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Database: UniProt
Entry: SCN1A_HUMAN
LinkDB: SCN1A_HUMAN
Original site: SCN1A_HUMAN 
ID   SCN1A_HUMAN             Reviewed;        2009 AA.
AC   P35498; E9PG49; Q16172; Q585T7; Q8IUJ6; Q96LA3; Q9C008;
DT   01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
DT   08-DEC-2000, sequence version 2.
DT   22-NOV-2017, entry version 195.
DE   RecName: Full=Sodium channel protein type 1 subunit alpha;
DE   AltName: Full=Sodium channel protein brain I subunit alpha;
DE   AltName: Full=Sodium channel protein type I subunit alpha;
DE   AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.1;
GN   Name=SCN1A; Synonyms=NAC1, SCN1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS GEFS+2 MET-875
RP   AND HIS-1648.
RX   PubMed=10742094; DOI=10.1038/74159;
RA   Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G.,
RA   An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D.,
RA   Buresi C., Malafosse A.;
RT   "Mutations of SCN1A, encoding a neuronal sodium channel, in two
RT   families with GEFS+2.";
RL   Nat. Genet. 24:343-345(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA   Jeong S.-Y., Goto J., Kanazawa I.;
RT   "Cloning of cDNA for human voltage-gated sodium channel alpha subunit,
RT   SCN1A.";
RL   Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC   TISSUE=Brain;
RA   Sugawara T., Mazaki E.M., Yamakawa K.;
RT   "Homo sapiens neuronal voltage-gated sodium channel type I (Nav1.1)
RT   mRNA.";
RL   Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), VARIANT THR-1067,
RP   AND ALTERNATIVE SPLICING.
RC   TISSUE=Brain;
RA   Ouchida M., Ohmori I.;
RT   "Isoforms of human sodium channel SCN1A gene.";
RL   Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15815621; DOI=10.1038/nature03466;
RA   Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
RA   Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA   Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA   Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA   Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA   Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA   Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA   Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA   Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA   Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA   McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA   Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
RA   Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA   Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA   Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA   Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA   Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA   Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA   Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA   Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA   McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA   Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA   Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
RA   Waterston R.H., Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2
RT   and 4.";
RL   Nature 434:724-731(2005).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1335-1428.
RX   PubMed=8062593;
RA   Malo M.S., Blanchard B.J., Andresen J.M., Srivastava K., Chen X.N.,
RA   Li X., Jabs E.W., Korenberg J.R., Ingram V.M.;
RT   "Localization of a putative human brain sodium channel gene (SCN1A) to
RT   chromosome band 2q24.";
RL   Cytogenet. Cell Genet. 67:178-186(1994).
RN   [7]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 1518-1940.
RC   TISSUE=Brain;
RX   PubMed=1317301; DOI=10.1016/0014-5793(92)80476-W;
RA   Lu C.-M., Han J., Rado T.A., Brown G.B.;
RT   "Differential expression of two sodium channel subtypes in human
RT   brain.";
RL   FEBS Lett. 303:53-58(1992).
RN   [8]
RP   INTERACTION WITH FGF13.
RX   PubMed=21566136; DOI=10.1074/jbc.M111.245803;
RA   Wang C., Wang C., Hoch E.G., Pitt G.S.;
RT   "Identification of novel interaction sites that determine specificity
RT   between fibroblast growth factor homologous factors and voltage-gated
RT   sodium channels.";
RL   J. Biol. Chem. 286:24253-24263(2011).
RN   [9]
RP   SUBUNIT, AND INTERACTION WITH THE CONOTOXIN GVIIJ.
RX   PubMed=24497506; DOI=10.1073/pnas.1324189111;
RA   Gajewiak J., Azam L., Imperial J., Walewska A., Green B.R.,
RA   Bandyopadhyay P.K., Raghuraman S., Ueberheide B., Bern M., Zhou H.M.,
RA   Minassian N.A., Hagan R.H., Flinspach M., Liu Y., Bulaj G.,
RA   Wickenden A.D., Olivera B.M., Yoshikami D., Zhang M.M.;
RT   "A disulfide tether stabilizes the block of sodium channels by the
RT   conotoxin muO[section sign]-GVIIJ.";
RL   Proc. Natl. Acad. Sci. U.S.A. 111:2758-2763(2014).
RN   [10]
RP   SUBUNIT, INTERACTION WITH THE SPIDER BETA/DELTA-THERAPHOTOXIN-PRE1A,
RP   AND SITE SER-1574.
RX   PubMed=28428547; DOI=10.1038/s41598-017-01129-0;
RA   Wingerd J.S., Mozar C.A., Ussing C.A., Murali S.S., Chin Y.K.,
RA   Cristofori-Armstrong B., Durek T., Gilchrist J., Vaughan C.W.,
RA   Bosmans F., Adams D.J., Lewis R.J., Alewood P.F., Mobli M.,
RA   Christie M.J., Rash L.D.;
RT   "The tarantula toxin beta/delta-TRTX-Pre1a highlights the importance
RT   of the S1-S2 voltage-sensor region for sodium channel subtype
RT   selectivity.";
RL   Sci. Rep. 7:974-988(2017).
RN   [11]
RP   VARIANTS GEFS+2 VAL-188; LEU-1353 AND MET-1656, AND VARIANTS THR-1067
RP   AND GLY-1928.
RX   PubMed=11254444; DOI=10.1086/319516;
RA   Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L.,
RA   Desai R.R., Lerman-Sagie T., Lev D., Mazarib A., Brand N.,
RA   Ben-Zeev B., Goikhman I., Singh R., Kremmidiotis G., Gardner A.,
RA   Sutherland G.R., George A.L. Jr., Mulley J.C., Berkovic S.F.;
RT   "Neuronal sodium-channel alpha1-subunit mutations in generalized
RT   epilepsy with febrile seizures plus.";
RL   Am. J. Hum. Genet. 68:859-865(2001).
RN   [12]
RP   VARIANT GEFS+2 ARG-1204.
RX   PubMed=11254445; DOI=10.1086/319524;
RA   Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., Meisler M.H.;
RT   "A novel SCN1A mutation associated with generalized epilepsy with
RT   febrile seizures plus -- and prevalence of variants in patients with
RT   epilepsy.";
RL   Am. J. Hum. Genet. 68:866-873(2001).
RN   [13]
RP   VARIANT EIEE6 PHE-986.
RX   PubMed=11359211; DOI=10.1086/320609;
RA   Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C.,
RA   De Jonghe P.;
RT   "De novo mutations in the sodium-channel gene SCN1A cause severe
RT   myoclonic epilepsy of infancy.";
RL   Am. J. Hum. Genet. 68:1327-1332(2001).
RN   [14]
RP   VARIANTS GEFS+2 ALA-1428 AND VAL-1685.
RX   PubMed=11524484; DOI=10.1212/WNL.57.4.703;
RA   Sugawara T., Mazaki-Miyazaki E., Ito M., Nagafuji H., Fukuma G.,
RA   Mitsudome A., Wada K., Kaneko S., Hirose S., Yamakawa K.;
RT   "Na(v)1.1 mutations cause febrile seizures associated with afebrile
RT   partial seizures.";
RL   Neurology 57:703-705(2001).
RN   [15]
RP   VARIANT GEFS+2 THR-1270.
RX   PubMed=11756608; DOI=10.1212/WNL.57.12.2265;
RA   Abou-Khalil B., Ge Q., Desai R., Ryther R., Bazyk A., Bailey R.,
RA   Haines J.L., Sutcliffe J.S., George A.L. Jr.;
RT   "Partial and generalized epilepsy with febrile seizures plus and a
RT   novel SCN1A mutation.";
RL   Neurology 57:2265-2272(2001).
RN   [16]
RP   VARIANTS EIEE6 CYS-902; CYS-931; PRO-1265; PHE-1289 DEL; MET-1390;
RP   ARG-1434; ARG-1450; CYS-1648 AND ARG-1674 AND ILE-1909, AND VARIANT
RP   THR-1067.
RX   PubMed=12083760; DOI=10.1016/S0006-291X(02)00617-4;
RA   Ohmori I., Ouchida M., Ohtsuka Y., Oka E., Shimizu K.;
RT   "Significant correlation of the SCN1A mutations and severe myoclonic
RT   epilepsy in infancy.";
RL   Biochem. Biophys. Res. Commun. 295:17-23(2002).
RN   [17]
RP   VARIANTS EIEE6 GLY-103; ILE-112; TRP-265; ASP-343; VAL-960; ILE-985;
RP   ARG-1231; LEU-1263; ASP-1685; 1807-MET--GLU-1810 DEL; GLY-1812 AND
RP   SER-1831, VARIANTS ICEGTC SER-808; ARG-979; ALA-983; ILE-1011;
RP   PHE-1611; SER-1632; ILE-1709 AND LEU-1808, AND VARIANT THR-1067.
RX   PubMed=12566275; DOI=10.1093/brain/awg053;
RA   Fujiwara T., Sugawara T., Mazaki-Miyazaki E., Takahashi Y.,
RA   Fukushima K., Watanabe M., Hara K., Morikawa T., Yagi K., Yamakawa K.,
RA   Inoue Y.;
RT   "Mutations of sodium channel alpha subunit type 1 (SCN1A) in
RT   intractable childhood epilepsies with frequent generalized tonic-
RT   clonic seizures.";
RL   Brain 126:531-546(2003).
RN   [18]
RP   VARIANTS GEFS+2 CYS-790 AND THR-1852.
RX   PubMed=12919402; DOI=10.1046/j.1528-1157.2003.22503.x;
RA   Annesi G., Gambardella A., Carrideo S., Incorpora G., Labate A.,
RA   Pasqua A.A., Civitelli D., Polizzi A., Annesi F., Spadafora P.,
RA   Tarantino P., Ciro Candiano I.C., Romeo N., De Marco E.V., Ventura P.,
RA   LePiane E., Zappia M., Aguglia U., Pavone L., Quattrone A.;
RT   "Two novel SCN1A missense mutations in generalized epilepsy with
RT   febrile seizures plus.";
RL   Epilepsia 44:1257-1258(2003).
RN   [19]
RP   VARIANT GEFS+2 VAL-188, AND CHARACTERIZATION OF VARIANT GEFS+2
RP   VAL-188.
RX   PubMed=12576172; DOI=10.1016/S0920-1211(02)00259-0;
RA   Cossette P., Loukas A., Lafreniere R.G., Rochefort D.,
RA   Harvey-Girard E., Ragsdale D.S., Dunn R.J., Rouleau G.A.;
RT   "Functional characterization of the D188V mutation in neuronal
RT   voltage-gated sodium channel causing generalized epilepsy with febrile
RT   seizures plus (GEFS).";
RL   Epilepsy Res. 53:107-117(2003).
RN   [20]
RP   VARIANTS EIEE6 HIS-393; GLN-939; ARG-959; ARG-1434; SER-1661 AND
RP   GLU-1749.
RX   PubMed=12754708; DOI=10.1002/humu.10217;
RA   Claes L., Ceulemans B., Audenaert D., Smets K., Loefgren A.,
RA   Del-Favero J., Ala-Mello S., Basel-Vanagaite L., Plecko B., Raskin S.,
RA   Thiry P., Wolf N.I., Van Broeckhoven C., De Jonghe P.;
RT   "De novo SCN1A mutations are a major cause of severe myoclonic
RT   epilepsy of infancy.";
RL   Hum. Mutat. 21:615-621(2003).
RN   [21]
RP   VARIANT GEFS+2 CYS-1657, CHARACTERIZATION OF VARIANTS GEFS+2 LEU-1353;
RP   MET-1656; CYS-1657 AND VAL-1685, AND CHARACTERIZATION OF VARIANT EIEE6
RP   PHE-986.
RX   PubMed=14672992;
RA   Lossin C., Rhodes T.H., Desai R.R., Vanoye C.G., Wang D., Carniciu S.,
RA   Devinsky O., George A.L. Jr.;
RT   "Epilepsy-associated dysfunction in the voltage-gated neuronal sodium
RT   channel SCN1A.";
RL   J. Neurosci. 23:11289-11295(2003).
RN   [22]
RP   VARIANTS GLN-542; THR-1034; LEU-1038; THR-1067 AND THR-1955.
RX   PubMed=12610651; DOI=10.1038/sj.mp.4001241;
RA   Weiss L.A., Escayg A., Kearney J.A., Trudeau M., MacDonald B.T.,
RA   Mori M., Reichert J., Buxbaum J.D., Meisler M.H.;
RT   "Sodium channels SCN1A, SCN2A and SCN3A in familial autism.";
RL   Mol. Psychiatry 8:186-194(2003).
RN   [23]
RP   VARIANTS EIEE6 ASP-78; GLU-177; SER-227; ARG-280; ILE-297; ASN-426;
RP   ARG-1233; ILE-1461; SER-1463; ALA-1668; THR-1780 AND
RP   1812-TRP--LYS-1815 DELINS CYS.
RX   PubMed=12821740; DOI=10.1212/01.WNL.0000069463.41870.2F;
RA   Nabbout R., Gennaro E., Dalla Bernardina B., Dulac O., Madia F.,
RA   Bertini E., Capovilla G., Chiron C., Cristofori G., Elia M.,
RA   Fontana E., Gaggero R., Granata T., Guerrini R., Loi M., La Selva L.,
RA   Lispi M.L., Matricardi A., Romeo A., Tzolas V., Valseriati D.,
RA   Veggiotti P., Vigevano F., Vallee L., Dagna Bricarelli F., Bianchi A.,
RA   Zara F.;
RT   "Spectrum of SCN1A mutations in severe myoclonic epilepsy of
RT   infancy.";
RL   Neurology 60:1961-1967(2003).
RN   [24]
RP   VARIANTS EIEE6 PRO-1326 AND ASP-1881, AND VARIANT INFANTILE SPASMS
RP   GLY-1957.
RX   PubMed=14504318; DOI=10.1212/01.WNL.0000086379.71183.78;
RA   Wallace R.H., Hodgson B.L., Grinton B.E., Gardiner R.M., Robinson R.,
RA   Rodriguez-Casero V., Sadleir L., Morgan J., Harkin L.A., Dibbens L.M.,
RA   Yamamoto T., Andermann E., Mulley J.C., Berkovic S.F., Scheffer I.E.;
RT   "Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy
RT   of infancy and infantile spasms.";
RL   Neurology 61:765-769(2003).
RN   [25]
RP   CHARACTERIZATION OF VARIANT GEFS+2 ARG-1204.
RX   PubMed=12535936; DOI=10.1016/S0306-4522(02)00698-X;
RA   Spampanato J., Escayg A., Meisler M.H., Goldin A.L.;
RT   "Generalized epilepsy with febrile seizures plus type 2 mutation
RT   W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels.";
RL   Neuroscience 116:37-48(2003).
RN   [26]
RP   VARIANTS EIEE6 GLN-101; ARG-190; ILE-934; ALA-944; CYS-946; HIS-946;
RP   PRO-1355; MET-1559 DEL; SER-1692; CYS-1694; PHE-1766 DEL AND CYS-1781.
RX   PubMed=14738421; DOI=10.1111/j.0013-9580.2004.15103.x;
RA   Fukuma G., Oguni H., Shirasaka Y., Watanabe K., Miyajima T.,
RA   Yasumoto S., Ohfu M., Inoue T., Watanachai A., Kira R., Matsuo M.,
RA   Muranaka H., Sofue F., Zhang B., Kaneko S., Mitsudome A., Hirose S.;
RT   "Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene
RT   SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in
RT   borderline SMEI (SMEB).";
RL   Epilepsia 45:140-148(2004).
RN   [27]
RP   VARIANT GEFS+2 TYR-1866, CHARACTERIZATION OF VARIANT GEFS+2 TYR-1866,
RP   AND INTERACTION WITH SCN1B.
RX   PubMed=15525788; DOI=10.1523/JNEUROSCI.2034-04.2004;
RA   Spampanato J., Kearney J.A., de Haan G., McEwen D.P., Escayg A.,
RA   Aradi I., MacDonald B.T., Levin S.I., Soltesz I., Benna P.,
RA   Montalenti E., Isom L.L., Goldin A.L., Meisler M.H.;
RT   "A novel epilepsy mutation in the sodium channel SCN1A identifies a
RT   cytoplasmic domain for beta subunit interaction.";
RL   J. Neurosci. 24:10022-10034(2004).
RN   [28]
RP   VARIANT EIEE6 ASN-252.
RX   PubMed=15087100; DOI=10.1016/j.pediatrneurol.2003.10.012;
RA   Ceulemans B.P.G.M., Claes L.R.F., Lagae L.G.;
RT   "Clinical correlations of mutations in the SCN1A gene: from febrile
RT   seizures to severe myoclonic epilepsy in infancy.";
RL   Pediatr. Neurol. 30:236-243(2004).
RN   [29]
RP   VARIANT EIEE6 ASN-1713, AND VARIANT THR-1067.
RX   PubMed=16122630; DOI=10.1016/j.braindev.2004.11.005;
RA   Kimura K., Sugawara T., Mazaki-Miyazaki E., Hoshino K., Nomura Y.,
RA   Tateno A., Hachimori K., Yamakawa K., Segawa M.;
RT   "A missense mutation in SCN1A in brothers with severe myoclonic
RT   epilepsy in infancy (SMEI) inherited from a father with febrile
RT   seizures.";
RL   Brain Dev. 27:424-430(2005).
RN   [30]
RP   VARIANT GEFS+2 LEU-1857.
RX   PubMed=15715999; DOI=10.1016/j.eplepsyres.2004.11.005;
RA   Nagao Y., Mazaki-Miyazaki E., Okamura N., Takagi M., Igarashi T.,
RA   Yamakawa K.;
RT   "A family of generalized epilepsy with febrile seizures plus type 2-a
RT   new missense mutation of SCN1A found in the pedigree of several
RT   patients with complex febrile seizures.";
RL   Epilepsy Res. 63:151-156(2005).
RN   [31]
RP   VARIANTS ICEGTC SER-808 AND ILE-1011, AND CHARACTERIZATION OF VARIANTS
RP   ICEGTC SER-808; ARG-979; ALA-983; ILE-1011; PHE-1611; SER-1632;
RP   ILE-1709 AND LEU-1808.
RX   PubMed=16210358; DOI=10.1113/jphysiol.2005.094326;
RA   Rhodes T.H., Vanoye C.G., Ohmori I., Ogiwara I., Yamakawa K.,
RA   George A.L. Jr.;
RT   "Sodium channel dysfunction in intractable childhood epilepsy with
RT   generalized tonic-clonic seizures.";
RL   J. Physiol. (Lond.) 569:433-445(2005).
RN   [32]
RP   VARIANT FHM3 LYS-1489.
RX   PubMed=16054936; DOI=10.1016/S0140-6736(05)66786-4;
RA   Dichgans M., Freilinger T., Eckstein G., Babini E.,
RA   Lorenz-Depiereux B., Biskup S., Ferrari M.D., Herzog J.,
RA   van den Maagdenberg A.M.J.M., Pusch M., Strom T.M.;
RT   "Mutation in the neuronal voltage-gated sodium channel SCN1A in
RT   familial hemiplegic migraine.";
RL   Lancet 366:371-377(2005).
RN   [33]
RP   VARIANT EIEE6 SER-946.
RX   PubMed=15944908; DOI=10.1055/s-2005-865607;
RA   Ebach K., Joos H., Doose H., Stephani U., Kurlemann G., Fiedler B.,
RA   Hahn A., Hauser E., Hundt K., Holthausen H., Mueller U.,
RA   Neubauer B.A.;
RT   "SCN1A mutation analysis in myoclonic astatic epilepsy and severe
RT   idiopathic generalized epilepsy of infancy with generalized tonic-
RT   clonic seizures.";
RL   Neuropediatrics 36:210-213(2005).
RN   [34]
RP   VARIANT FEB3A THR-145, AND CHARACTERIZATION OF VARIANT FEB3A THR-145.
RX   PubMed=16326807; DOI=10.1073/pnas.0506818102;
RA   Mantegazza M., Gambardella A., Rusconi R., Schiavon E., Annesi F.,
RA   Cassulini R.R., Labate A., Carrideo S., Chifari R., Canevini M.P.,
RA   Canger R., Franceschetti S., Annesi G., Wanke E., Quattrone A.;
RT   "Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function
RT   mutation associated with familial simple febrile seizures.";
RL   Proc. Natl. Acad. Sci. U.S.A. 102:18177-18182(2005).
RN   [35]
RP   VARIANT GEFS+2 GLY-1742.
RX   PubMed=15694566; DOI=10.1016/j.seizure.2004.12.007;
RA   Pineda-Trujillo N., Carrizosa J., Cornejo W., Arias W., Franco C.,
RA   Cabrera D., Bedoya G., Ruiz-Linares A.;
RT   "A novel SCN1A mutation associated with severe GEFS+ in a large South
RT   American pedigree.";
RL   Seizure 14:123-128(2005).
RN   [36]
RP   VARIANT EIEE6 PRO-1393.
RX   PubMed=17129991; DOI=10.1080/08035250600778628;
RA   Stefanaki E., Aggelakou V., Orfanou M., Kokori E., Boutoufianakis S.;
RT   "Epilepsy with a de novo missense mutation in the sodium channel a1
RT   subunit: a case report.";
RL   Acta Paediatr. 95:1703-1706(2006).
RN   [37]
RP   VARIANTS EIEE6 ASP-78; PRO-162; ASN-194; LYS-217; SER-227; ARG-280;
RP   LEU-383; CYS-393; SER-393; ASN-426; ARG-812; LYS-846; PRO-942;
RP   ARG-1233; GLN-1245; CYS-1422; ARG-1426; LEU-1451; SER-1463; SER-1475;
RP   ALA-1668; ARG-1714; GLU-1762; PHE-1773 AND THR-1780.
RX   PubMed=17054684; DOI=10.1111/j.1528-1167.2006.00641.x;
RA   Mancardi M.M., Striano P., Gennaro E., Madia F., Paravidino R.,
RA   Scapolan S., Dalla Bernardina B., Bertini E., Bianchi A.,
RA   Capovilla G., Darra F., Elia M., Freri E., Gobbi G., Granata T.,
RA   Guerrini R., Pantaleoni C., Parmeggiani A., Romeo A., Santucci M.,
RA   Vecchi M., Veggiotti P., Vigevano F., Pistorio A., Gaggero R.,
RA   Zara F.;
RT   "Familial occurrence of febrile seizures and epilepsy in severe
RT   myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.";
RL   Epilepsia 47:1629-1635(2006).
RN   [38]
RP   CHARACTERIZATION OF VARIANTS EIEE6 GLU-177; SER-227; HIS-393; ASN-426;
RP   GLN-939; ARG-959; PHE-1289 DEL AND ILE-1909.
RX   PubMed=17054685; DOI=10.1111/j.1528-1167.2006.00643.x;
RA   Ohmori I., Kahlig K.M., Rhodes T.H., Wang D.W., George A.L. Jr.;
RT   "Nonfunctional SCN1A is common in severe myoclonic epilepsy of
RT   infancy.";
RL   Epilepsia 47:1636-1642(2006).
RN   [39]
RP   VARIANT GEFS+2 CYS-859, AND CHARACTERIZATION OF VARIANT GEFS+2
RP   CYS-859.
RX   PubMed=16525050; DOI=10.1523/JNEUROSCI.2977-05.2006;
RA   Barela A.J., Waddy S.P., Lickfett J.G., Hunter J., Anido A.,
RA   Helmers S.L., Goldin A.L., Escayg A.;
RT   "An epilepsy mutation in the sodium channel SCN1A that decreases
RT   channel excitability.";
RL   J. Neurosci. 26:2714-2723(2006).
RN   [40]
RP   VARIANTS EIEE6 LEU-403; ASN-413; HIS-946; ASP-1238; GLY-1396 AND
RP   GLN-1645.
RX   PubMed=16713920; DOI=10.1016/S1474-4422(06)70446-X;
RA   Berkovic S.F., Harkin L., McMahon J.M., Pelekanos J.T., Zuberi S.M.,
RA   Wirrell E.C., Gill D.S., Iona X., Mulley J.C., Scheffer I.E.;
RT   "De-novo mutations of the sodium channel gene SCN1A in alleged vaccine
RT   encephalopathy: a retrospective study.";
RL   Lancet Neurol. 5:488-492(2006).
RN   [41]
RP   VARIANT EIEE6 THR-1231.
RX   PubMed=16458823; DOI=10.1016/j.pediatrneurol.2005.07.009;
RA   Kearney J.A., Wiste A.K., Stephani U., Trudeau M.M., Siegel A.,
RA   Ramachandrannair R., Elterman R.D., Muhle H., Reinsdorf J.,
RA   Shields W.D., Meisler M.H., Escayg A.;
RT   "Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of
RT   infancy.";
RL   Pediatr. Neurol. 34:116-120(2006).
RN   [42]
RP   VARIANTS CYS-393; PRO-395; GLU-422; GLY-626; VAL-1480; SER-1543;
RP   GLN-1636 AND HIS-1657, VARIANTS EIEE6 HIS-79; CYS-84; TRP-101;
RP   ARG-199; MET-226; THR-239; LEU-403; ASN-413; GLY-674; PRO-783;
RP   GLU-944; LEU-945; GLU-950; ASP-1238; MET-1390; GLY-1396; PRO-1441;
RP   VAL-1545; CYS-1596; GLN-1645; VAL-1707; ARG-1721 AND THR-1922, AND
RP   VARIANT GEFS+2 VAL-973.
RX   PubMed=17347258; DOI=10.1093/brain/awm002;
RG   The infantile epileptic encephalopathy referral consortium;
RA   Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T.,
RA   Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K.,
RA   Connolly M., Stanley T., Harbord M., Andermann F., Wang J.,
RA   Batish S.D., Jones J.G., Seltzer W.K., Gardner A., Sutherland G.,
RA   Berkovic S.F., Mulley J.C., Scheffer I.E.;
RT   "The spectrum of SCN1A-related infantile epileptic encephalopathies.";
RL   Brain 130:843-852(2007).
RN   [43]
RP   VARIANTS EIEE6 GLN-101; ILE-322; GLY-356; THR-358; CYS-393; HIS-393;
RP   LEU-957; TYR-1414; TRP-1470; ARG-1588; TYR-1608; MET-1630; ARG-1658;
RP   ARG-1716; VAL-1783 AND LYS-1787, AND VARIANTS GEFS+2 PRO-74; ARG-1204
RP   AND SER-1687.
RX   PubMed=17561957; DOI=10.1111/j.1528-1167.2007.01122.x;
RA   Marini C., Mei D., Temudo T., Ferrari A.R., Buti D., Dravet C.,
RA   Dias A.I., Moreira A., Calado E., Seri S., Neville B., Narbona J.,
RA   Reid E., Michelucci R., Sicca F., Cross H.J., Guerrini R.;
RT   "Idiopathic epilepsies with seizures precipitated by fever and SCN1A
RT   abnormalities.";
RL   Epilepsia 48:1678-1685(2007).
RN   [44]
RP   VARIANT GEFS+2 ILE-1366, AND VARIANT ICEGTC ILE-1366.
RX   PubMed=17507202; DOI=10.1016/j.eplepsyres.2007.03.018;
RA   Osaka H., Ogiwara I., Mazaki E., Okamura N., Yamashita S., Iai M.,
RA   Yamada M., Kurosawa K., Iwamoto H., Yasui-Furukori N., Kaneko S.,
RA   Fujiwara T., Inoue Y., Yamakawa K.;
RT   "Patients with a sodium channel alpha 1 gene mutation show wide
RT   phenotypic variation.";
RL   Epilepsy Res. 75:46-51(2007).
RN   [45]
RP   VARIANT FHM3 GLN-1649.
RX   PubMed=17397047; DOI=10.1002/humu.9486;
RA   Vanmolkot K.R., Babini E., de Vries B., Stam A.H., Freilinger T.,
RA   Terwindt G.M., Norris L., Haan J., Frants R.R., Ramadan N.M.,
RA   Ferrari M.D., Pusch M., van den Maagdenberg A.M., Dichgans M.;
RT   "The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated
RT   with familial hemiplegic migraine: genetic and functional studies.
RT   Mutation in brief #957. Online.";
RL   Hum. Mutat. 28:522-522(2007).
RN   [46]
RP   CHARACTERIZATION OF VARIANT GEFS+2 THR-1852, SUBCELLULAR LOCATION, AND
RP   INTERACTION WITH SCN1B.
RX   PubMed=17928445; DOI=10.1523/JNEUROSCI.3515-07.2007;
RA   Rusconi R., Scalmani P., Cassulini R.R., Giunti G., Gambardella A.,
RA   Franceschetti S., Annesi G., Wanke E., Mantegazza M.;
RT   "Modulatory proteins can rescue a trafficking defective epileptogenic
RT   Nav1.1 Na+ channel mutant.";
RL   J. Neurosci. 27:11037-11046(2007).
RN   [47]
RP   VARIANT PHE-790, AND POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS SYNDROME.
RX   PubMed=17679682; DOI=10.1212/01.wnl.0000266666.10404.53;
RA   Grosso S., Orrico A., Galli L., Di Bartolo R., Sorrentino V.,
RA   Balestri P.;
RT   "SCN1A mutation associated with atypical Panayiotopoulos syndrome.";
RL   Neurology 69:609-611(2007).
RN   [48]
RP   VARIANT FOCAL EPILEPSY PHE-1771.
RX   PubMed=18330841; DOI=10.1055/s-2008-1062703;
RA   Okumura A., Kurahashi H., Hirose S., Okawa N., Watanabe K.;
RT   "Focal epilepsy resulting from a de novo SCN1A mutation.";
RL   Neuropediatrics 38:253-256(2007).
RN   [49]
RP   VARIANT FHM3 SER-1174.
RX   PubMed=18021921; DOI=10.1016/j.pediatrneurol.2007.06.016;
RA   Gargus J.J., Tournay A.;
RT   "Novel mutation confirms seizure locus SCN1A is also familial
RT   hemiplegic migraine locus FHM3.";
RL   Pediatr. Neurol. 37:407-410(2007).
RN   [50]
RP   VARIANT GEFS+2 MET-978.
RX   PubMed=17927801; DOI=10.1111/j.1600-0404.2007.00941.x;
RA   Selmer K.K., Egeland T., Solaas M.H., Nakken K.O., Kjeldsen M.J.,
RA   Friis M.L., Brandal K., Corey L.A., Undlien D.E.;
RT   "Genetic screening of Scandinavian families with febrile seizures and
RT   epilepsy or GEFS+.";
RL   Acta Neurol. Scand. 117:289-292(2008).
RN   [51]
RP   VARIANTS EIEE6 SER-118; GLU-366; PRO-1207; MET-1335; SER-1358 AND
RP   CYS-1462, VARIANT GEFS+2 GLN-377, AND VARIANT GLY-1928.
RX   PubMed=18413471; DOI=10.1001/archneur.65.4.489;
RA   Zucca C., Redaelli F., Epifanio R., Zanotta N., Romeo A., Lodi M.,
RA   Veggiotti P., Airoldi G., Panzeri C., Romaniello R., De Polo G.,
RA   Bonanni P., Cardinali S., Baschirotto C., Martorell L., Borgatti R.,
RA   Bresolin N., Bassi M.T.;
RT   "Cryptogenic epileptic syndromes related to SCN1A: twelve novel
RT   mutations identified.";
RL   Arch. Neurol. 65:489-494(2008).
RN   [52]
RP   VARIANT GEFS+2 THR-1867.
RX   PubMed=18251839; DOI=10.1111/j.1528-1167.2007.01439_2.x;
RA   Hindocha N., Nashef L., Elmslie F., Birch R., Zuberi S.,
RA   Al-Chalabi A., Crotti L., Schwartz P.J., Makoff A.;
RT   "Two cases of sudden unexpected death in epilepsy in a GEFS+ family
RT   with an SCN1A mutation.";
RL   Epilepsia 49:360-365(2008).
RN   [53]
RP   VARIANT CYS-1575.
RX   PubMed=18031552; DOI=10.1111/j.1528-1167.2007.01411.x;
RA   Ohmori I., Ouchida M., Kobayashi K., Jitsumori Y., Inoue T.,
RA   Shimizu K., Matsui H., Ohtsuka Y., Maegaki Y.;
RT   "Rasmussen encephalitis associated with SCN 1 A mutation.";
RL   Epilepsia 49:521-526(2008).
RN   [54]
RP   VARIANT GEFS+2 HIS-935.
RX   PubMed=18566737; DOI=10.1007/s10038-008-0306-y;
RA   Sun H., Zhang Y., Liang J., Liu X., Ma X., Wu H., Xu K., Qin J.,
RA   Qi Y., Wu X.;
RT   "SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families
RT   with generalized epilepsy with febrile seizures plus.";
RL   J. Hum. Genet. 53:769-774(2008).
RN   [55]
RP   VARIANT EIEE6 CYS-280.
RX   PubMed=18639757; DOI=10.1016/j.pediatrneurol.2008.04.003;
RA   Miyama S., Goto T., Inoue Y., Yamakawa K.;
RT   "Monozygotic twins with severe myoclonic epilepsy in infancy
RT   discordant for clinical features.";
RL   Pediatr. Neurol. 39:120-122(2008).
RN   [56]
RP   VARIANT THR-1067.
RX   PubMed=19694741; DOI=10.1111/j.1365-2125.2009.03437.x;
RA   Lakhan R., Kumari R., Misra U.K., Kalita J., Pradhan S., Mittal B.;
RT   "Differential role of sodium channels SCN1A and SCN2A gene
RT   polymorphisms with epilepsy and multiple drug resistance in the north
RT   Indian population.";
RL   Br. J. Clin. Pharmacol. 68:214-220(2009).
RN   [57]
RP   VARIANT EIEE6 LYS-1503.
RX   PubMed=19783390; DOI=10.1016/j.braindev.2009.08.009;
RA   Shi X., Yasumoto S., Nakagawa E., Fukasawa T., Uchiya S., Hirose S.;
RT   "Missense mutation of the sodium channel gene SCN2A causes Dravet
RT   syndrome.";
RL   Brain Dev. 31:758-762(2009).
RN   [58]
RP   VARIANTS GLN-542 AND PHE-790, VARIANT FEB3A ASP-1308, VARIANT EIEE6
RP   CYS-1648, VARIANTS GEFS+2 THR-899; ILE-976; ASN-1249 AND MET-1250, AND
RP   POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS SYNDROME.
RX   PubMed=19522081; DOI=10.1111/j.1399-0004.2009.01155.x;
RA   Orrico A., Galli L., Grosso S., Buoni S., Pianigiani R., Balestri P.,
RA   Sorrentino V.;
RT   "Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150
RT   Italian patients with idiopathic childhood epilepsies.";
RL   Clin. Genet. 75:579-581(2009).
RN   [59]
RP   VARIANT GEFS+2 LEU-218, AND POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS
RP   SYNDROME.
RX   PubMed=19339291; DOI=10.1177/0883073808324537;
RA   Livingston J.H., Cross J.H., Mclellan A., Birch R., Zuberi S.M.;
RT   "A novel inherited mutation in the voltage sensor region of SCN1A is
RT   associated with Panayiotopoulos syndrome in siblings and generalized
RT   epilepsy with febrile seizures plus.";
RL   J. Child Neurol. 24:503-508(2009).
RN   [60]
RP   VARIANTS GLN-542; HIS-604; THR-924; ILE-1079; THR-1109; ASP-1308;
RP   CYS-1575 AND GLY-1928, AND VARIANTS EIEE6 VAL-58; PHE-61; HIS-79;
RP   GLN-101; TRP-101; ASN-124; ARG-171; VAL-175; LYS-191; TYR-191;
RP   GLY-194; GLU-223; SER-227; SER-232; TYR-243; ARG-277; LEU-281;
RP   SER-281; ILE-322; PHE-340; ASP-343; ARG-345; ASP-355; ILE-357;
RP   GLN-378; CYS-393; MET-400 DEL; CYS-426; PHE-525; GLY-626; ARG-843;
RP   CYS-859; LYS-875; LEU-896; PHE-927; CYS-931; ILE-934; PRO-939;
RP   ASN-943; SER-949; TYR-949; LYS-973; PRO-986; GLY-998; LYS-1068;
RP   GLY-1239; TYR-1239; ASP-1255; VAL-1275; SER-1284; PHE-1289 DEL;
RP   SER-1316; PRO-1328; LYS-1367; SER-1391; GLY-1416; ILE-1431; MET-1437;
RP   PHE-1473 DEL; ILE-1483 DEL; GLY-1484; ILE-1538; ALA-1544; LYS-1561;
RP   GLU-1579; GLU-1586; CYS-1596; LEU-1596; ILE-1612; GLY-1639; HIS-1648;
RP   ARG-1658; MET-1658; LYS-1664; ARG-1675; PHE-1677; LYS-1714; CYS-1725;
RP   ASN-1771; THR-1780; HIS-1781; MET-1782; SER-1782; THR-1783; VAL-1783;
RP   LYS-1788; ILE-1808; SER-1812; 1813-GLU--PHE-1815 DEL AND PHE-1835.
RX   PubMed=18930999; DOI=10.1136/jmg.2008.062323;
RA   Depienne C., Trouillard O., Saint-Martin C., Gourfinkel-An I.,
RA   Bouteiller D., Carpentier W., Keren B., Abert B., Gautier A.,
RA   Baulac S., Arzimanoglou A., Cazeneuve C., Nabbout R., LeGuern E.;
RT   "Spectrum of SCN1A gene mutations associated with Dravet syndrome:
RT   analysis of 333 patients.";
RL   J. Med. Genet. 46:183-191(2009).
RN   [61]
RP   VARIANTS FHM3 HIS-1489 AND LEU-1499.
RX   PubMed=19332696; DOI=10.1212/01.wnl.0000345393.53132.8c;
RA   Vahedi K., Depienne C., Le Fort D., Riant F., Chaine P.,
RA   Trouillard O., Gaudric A., Morris M.A., LeGuern E.,
RA   Tournier-Lasserve E., Bousser M.-G.;
RT   "Elicited repetitive daily blindness: a new phenotype associated with
RT   hemiplegic migraine and SCN1A mutations.";
RL   Neurology 72:1178-1183(2009).
RN   [62]
RP   VARIANT GEFS+2 HIS-388.
RX   PubMed=19464195; DOI=10.1016/j.seizure.2009.04.009;
RA   Mahoney K., Moore S.J., Buckley D., Alam M., Parfrey P., Penney S.,
RA   Merner N., Hodgkinson K., Young T.L.;
RT   "Variable neurologic phenotype in a GEFS+ family with a novel mutation
RT   in SCN1A.";
RL   Seizure 18:492-497(2009).
RN   [63]
RP   VARIANT THR-1067.
RX   PubMed=20682179; DOI=10.1016/j.arcmed.2010.04.007;
RA   Ebrahimi A., Houshmand M., Tonekaboni S.H.,
RA   Fallah Mahboob Passand M.S., Zainali S., Moghadasi M.;
RT   "Two novel mutations in SCN1A gene in Iranian patients with
RT   epilepsy.";
RL   Arch. Med. Res. 41:207-214(2010).
RN   [64]
RP   VARIANTS GEFS+2 HIS-946 AND LEU-1765, AND CHARACTERIZATION OF VARIANTS
RP   GEFS+2 HIS-946 AND LEU-1765.
RX   PubMed=20550552; DOI=10.1111/j.1528-1167.2010.02645.x;
RA   Liao W.P., Shi Y.W., Long Y.S., Zeng Y., Li T., Yu M.J., Su T.,
RA   Deng P., Lei Z.G., Xu S.J., Deng W.Y., Liu X.R., Sun W.W., Yi Y.H.,
RA   Xu Z.C., Duan S.;
RT   "Partial epilepsy with antecedent febrile seizures and seizure
RT   aggravation by antiepileptic drugs: associated with loss of function
RT   of Na(v) 1.1.";
RL   Epilepsia 51:1669-1678(2010).
RN   [65]
RP   VARIANTS EIEE6 ILE-1612 AND GLY-1756.
RX   PubMed=20452746; DOI=10.1016/j.eplepsyres.2010.04.003;
RA   Herini E.S., Gunadi Harahap I.S., Yusoff S., Morikawa S., Patria S.Y.,
RA   Nishimura N., Sunartini Sutaryo S., Takada S., Matsuo M., Nishio H.;
RT   "Generalized epilepsy with febrile seizures plus (GEFS+) spectrum:
RT   clinical manifestations and SCN1A mutations in Indonesian patients.";
RL   Epilepsy Res. 90:132-139(2010).
RN   [66]
RP   VARIANT GLU-1637.
RX   PubMed=20392657; DOI=10.1016/j.ejpn.2010.03.002;
RA   Nishri D., Blumkin L., Lev D., Leshinsky-Silver E., Abu-Rashid M.,
RA   Birch R., Zuberi S.M., Lerman-Sagie T.;
RT   "Hepatic coma culminating in severe brain damage in a child with a
RT   SCN1A mutation.";
RL   Eur. J. Paediatr. Neurol. 14:456-459(2010).
RN   [67]
RP   VARIANTS EIEE6 GLN-862 AND LYS-954.
RX   PubMed=20110217; DOI=10.1177/0883073809357241;
RA   Arlier Z., Bayri Y., Kolb L.E., Erturk O., Ozturk A.K., Bayrakli F.,
RA   Bilguvar K., Moliterno J.A., Dervent A., Demirbilek V., Yalcinkaya C.,
RA   Korkmaz B., Tuysuz B., Gunel M.;
RT   "Four novel SCN1A mutations in Turkish patients with severe myoclonic
RT   epilepsy of infancy (SMEI).";
RL   J. Child Neurol. 25:1265-1268(2010).
RN   [68]
RP   VARIANT GEFS+2 THR-27, VARIANTS EIEE6 LEU-63; VAL-239 AND ARG-1433,
RP   AND VARIANT ASP-1308.
RX   PubMed=20729507; DOI=10.1177/0883073810365737;
RA   Nicita F., Spalice A., Papetti L., Ursitti F., Parisi P., Gennaro E.,
RA   Zara F., Iannetti P.;
RT   "Genotype-phenotype correlations in a group of 15 SCN1A-mutated
RT   Italian patients with GEFS+ spectrum (seizures plus, classical and
RT   borderline severe myoclonic epilepsy of infancy).";
RL   J. Child Neurol. 25:1369-1376(2010).
RN   [69]
RP   VARIANTS EIEE6 SER-90; THR-91; TRP-101; GLN-101; THR-239; ARG-259;
RP   HIS-393; TYR-939; GLY-952; LYS-1210; PRO-1260; PRO-1287; MET-1335;
RP   MET-1390; GLU-1433; GLU-1586 AND THR-1783.
RX   PubMed=20431604; DOI=10.1038/jhg.2010.39;
RA   Sun H., Zhang Y., Liu X., Ma X., Yang Z., Qin J., Jiang Y., Qi Y.,
RA   Wu X.;
RT   "Analysis of SCN1A mutation and parental origin in patients with
RT   Dravet syndrome.";
RL   J. Hum. Genet. 55:421-427(2010).
RN   [70]
RP   VARIANTS EIEE6 CYS-84; GLN-101; LYS-171; THR-175; ASN-194; SER-227;
RP   PHE-406; ASN-413; PRO-783; GLU-944; LEU-945; HIS-946; GLU-950;
RP   GLY-1396; LYS-1450; VAL-1545; GLN-1645; ARG-1726 AND THR-1783, AND
RP   VARIANTS HIS-604; GLN-1636 AND HIS-1657.
RX   PubMed=19589774; DOI=10.1136/jmg.2008.065912;
RA   Heron S.E., Scheffer I.E., Iona X., Zuberi S.M., Birch R.,
RA   McMahon J.M., Bruce C.M., Berkovic S.F., Mulley J.C.;
RT   "De novo SCN1A mutations in Dravet syndrome and related epileptic
RT   encephalopathies are largely of paternal origin.";
RL   J. Med. Genet. 47:137-141(2010).
RN   [71]
RP   VARIANTS EIEE6 ASN-124; TYR-191; LYS-875; LYS-1367; SER-1514;
RP   HIS-1648; MET-1658; LYS-1664 AND MET-1782.
RX   PubMed=20522430; DOI=10.1136/jmg.2009.074328;
RA   Depienne C., Trouillard O., Gourfinkel-An I., Saint-Martin C.,
RA   Bouteiller D., Graber D., Barthez-Carpentier M.A., Gautier A.,
RA   Villeneuve N., Dravet C., Livet M.O., Rivier-Ringenbach C., Adam C.,
RA   Dupont S., Baulac S., Heron D., Nabbout R., Leguern E.;
RT   "Mechanisms for variable expressivity of inherited SCN1A mutations
RT   causing Dravet syndrome.";
RL   J. Med. Genet. 47:404-410(2010).
RN   [72]
RP   VARIANT GEFS+2 LYS-1795.
RX   PubMed=20600615; DOI=10.1016/j.neulet.2010.06.040;
RA   Li N., Zhang J., Guo J.F., Yan X.X., Xia K., Tang B.S.;
RT   "Novel mutation of SCN1A in familial generalized epilepsy with febrile
RT   seizures plus.";
RL   Neurosci. Lett. 480:211-214(2010).
RN   [73]
RP   VARIANTS EIEE6 ILE-1612 AND GLY-1756.
RX   PubMed=19563458; DOI=10.1111/j.1442-200X.2009.02916.x;
RA   Herini E.S., Gunadi H., van Kempen M.J., Yusoff S., Sutaryo S.,
RA   Patria S.Y., Matsuo M., Lindhout D., Nishio H.;
RT   "Novel SCN1A mutations in Indonesian patients with severe myoclonic
RT   epilepsy in infancy.";
RL   Pediatr. Int. 52:234-239(2010).
RN   [74]
RP   VARIANT GEFS+2 PHE-1309.
RX   PubMed=20117752; DOI=10.1016/j.pediatrneurol.2009.09.007;
RA   Dimova P.S., Yordanova I., Bojinova V., Jordanova A., Kremenski I.;
RT   "Generalized epilepsy with febrile seizures plus: novel SCN1A
RT   mutation.";
RL   Pediatr. Neurol. 42:137-140(2010).
RN   [75]
RP   VARIANT GEFS+2 HIS-859, VARIANT EIEE6 GLY-865, CHARACTERIZATION OF
RP   VARIANT GEFS+2 HIS-859, AND CHARACTERIZATION OF VARIANTS EIEE6
RP   GLY-865; CYS-946 AND HIS-946.
RX   PubMed=21864321; DOI=10.1111/j.1460-9568.2011.07826.x;
RA   Volkers L., Kahlig K.M., Verbeek N.E., Das J.H., van Kempen M.J.,
RA   Stroink H., Augustijn P., van Nieuwenhuizen O., Lindhout D.,
RA   George A.L. Jr., Koeleman B.P., Rook M.B.;
RT   "Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or
RT   Dravet syndrome.";
RL   Eur. J. Neurosci. 34:1268-1275(2011).
RN   [76]
RP   VARIANTS EIEE6 PHE-17 DEL; THR-68; ASN-79; CYS-84; PRO-98; GLN-101;
RP   TRP-101; ARG-108; ASP-127; ARG-199; SER-227; THR-227; SER-232;
RP   ARG-233; VAL-342; ASP-343; TRP-351; SER-359; ARG-363; ARG-384;
RP   CYS-393; HIS-393; VAL-400; VAL-403; PHE-406; GLY-626; ASP-762;
RP   THR-785; ILE-812; ARG-842; 854-GLY-LEU-855 DEL; CYS-859; GLN-862;
RP   PRO-890; CYS-932; PRO-933; CYS-946; HIS-946; ARG-950; LYS-954;
RP   LYS-956; LEU-957; ILE-976; VAL-979; ARG-993; 999-ASN-LEU-1000 DELINS
RP   LEU-ILE-SER; LYS-1208; LYS-1221; PHE-1230; ASP-1238; ALA-1266;
RP   ASN-1288; VAL-1320; PRO-1326; GLY-1350; ARG-1358; PRO-1370; HIS-1378;
RP   THR-1378; ILE-1394; TYR-1396; SER-1417; PHE-1423; ALA-1429 DEL;
RP   VAL-1433; LYS-1450; SER-1451; LYS-1454; HIS-1462; LYS-1476; LYS-1503;
RP   GLY-1544; GLU-1586; ARG-1588; HIS-1592; PRO-1592; SER-1605; GLU-1637;
RP   THR-1638; CYS-1648; GLU-1653; PRO-1660; PRO-1667; LEU-1668; ILE-1672;
RP   THR-1673; THR-1683; ASP-1684; TRP-1688; ARG-1714; ASN-1763; ASN-1770;
RP   PHE-1770; THR-1770; THR-1780; VAL-1783; LYS-1787; PRO-1832; LYS-1852;
RP   LEU-1855; GLU-1880; THR-1909 DEL AND ARG-1927 DELINS ILE-ILE-GLN,
RP   VARIANTS GEFS+2 LEU-218; ILE-254; GLY-291; THR-960; VAL-973; SER-1204;
RP   PHE-1230; ASP-1414; HIS-1596; LEU-1739 AND THR-1867, AND VARIANTS
RP   ASN-45; VAL-333; ASN-382; HIS-604; ILE-699; THR-924; HIS-931;
RP   GLU-1006; ILE-1079; THR-1109; ASP-1308; ASP-1326; MET-1483 AND
RP   PHE-1683.
RX   PubMed=21248271; DOI=10.1212/WNL.0b013e31820c309b;
RA   Zuberi S.M., Brunklaus A., Birch R., Reavey E., Duncan J.,
RA   Forbes G.H.;
RT   "Genotype-phenotype associations in SCN1A-related epilepsies.";
RL   Neurology 76:594-600(2011).
RN   [77]
RP   VARIANTS EIEE6 VAL-1339 AND LEU-1630.
RX   PubMed=22092154; DOI=10.1111/j.1528-1167.2011.03311.x;
RA   Okumura A., Uematsu M., Imataka G., Tanaka M., Okanishi T., Kubota T.,
RA   Sudo A., Tohyama J., Tsuji M., Ohmori I., Naiki M., Hiraiwa-Sofue A.,
RA   Sato H., Saitoh S., Shimizu T.;
RT   "Acute encephalopathy in children with Dravet syndrome.";
RL   Epilepsia 53:79-86(2012).
RN   [78]
RP   VARIANTS LEU-982; CYS-1575 AND LEU-1977.
RX   PubMed=22309220; DOI=10.1111/j.1528-1167.2011.03402.x;
RA   Saitoh M., Shinohara M., Hoshino H., Kubota M., Amemiya K.,
RA   Takanashi J.L., Hwang S.K., Hirose S., Mizuguchi M.;
RT   "Mutations of the SCN1A gene in acute encephalopathy.";
RL   Epilepsia 53:558-564(2012).
RN   [79]
RP   VARIANTS EIEE6 VAL-289; ARG-379 AND HIS-393.
RX   PubMed=22612257; DOI=10.1111/j.1528-1167.2012.03516.x;
RA   Lemke J.R., Riesch E., Scheurenbrand T., Schubach M., Wilhelm C.,
RA   Steiner I., Hansen J., Courage C., Gallati S., Buerki S., Strozzi S.,
RA   Simonetti B.G., Grunt S., Steinlin M., Alber M., Wolff M.,
RA   Klopstock T., Prott E.C., Lorenz R., Spaich C., Rona S.,
RA   Lakshminarasimhan M., Kroell J., Dorn T., Kraemer G., Synofzik M.,
RA   Becker F., Weber Y.G., Lerche H., Boehm D., Biskup S.;
RT   "Targeted next generation sequencing as a diagnostic tool in epileptic
RT   disorders.";
RL   Epilepsia 53:1387-1398(2012).
RN   [80]
RP   VARIANTS EIEE6 CYS-84; GLN-101; TRP-101; ILE-105; ARG-179; ARG-190;
RP   ARG-226; SER-227; ARG-259; ARG-280; ALA-281; PRO-363; ARG-384;
RP   HIS-393; TRP-409; CYS-426; MET-875; ILE-876; PHE-896; ILE-934;
RP   PHE-940; CYS-946; HIS-946; LEU-987; GLY-1316; VAL-1339; MET-1344;
RP   PRO-1355; VAL-1385; GLY-1418; PRO-1427; CYS-1453; HIS-1462; SER-1472;
RP   TYR-1485; GLU-1503 DEL; LYS-1503; VAL-1545; ARG-1555; GLY-1608;
RP   LEU-1630; ASN-1638; SER-1642; VAL-1662; PRO-1667; PHE-1677; THR-1683;
RP   SER-1692; CYS-1694; GLY-1727; ARG-1741; PHE-1766 DEL; PHE-1771;
RP   THR-1783; VAL-1783 AND THR-1792, VARIANTS ICEGTC SER-90; GLN-101;
RP   SER-178; MET-252; ARG-290; HIS-393; ILE-896; ALA-944; GLN-1213;
RP   CYS-1254; THR-1325; PRO-1328; LEU-1357; ARG-1376; ASP-1429; HIS-1462;
RP   LYS-1511; VAL-1619; SER-1684; PRO-1724; CYS-1781 AND TRP-1861, AND
RP   VARIANTS GLN-542; HIS- AND CYS-1575.
RX   PubMed=23195492; DOI=10.1016/j.eplepsyres.2012.06.006;
RA   Wang J.W., Shi X.Y., Kurahashi H., Hwang S.K., Ishii A., Higurashi N.,
RA   Kaneko S., Hirose S.;
RT   "Prevalence of SCN1A mutations in children with suspected Dravet
RT   syndrome and intractable childhood epilepsy.";
RL   Epilepsy Res. 102:195-200(2012).
RN   [81]
RP   VARIANTS EIEE6 ASN-194 AND ASP-1238.
RX   PubMed=23662938; DOI=10.1111/epi.12203;
RA   Kodera H., Kato M., Nord A.S., Walsh T., Lee M., Yamanaka G.,
RA   Tohyama J., Nakamura K., Nakagawa E., Ikeda T., Ben-Zeev B., Lev D.,
RA   Lerman-Sagie T., Straussberg R., Tanabe S., Ueda K., Amamoto M.,
RA   Ohta S., Nonoda Y., Nishiyama K., Tsurusaki Y., Nakashima M.,
RA   Miyake N., Hayasaka K., King M.C., Matsumoto N., Saitsu H.;
RT   "Targeted capture and sequencing for detection of mutations causing
RT   early onset epileptic encephalopathy.";
RL   Epilepsia 54:1262-1269(2013).
RN   [82]
RP   VARIANT ALA-1275.
RX   PubMed=23647072; DOI=10.1111/epi.12201;
RA   Veeramah K.R., Johnstone L., Karafet T.M., Wolf D., Sprissler R.,
RA   Salogiannis J., Barth-Maron A., Greenberg M.E., Stuhlmann T.,
RA   Weinert S., Jentsch T.J., Pazzi M., Restifo L.L., Talwar D.,
RA   Erickson R.P., Hammer M.F.;
RT   "Exome sequencing reveals new causal mutations in children with
RT   epileptic encephalopathies.";
RL   Epilepsia 54:1270-1281(2013).
RN   [83]
RP   VARIANTS ASN-45 AND TRP-1988, AND VARIANT ICEGTC SER-359.
RX   PubMed=23708187; DOI=10.1038/ng.2646;
RA   Carvill G.L., Heavin S.B., Yendle S.C., McMahon J.M., O'Roak B.J.,
RA   Cook J., Khan A., Dorschner M.O., Weaver M., Calvert S., Malone S.,
RA   Wallace G., Stanley T., Bye A.M., Bleasel A., Howell K.B., Kivity S.,
RA   Mackay M.T., Rodriguez-Casero V., Webster R., Korczyn A., Afawi Z.,
RA   Zelnick N., Lerman-Sagie T., Lev D., Moeller R.S., Gill D.,
RA   Andrade D.M., Freeman J.L., Sadleir L.G., Shendure J., Berkovic S.F.,
RA   Scheffer I.E., Mefford H.C.;
RT   "Targeted resequencing in epileptic encephalopathies identifies de
RT   novo mutations in CHD2 and SYNGAP1.";
RL   Nat. Genet. 45:825-830(2013).
RN   [84]
RP   VARIANTS EIEE6 THR-113; 450-GLN--LYS-2009 DEL AND ARG-1588.
RX   PubMed=25818041; DOI=10.1111/epi.12954;
RA   Mercimek-Mahmutoglu S., Patel J., Cordeiro D., Hewson S., Callen D.,
RA   Donner E.J., Hahn C.D., Kannu P., Kobayashi J., Minassian B.A.,
RA   Moharir M., Siriwardena K., Weiss S.K., Weksberg R., Snead O.C. III;
RT   "Diagnostic yield of genetic testing in epileptic encephalopathy in
RT   childhood.";
RL   Epilepsia 56:707-716(2015).
RN   [85]
RP   VARIANTS LEU-982; CYS-1575 AND SER-1674.
RX   PubMed=26311622; DOI=10.1016/j.eplepsyres.2015.08.001;
RA   Saitoh M., Ishii A., Ihara Y., Hoshino A., Terashima H., Kubota M.,
RA   Kikuchi K., Yamanaka G., Amemiya K., Hirose S., Mizuguchi M.;
RT   "Missense mutations in sodium channel SCN1A and SCN2A predispose
RT   children to encephalopathy with severe febrile seizures.";
RL   Epilepsy Res. 117:1-6(2015).
RN   [86]
RP   VARIANT VAL-1440.
RX   PubMed=26637798; DOI=10.1016/j.neuron.2015.11.009;
RA   D'Gama A.M., Pochareddy S., Li M., Jamuar S.S., Reiff R.E., Lam A.T.,
RA   Sestan N., Walsh C.A.;
RT   "Targeted DNA Sequencing from Autism Spectrum Disorder Brains
RT   Implicates Multiple Genetic Mechanisms.";
RL   Neuron 88:910-917(2015).
RN   [87]
RP   VARIANTS EIEE6 GLN-101; 1284-TRP--LYS-2009 DEL AND LEU-1345.
RX   PubMed=26993267; DOI=10.1136/jmedgenet-2015-103263;
RA   Trump N., McTague A., Brittain H., Papandreou A., Meyer E., Ngoh A.,
RA   Palmer R., Morrogh D., Boustred C., Hurst J.A., Jenkins L.,
RA   Kurian M.A., Scott R.H.;
RT   "Improving diagnosis and broadening the phenotypes in early-onset
RT   seizure and severe developmental delay disorders through gene panel
RT   analysis.";
RL   J. Med. Genet. 53:310-317(2016).
RN   [88]
RP   VARIANT HIS-393.
RX   PubMed=28544625; DOI=10.1002/ajmg.a.38282;
RA   Le S.V., Le P.H.T., Le T.K.V., Kieu Huynh T.T., Hang Do T.T.;
RT   "A mutation in GABRB3 associated with Dravet syndrome.";
RL   Am. J. Med. Genet. A 173:2126-2131(2017).
RN   [89]
RP   VARIANTS EIEE6 ARG-190; PRO-228; ILE-1605 AND GLN-1645, AND VARIANT
RP   ASP-616.
RX   PubMed=27864847; DOI=10.1002/humu.23149;
RG   Clinical Study Group;
RA   Parrini E., Marini C., Mei D., Galuppi A., Cellini E., Pucatti D.,
RA   Chiti L., Rutigliano D., Bianchini C., Virdo S., De Vita D.,
RA   Bigoni S., Barba C., Mari F., Montomoli M., Pisano T., Rosati A.,
RA   Guerrini R.;
RT   "Diagnostic targeted resequencing in 349 patients with drug-resistant
RT   pediatric epilepsies identifies causative mutations in 30 different
RT   genes.";
RL   Hum. Mutat. 38:216-225(2017).
CC   -!- FUNCTION: Mediates the voltage-dependent sodium ion permeability
CC       of excitable membranes. Assuming opened or closed conformations in
CC       response to the voltage difference across the membrane, the
CC       protein forms a sodium-selective channel through which Na(+) ions
CC       may pass in accordance with their electrochemical gradient. Plays
CC       a key role in brain, probably by regulating the moment when
CC       neurotransmitters are released in neurons. Involved in sensory
CC       perception of mechanical pain: activation in somatosensory neurons
CC       induces pain without neurogenic inflammation and produces
CC       hypersensitivity to mechanical, but not thermal stimuli.
CC       {ECO:0000250|UniProtKB:A2APX8}.
CC   -!- ENZYME REGULATION: Inactivation of this channel is specifically
CC       inhibited by the spider toxins Hm1a and Hm1b (H.maculata, AC
CC       P60992 and AC P0DOC5) in somatosensory neurons to elicit acute
CC       pain and mechanical allodynia. {ECO:0000250|UniProtKB:A2APX8}.
CC   -!- SUBUNIT: The voltage-sensitive sodium channel consists of an ion
CC       conducting pore forming alpha-subunit regulated by one or more
CC       beta-1 (SCN1B), beta-2 (SCN2B), beta-3 (SCN3B) and/or beta-4
CC       (SCN4B). Beta-1 (SCN1B) and beta-3 (SCN3B) are non-covalently
CC       associated with alpha, while beta-2 (SCN2B) and beta-4 (SCN4B) are
CC       covalently linked by disulfide bonds. Interacts with FGF13
CC       (PubMed:21566136). Interacts with SCN1B (PubMed:17928445,
CC       PubMed:15525788). Interacts with the conotoxin GVIIJ
CC       (PubMed:24497506). Interacts with the spider beta/delta-
CC       theraphotoxin-Pre1a (PubMed:28428547).
CC       {ECO:0000269|PubMed:15525788, ECO:0000269|PubMed:17928445,
CC       ECO:0000269|PubMed:21566136, ECO:0000269|PubMed:24497506,
CC       ECO:0000269|PubMed:28428547}.
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17928445};
CC       Multi-pass membrane protein {ECO:0000250|UniProtKB:D0E0C2}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=P35498-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=P35498-2; Sequence=VSP_001031;
CC       Name=3;
CC         IsoId=P35498-3; Sequence=VSP_045399;
CC   -!- DOMAIN: The sequence contains 4 internal repeats, each with 5
CC       hydrophobic segments (S1, S2, S3, S5, S6) and one positively
CC       charged segment (S4). Segments S4 are probably the voltage-sensors
CC       and are characterized by a series of positively charged amino
CC       acids at every third position. {ECO:0000305}.
CC   -!- DOMAIN: The S3b-S4 and S1-S2 loops of repeat IV are targeted by
CC       H.maculata toxins Hm1a and Hm1b, leading to inhibit fast
CC       inactivation of Nav1.1/SCN1A. Selectivity for H.maculata toxins
CC       Hm1a and Hm1b depends on S1-S2 loops of repeat IV.
CC       {ECO:0000250|UniProtKB:A2APX8}.
CC   -!- PTM: Phosphorylation at Ser-1516 by PKC in a highly conserved
CC       cytoplasmic loop slows inactivation of the sodium channel and
CC       reduces peak sodium currents. {ECO:0000250|UniProtKB:P04775}.
CC   -!- DISEASE: Generalized epilepsy with febrile seizures plus 2
CC       (GEFS+2) [MIM:604403]: A rare autosomal dominant, familial
CC       condition with incomplete penetrance and large intrafamilial
CC       variability. Patients display febrile seizures persisting
CC       sometimes beyond the age of 6 years and/or a variety of afebrile
CC       seizure types. This disease combines febrile seizures, generalized
CC       seizures often precipitated by fever at age 6 years or more, and
CC       partial seizures, with a variable degree of severity.
CC       {ECO:0000269|PubMed:10742094, ECO:0000269|PubMed:11254444,
CC       ECO:0000269|PubMed:11254445, ECO:0000269|PubMed:11524484,
CC       ECO:0000269|PubMed:11756608, ECO:0000269|PubMed:12535936,
CC       ECO:0000269|PubMed:12576172, ECO:0000269|PubMed:12919402,
CC       ECO:0000269|PubMed:14672992, ECO:0000269|PubMed:15525788,
CC       ECO:0000269|PubMed:15694566, ECO:0000269|PubMed:15715999,
CC       ECO:0000269|PubMed:16525050, ECO:0000269|PubMed:17347258,
CC       ECO:0000269|PubMed:17507202, ECO:0000269|PubMed:17561957,
CC       ECO:0000269|PubMed:17927801, ECO:0000269|PubMed:17928445,
CC       ECO:0000269|PubMed:18251839, ECO:0000269|PubMed:18413471,
CC       ECO:0000269|PubMed:18566737, ECO:0000269|PubMed:19339291,
CC       ECO:0000269|PubMed:19464195, ECO:0000269|PubMed:19522081,
CC       ECO:0000269|PubMed:20117752, ECO:0000269|PubMed:20550552,
CC       ECO:0000269|PubMed:20600615, ECO:0000269|PubMed:20729507,
CC       ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:21864321}.
CC       Note=The disease is caused by mutations affecting the gene
CC       represented in this entry.
CC   -!- DISEASE: Epileptic encephalopathy, early infantile, 6 (EIEE6)
CC       [MIM:607208]: A severe form of epileptic encephalopathy
CC       characterized by generalized tonic, clonic, and tonic-clonic
CC       seizures that are initially induced by fever and begin during the
CC       first year of life. Later, patients also manifest other seizure
CC       types, including absence, myoclonic, and simple and complex
CC       partial seizures. Psychomotor development delay is observed around
CC       the second year of life. Some patients manifest a borderline
CC       disease phenotype and do not necessarily fulfill all diagnostic
CC       criteria for core EIEE6. EIEE6 is considered to be the most severe
CC       phenotype within the spectrum of generalized epilepsies with
CC       febrile seizures-plus. {ECO:0000269|PubMed:11359211,
CC       ECO:0000269|PubMed:12083760, ECO:0000269|PubMed:12566275,
CC       ECO:0000269|PubMed:12754708, ECO:0000269|PubMed:12821740,
CC       ECO:0000269|PubMed:14504318, ECO:0000269|PubMed:14672992,
CC       ECO:0000269|PubMed:14738421, ECO:0000269|PubMed:15087100,
CC       ECO:0000269|PubMed:15944908, ECO:0000269|PubMed:16122630,
CC       ECO:0000269|PubMed:16458823, ECO:0000269|PubMed:16713920,
CC       ECO:0000269|PubMed:17054684, ECO:0000269|PubMed:17054685,
CC       ECO:0000269|PubMed:17129991, ECO:0000269|PubMed:17347258,
CC       ECO:0000269|PubMed:17561957, ECO:0000269|PubMed:18413471,
CC       ECO:0000269|PubMed:18639757, ECO:0000269|PubMed:18930999,
CC       ECO:0000269|PubMed:19522081, ECO:0000269|PubMed:19563458,
CC       ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:19783390,
CC       ECO:0000269|PubMed:20110217, ECO:0000269|PubMed:20431604,
CC       ECO:0000269|PubMed:20452746, ECO:0000269|PubMed:20522430,
CC       ECO:0000269|PubMed:20729507, ECO:0000269|PubMed:21248271,
CC       ECO:0000269|PubMed:21864321, ECO:0000269|PubMed:22092154,
CC       ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:23195492,
CC       ECO:0000269|PubMed:23662938, ECO:0000269|PubMed:23708187,
CC       ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26993267,
CC       ECO:0000269|PubMed:27864847}. Note=The disease is caused by
CC       mutations affecting the gene represented in this entry.
CC   -!- DISEASE: Intractable childhood epilepsy with generalized tonic-
CC       clonic seizures (ICEGTC) [MIM:607208]: A disorder characterized by
CC       generalized tonic-clonic seizures beginning usually in infancy and
CC       induced by fever. Seizures are associated with subsequent mental
CC       decline, as well as ataxia or hypotonia. ICEGTC is similar to
CC       SMEI, except for the absence of myoclonic seizures.
CC       {ECO:0000269|PubMed:12566275, ECO:0000269|PubMed:16210358,
CC       ECO:0000269|PubMed:17507202, ECO:0000269|PubMed:23195492,
CC       ECO:0000269|PubMed:23708187}. Note=The disease is caused by
CC       mutations affecting the gene represented in this entry.
CC   -!- DISEASE: Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]: A
CC       subtype of migraine associated with transient blindness in some
CC       families. Migraine is a disabling symptom complex of periodic
CC       headaches, usually temporal and unilateral. Headaches are often
CC       accompanied by irritability, nausea, vomiting and photophobia,
CC       preceded by constriction of the cranial arteries. The two major
CC       subtypes are common migraine (migraine without aura) and classic
CC       migraine (migraine with aura). Classic migraine is characterized
CC       by recurrent attacks of reversible neurological symptoms (aura)
CC       that precede or accompany the headache. Aura may include a
CC       combination of sensory disturbances, such as blurred vision,
CC       hallucinations, vertigo, numbness and difficulty in concentrating
CC       and speaking. {ECO:0000269|PubMed:16054936,
CC       ECO:0000269|PubMed:17397047, ECO:0000269|PubMed:18021921,
CC       ECO:0000269|PubMed:19332696}. Note=The disease is caused by
CC       mutations affecting the gene represented in this entry.
CC   -!- DISEASE: Febrile seizures, familial, 3A (FEB3A) [MIM:604403]:
CC       Seizures associated with febrile episodes in childhood without any
CC       evidence of intracranial infection or defined pathologic or
CC       traumatic cause. It is a common condition, affecting 2-5% of
CC       children aged 3 months to 5 years. The majority are simple febrile
CC       seizures (generally defined as generalized onset, single seizures
CC       with a duration of less than 30 minutes). Complex febrile seizures
CC       are characterized by focal onset, duration greater than 30
CC       minutes, and/or more than one seizure in a 24 hour period. The
CC       likelihood of developing epilepsy following simple febrile
CC       seizures is low. Complex febrile seizures are associated with a
CC       moderately increased incidence of epilepsy.
CC       {ECO:0000269|PubMed:16326807, ECO:0000269|PubMed:19522081}.
CC       Note=The disease is caused by mutations affecting the gene
CC       represented in this entry.
CC   -!- DISEASE: Note=SCN1A mutations may be involved in Panayiotopoulos
CC       syndrome, a benign age-related focal seizure disorder occurring in
CC       early and mid-childhood. It is characterized by seizures, often
CC       prolonged, with predominantly autonomic symptoms, and by an
CC       electroencephalogram that shows shifting and/or multiple foci,
CC       often with occipital predominance. Autonomic seizures in
CC       Panayiotopoulos syndrome consist of episodes of disturbed
CC       autonomic function with emesis as the predominant symptom.
CC       Cardiorespiratory arrest is exceptional.
CC       {ECO:0000269|PubMed:17679682, ECO:0000269|PubMed:19339291,
CC       ECO:0000269|PubMed:19522081}.
CC   -!- SIMILARITY: Belongs to the sodium channel (TC 1.A.1.10) family.
CC       Nav1.1/SCN1A subfamily. {ECO:0000305}.
DR   EMBL; AF225985; AAK00217.1; -; mRNA.
DR   EMBL; AY043484; AAK95360.1; -; mRNA.
DR   EMBL; AB093548; BAC21101.1; -; mRNA.
DR   EMBL; AB093549; BAC21102.1; -; mRNA.
DR   EMBL; AB098335; BAC45228.1; -; mRNA.
DR   EMBL; AC010127; AAX81984.1; -; Genomic_DNA.
DR   EMBL; S71446; AAB31605.1; -; Genomic_DNA.
DR   EMBL; X65362; CAA46439.1; -; mRNA.
DR   EMBL; M91803; -; NOT_ANNOTATED_CDS; mRNA.
DR   CCDS; CCDS33316.1; -. [P35498-2]
DR   CCDS; CCDS54413.1; -. [P35498-1]
DR   CCDS; CCDS54414.1; -. [P35498-3]
DR   PIR; I52964; I52964.
DR   PIR; S29184; S29184.
DR   RefSeq; NP_001159435.1; NM_001165963.1. [P35498-1]
DR   RefSeq; NP_001159436.1; NM_001165964.1. [P35498-3]
DR   RefSeq; NP_001189364.1; NM_001202435.1. [P35498-1]
DR   RefSeq; NP_008851.3; NM_006920.4. [P35498-2]
DR   RefSeq; XP_011509904.1; XM_011511602.2. [P35498-1]
DR   RefSeq; XP_011509906.1; XM_011511604.2. [P35498-2]
DR   RefSeq; XP_011509908.1; XM_011511606.2. [P35498-3]
DR   RefSeq; XP_016860133.1; XM_017004644.1. [P35498-1]
DR   RefSeq; XP_016860134.1; XM_017004645.1. [P35498-2]
DR   RefSeq; XP_016860135.1; XM_017004646.1. [P35498-2]
DR   RefSeq; XP_016860136.1; XM_017004647.1. [P35498-2]
DR   RefSeq; XP_016860137.1; XM_017004648.1. [P35498-2]
DR   RefSeq; XP_016860138.1; XM_017004649.1. [P35498-2]
DR   RefSeq; XP_016860140.1; XM_017004651.1. [P35498-3]
DR   RefSeq; XP_016860141.1; XM_017004652.1. [P35498-3]
DR   UniGene; Hs.22654; -.
DR   UniGene; Hs.629873; -.
DR   UniGene; Hs.693440; -.
DR   UniGene; Hs.740081; -.
DR   ProteinModelPortal; P35498; -.
DR   SMR; P35498; -.
DR   BioGrid; 112228; 3.
DR   DIP; DIP-59851N; -.
DR   IntAct; P35498; 3.
DR   MINT; MINT-6542725; -.
DR   STRING; 9606.ENSP00000303540; -.
DR   BindingDB; P35498; -.
DR   ChEMBL; CHEMBL1845; -.
DR   DrugBank; DB04855; Dronedarone.
DR   DrugBank; DB01595; Nitrazepam.
DR   DrugBank; DB04930; Permethrin.
DR   DrugBank; DB01121; Phenacemide.
DR   DrugBank; DB01438; Phenazopyridine.
DR   DrugBank; DB00252; Phenytoin.
DR   DrugBank; DB05232; Tetrodotoxin.
DR   DrugBank; DB00273; Topiramate.
DR   DrugBank; DB00313; Valproic Acid.
DR   DrugBank; DB00909; Zonisamide.
DR   GuidetoPHARMACOLOGY; 578; -.
DR   TCDB; 1.A.1.10.7; the voltage-gated ion channel (vic) superfamily.
DR   iPTMnet; P35498; -.
DR   PhosphoSitePlus; P35498; -.
DR   BioMuta; SCN1A; -.
DR   DMDM; 12644229; -.
DR   PaxDb; P35498; -.
DR   PeptideAtlas; P35498; -.
DR   PRIDE; P35498; -.
DR   Ensembl; ENST00000303395; ENSP00000303540; ENSG00000144285. [P35498-1]
DR   Ensembl; ENST00000375405; ENSP00000364554; ENSG00000144285. [P35498-2]
DR   Ensembl; ENST00000409050; ENSP00000386312; ENSG00000144285. [P35498-3]
DR   Ensembl; ENST00000423058; ENSP00000407030; ENSG00000144285. [P35498-1]
DR   Ensembl; ENST00000635750; ENSP00000490799; ENSG00000144285. [P35498-2]
DR   Ensembl; ENST00000637988; ENSP00000490780; ENSG00000144285. [P35498-2]
DR   GeneID; 6323; -.
DR   KEGG; hsa:6323; -.
DR   UCSC; uc061pes.1; human. [P35498-1]
DR   CTD; 6323; -.
DR   DisGeNET; 6323; -.
DR   EuPathDB; HostDB:ENSG00000144285.15; -.
DR   GeneCards; SCN1A; -.
DR   GeneReviews; SCN1A; -.
DR   HGNC; HGNC:10585; SCN1A.
DR   HPA; HPA078664; -.
DR   MalaCards; SCN1A; -.
DR   MIM; 182389; gene.
DR   MIM; 604403; phenotype.
DR   MIM; 607208; phenotype.
DR   MIM; 609634; phenotype.
DR   neXtProt; NX_P35498; -.
DR   OpenTargets; ENSG00000144285; -.
DR   Orphanet; 33069; Dravet syndrome.
DR   Orphanet; 569; Familial or sporadic hemiplegic migraine.
DR   Orphanet; 36387; Generalized epilepsy with febrile seizures-plus.
DR   Orphanet; 2382; Lennox-Gastaut syndrome.
DR   Orphanet; 293181; Malignant migrating partial seizures of infancy.
DR   PharmGKB; PA301; -.
DR   eggNOG; ENOG410INF8; Eukaryota.
DR   eggNOG; COG1226; LUCA.
DR   GeneTree; ENSGT00830000128242; -.
DR   HOGENOM; HOG000231755; -.
DR   HOVERGEN; HBG053100; -.
DR   InParanoid; P35498; -.
DR   KO; K04833; -.
DR   OMA; CMSNHTT; -.
DR   OrthoDB; EOG091G00FK; -.
DR   PhylomeDB; P35498; -.
DR   TreeFam; TF323985; -.
DR   Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
DR   Reactome; R-HSA-5576892; Phase 0 - rapid depolarisation.
DR   SIGNOR; P35498; -.
DR   GeneWiki; Nav1.1; -.
DR   GenomeRNAi; 6323; -.
DR   PRO; PR:P35498; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   Bgee; ENSG00000144285; -.
DR   CleanEx; HS_SCN1A; -.
DR   ExpressionAtlas; P35498; baseline and differential.
DR   Genevisible; P35498; HS.
DR   GO; GO:0043194; C:axon initial segment; IEA:Ensembl.
DR   GO; GO:0014704; C:intercalated disc; IEA:Ensembl.
DR   GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
DR   GO; GO:0033268; C:node of Ranvier; IEA:Ensembl.
DR   GO; GO:0016604; C:nuclear body; IDA:HPA.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR   GO; GO:0030315; C:T-tubule; IEA:Ensembl.
DR   GO; GO:0001518; C:voltage-gated sodium channel complex; IEA:InterPro.
DR   GO; GO:0030018; C:Z disc; ISS:BHF-UCL.
DR   GO; GO:0005248; F:voltage-gated sodium channel activity; ISS:UniProtKB.
DR   GO; GO:0007628; P:adult walking behavior; IEA:Ensembl.
DR   GO; GO:0086002; P:cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL.
DR   GO; GO:0050966; P:detection of mechanical stimulus involved in sensory perception of pain; ISS:UniProtKB.
DR   GO; GO:0086010; P:membrane depolarization during action potential; IBA:GO_Central.
DR   GO; GO:0050884; P:neuromuscular process controlling posture; IEA:Ensembl.
DR   GO; GO:0019228; P:neuronal action potential; IBA:GO_Central.
DR   GO; GO:0019227; P:neuronal action potential propagation; IEA:Ensembl.
DR   GO; GO:0006814; P:sodium ion transport; ISS:UniProtKB.
DR   InterPro; IPR005821; Ion_trans_dom.
DR   InterPro; IPR008051; Na_channel_a1su.
DR   InterPro; IPR001696; Na_channel_asu.
DR   InterPro; IPR010526; Na_trans_assoc.
DR   InterPro; IPR024583; Na_trans_cytopl.
DR   Pfam; PF00520; Ion_trans; 4.
DR   Pfam; PF06512; Na_trans_assoc; 1.
DR   Pfam; PF11933; Na_trans_cytopl; 1.
DR   PRINTS; PR00170; NACHANNEL.
DR   PRINTS; PR01664; NACHANNEL1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Autism; Autism spectrum disorder; Cell membrane;
KW   Complete proteome; Disease mutation; Disulfide bond; Epilepsy;
KW   Glycoprotein; Ion channel; Ion transport; Membrane; Phosphoprotein;
KW   Polymorphism; Reference proteome; Repeat; Sodium; Sodium channel;
KW   Sodium transport; Transmembrane; Transmembrane helix; Transport;
KW   Voltage-gated channel.
FT   CHAIN         1   2009       Sodium channel protein type 1 subunit
FT                                alpha.
FT                                /FTId=PRO_0000048489.
FT   TOPO_DOM      1    128       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM    129    147       Helical; Name=S1 of repeat I.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    148    154       Extracellular. {ECO:0000305}.
FT   TRANSMEM    155    175       Helical; Name=S2 of repeat I.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    176    189       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM    190    207       Helical; Name=S3 of repeat I.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    208    213       Extracellular. {ECO:0000305}.
FT   TRANSMEM    214    230       Helical; Name=S4 of repeat I.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    231    249       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM    250    269       Helical; Name=S5 of repeat I.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    270    367       Extracellular. {ECO:0000305}.
FT   INTRAMEM    368    392       Pore-forming.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    393    399       Extracellular. {ECO:0000305}.
FT   TRANSMEM    400    420       Helical; Name=S6 of repeat I.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    421    768       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM    769    787       Helical; Name=S1 of repeat II.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    788    798       Extracellular. {ECO:0000305}.
FT   TRANSMEM    799    818       Helical; Name=S2 of repeat II.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    819    832       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM    833    852       Helical; Name=S3 of repeat II.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    853    854       Extracellular. {ECO:0000305}.
FT   TRANSMEM    855    872       Helical; Name=S4 of repeat II.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    873    888       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM    889    907       Helical; Name=S5 of repeat II.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    908    936       Extracellular. {ECO:0000305}.
FT   INTRAMEM    937    957       Pore-forming.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    958    970       Extracellular. {ECO:0000305}.
FT   TRANSMEM    971    991       Helical; Name=S6 of repeat II.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    992   1219       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM   1220   1237       Helical; Name=S1 of repeat III.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1238   1250       Extracellular. {ECO:0000305}.
FT   TRANSMEM   1251   1269       Helical; Name=S2 of repeat III.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1270   1283       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM   1284   1302       Helical; Name=S3 of repeat III.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1303   1310       Extracellular. {ECO:0000305}.
FT   TRANSMEM   1311   1329       Helical; Name=S4 of repeat III.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1330   1346       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM   1347   1366       Helical; Name=S5 of repeat III.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1367   1418       Extracellular. {ECO:0000305}.
FT   INTRAMEM   1419   1440       Pore-forming.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1441   1457       Extracellular. {ECO:0000305}.
FT   TRANSMEM   1458   1479       Helical; Name=S6 of repeat III.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1480   1542       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM   1543   1560       Helical; Name=S1 of repeat IV.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1561   1571       Extracellular. {ECO:0000305}.
FT   TRANSMEM   1572   1590       Helical; Name=S2 of repeat IV.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1591   1602       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM   1603   1620       Helical; Name=S3 of repeat IV.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1621   1633       Extracellular. {ECO:0000305}.
FT   TRANSMEM   1634   1650       Helical; Name=S4 of repeat IV.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1651   1669       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM   1670   1687       Helical; Name=S5 of repeat IV.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1688   1709       Extracellular. {ECO:0000305}.
FT   INTRAMEM   1710   1732       Pore-forming.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1733   1762       Extracellular. {ECO:0000305}.
FT   TRANSMEM   1763   1785       Helical; Name=S6 of repeat IV.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1786   2009       Cytoplasmic. {ECO:0000305}.
FT   REPEAT      110    454       I. {ECO:0000305}.
FT   REPEAT      750   1022       II. {ECO:0000305}.
FT   REPEAT     1200   1514       III. {ECO:0000305}.
FT   REPEAT     1523   1821       IV. {ECO:0000305}.
FT   DOMAIN     1915   1944       IQ.
FT   REGION     1561   1571       S1-S2 loop of repeat IV.
FT                                {ECO:0000250|UniProtKB:A2APX8}.
FT   REGION     1619   1636       S3b-S4 loop of repeat IV.
FT                                {ECO:0000250|UniProtKB:A2APX8}.
FT   SITE       1574   1574       Key residue that permits the spider
FT                                beta/delta-theraphotoxin-Pre1a to inhibit
FT                                fast inactivation of the channel.
FT                                {ECO:0000269|PubMed:28428547}.
FT   MOD_RES     470    470       Phosphoserine.
FT                                {ECO:0000250|UniProtKB:P04774}.
FT   MOD_RES     523    523       Phosphoserine.
FT                                {ECO:0000250|UniProtKB:P04774}.
FT   MOD_RES     525    525       Phosphoserine.
FT                                {ECO:0000250|UniProtKB:P04774}.
FT   MOD_RES     550    550       Phosphoserine.
FT                                {ECO:0000250|UniProtKB:P04774}.
FT   MOD_RES     551    551       Phosphoserine.
FT                                {ECO:0000250|UniProtKB:A2APX8}.
FT   MOD_RES     607    607       Phosphoserine.
FT                                {ECO:0000250|UniProtKB:P04774}.
FT   MOD_RES     730    730       Phosphoserine.
FT                                {ECO:0000250|UniProtKB:P04774}.
FT   MOD_RES    1516   1516       Phosphoserine; by PKC.
FT                                {ECO:0000250|UniProtKB:P04775}.
FT   CARBOHYD    211    211       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    284    284       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    295    295       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    301    301       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    306    306       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    338    338       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1378   1378       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1392   1392       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1403   1403       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   DISULFID    277    345       {ECO:0000250|UniProtKB:D0E0C2}.
FT   DISULFID    919    919       Interchain; with SCN2B or SCN4B.
FT                                {ECO:0000250|UniProtKB:P04775}.
FT   DISULFID    919    919       Interchain; with the conotoxin GVIIJ
FT                                (when the channel is not linked to SCN2B
FT                                or SCN4B; the bond to SCN2B or SCN4B
FT                                protects the channel from the inhibition
FT                                by toxin).
FT                                {ECO:0000250|UniProtKB:P04775}.
FT   DISULFID    959    968       {ECO:0000250|UniProtKB:D0E0C2}.
FT   VAR_SEQ     654    681       Missing (in isoform 3).
FT                                {ECO:0000303|Ref.4}.
FT                                /FTId=VSP_045399.
FT   VAR_SEQ     671    681       Missing (in isoform 2).
FT                                {ECO:0000303|Ref.2, ECO:0000303|Ref.3,
FT                                ECO:0000303|Ref.4}.
FT                                /FTId=VSP_001031.
FT   VARIANT      17     17       Missing (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073441.
FT   VARIANT      27     27       R -> T (in GEFS+2; dbSNP:rs121917906).
FT                                {ECO:0000269|PubMed:20729507}.
FT                                /FTId=VAR_064229.
FT   VARIANT      45     45       D -> N (found in a patient with an
FT                                unclassified form of epilepsy; also found
FT                                in a patient with epilepsy-aphasia and
FT                                febrile seizures plus; unknown
FT                                pathological significance;
FT                                dbSNP:rs531894715).
FT                                {ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23708187}.
FT                                /FTId=VAR_073442.
FT   VARIANT      58     58       G -> V (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073443.
FT   VARIANT      61     61       L -> F (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073444.
FT   VARIANT      63     63       F -> L (in EIEE6; dbSNP:rs121917907).
FT                                {ECO:0000269|PubMed:20729507}.
FT                                /FTId=VAR_064230.
FT   VARIANT      68     68       I -> T (in EIEE6; borderline phenotype;
FT                                dbSNP:rs758871507).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073445.
FT   VARIANT      74     74       S -> P (in GEFS+2; dbSNP:rs121917931).
FT                                {ECO:0000269|PubMed:17561957}.
FT                                /FTId=VAR_064295.
FT   VARIANT      78     78       E -> D (in EIEE6; dbSNP:rs121917933).
FT                                {ECO:0000269|PubMed:12821740,
FT                                ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_029660.
FT   VARIANT      79     79       D -> H (in EIEE6; borderline phenotype;
FT                                dbSNP:rs121917982).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_064346.
FT   VARIANT      79     79       D -> N (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073446.
FT   VARIANT      84     84       Y -> C (in EIEE6; dbSNP:rs121917964).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:19589774,
FT                                ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23195492,
FT                                ECO:0000269|PubMed:27864847}.
FT                                /FTId=VAR_043349.
FT   VARIANT      90     90       F -> S (in EIEE6 and ICEGTC;
FT                                dbSNP:rs121918733).
FT                                {ECO:0000269|PubMed:20431604,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_064231.
FT   VARIANT      91     91       I -> T (in EIEE6; dbSNP:rs121918734).
FT                                {ECO:0000269|PubMed:20431604}.
FT                                /FTId=VAR_064232.
FT   VARIANT      98     98       A -> P (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073447.
FT   VARIANT     101    101       R -> Q (in EIEE6 and ICEGTC;
FT                                dbSNP:rs121917918).
FT                                {ECO:0000269|PubMed:14738421,
FT                                ECO:0000269|PubMed:17561957,
FT                                ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:19589774,
FT                                ECO:0000269|PubMed:20431604,
FT                                ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23195492,
FT                                ECO:0000269|PubMed:26993267}.
FT                                /FTId=VAR_029661.
FT   VARIANT     101    101       R -> W (in EIEE6; dbSNP:rs121917965).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:20431604,
FT                                ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_064233.
FT   VARIANT     103    103       S -> G (in EIEE6; dbSNP:rs121918743).
FT                                {ECO:0000269|PubMed:12566275}.
FT                                /FTId=VAR_029662.
FT   VARIANT     105    105       T -> I (in EIEE6; dbSNP:rs796053089).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073448.
FT   VARIANT     108    108       L -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073449.
FT   VARIANT     112    112       T -> I (in EIEE6; dbSNP:rs121918745).
FT                                {ECO:0000269|PubMed:12566275}.
FT                                /FTId=VAR_029663.
FT   VARIANT     113    113       P -> T (in EIEE6; dbSNP:rs794726711).
FT                                {ECO:0000269|PubMed:25818041}.
FT                                /FTId=VAR_078725.
FT   VARIANT     118    118       R -> S (in EIEE6; dbSNP:rs121917959).
FT                                {ECO:0000269|PubMed:18413471}.
FT                                /FTId=VAR_043350.
FT   VARIANT     124    124       I -> N (in EIEE6; dbSNP:rs121918761).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:20522430}.
FT                                /FTId=VAR_064234.
FT   VARIANT     127    127       H -> D (in EIEE6; borderline phenotype;
FT                                dbSNP:rs148442069).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073450.
FT   VARIANT     145    145       M -> T (in FEB3A; loss of function;
FT                                dbSNP:rs121918631).
FT                                {ECO:0000269|PubMed:16326807}.
FT                                /FTId=VAR_025366.
FT   VARIANT     162    162       T -> P (in EIEE6; dbSNP:rs121917934).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064296.
FT   VARIANT     171    171       I -> K (in EIEE6; dbSNP:rs121918766).
FT                                {ECO:0000269|PubMed:19589774}.
FT                                /FTId=VAR_064235.
FT   VARIANT     171    171       I -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073451.
FT   VARIANT     175    175       A -> T (in EIEE6; dbSNP:rs121918767).
FT                                {ECO:0000269|PubMed:19589774}.
FT                                /FTId=VAR_064236.
FT   VARIANT     175    175       A -> V (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073452.
FT   VARIANT     177    177       G -> E (in EIEE6; results in a non-
FT                                functional channel; dbSNP:rs121918770).
FT                                {ECO:0000269|PubMed:12821740,
FT                                ECO:0000269|PubMed:17054685}.
FT                                /FTId=VAR_029664.
FT   VARIANT     178    178       F -> S (in ICEGTC).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073453.
FT   VARIANT     179    179       C -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073454.
FT   VARIANT     188    188       D -> V (in GEFS+2; results in increased
FT                                membrane excitability as suggested by
FT                                increased resistance to cumulative
FT                                inactivation during high frequency
FT                                activation; dbSNP:rs121917953).
FT                                {ECO:0000269|PubMed:11254444,
FT                                ECO:0000269|PubMed:12576172}.
FT                                /FTId=VAR_014267.
FT   VARIANT     190    190       W -> R (in EIEE6; dbSNP:rs121918773).
FT                                {ECO:0000269|PubMed:14738421,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_029665.
FT   VARIANT     191    191       N -> K (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073455.
FT   VARIANT     191    191       N -> Y (in EIEE6; dbSNP:rs121918762).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:20522430}.
FT                                /FTId=VAR_064237.
FT   VARIANT     194    194       D -> G (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073456.
FT   VARIANT     194    194       D -> N (in EIEE6; dbSNP:rs121917935).
FT                                {ECO:0000269|PubMed:17054684,
FT                                ECO:0000269|PubMed:19589774,
FT                                ECO:0000269|PubMed:23662938,
FT                                ECO:0000269|PubMed:27864847}.
FT                                /FTId=VAR_064238.
FT   VARIANT     199    199       T -> R (in EIEE6; borderline phenotype
FT                                with spike wave activity;
FT                                dbSNP:rs121917983).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_064347.
FT   VARIANT     217    217       T -> K (in EIEE6; dbSNP:rs121917936).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064297.
FT   VARIANT     218    218       F -> L (in GEFS+2; also found in patients
FT                                with Panayiotopoulos syndrome).
FT                                {ECO:0000269|PubMed:19339291,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073457.
FT   VARIANT     223    223       A -> E (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073458.
FT   VARIANT     226    226       T -> M (in EIEE6; borderline phenotype;
FT                                also found in a patient with cryptogenic
FT                                generalized epilepsy; dbSNP:rs121917984).
FT                                {ECO:0000269|PubMed:17347258}.
FT                                /FTId=VAR_043351.
FT   VARIANT     226    226       T -> R (in EIEE6; dbSNP:rs121917984).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073459.
FT   VARIANT     227    227       I -> S (in EIEE6; borderline phenotype
FT                                with spike wave activity in some
FT                                patients; results in a non-functional
FT                                channel; dbSNP:rs121917937).
FT                                {ECO:0000269|PubMed:12821740,
FT                                ECO:0000269|PubMed:17054684,
FT                                ECO:0000269|PubMed:17054685,
FT                                ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:19589774,
FT                                ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_029666.
FT   VARIANT     227    227       I -> T (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073460.
FT   VARIANT     228    228       S -> P (in EIEE6).
FT                                {ECO:0000269|PubMed:27864847}.
FT                                /FTId=VAR_078192.
FT   VARIANT     232    232       G -> S (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073461.
FT   VARIANT     233    233       L -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073462.
FT   VARIANT     239    239       A -> T (in EIEE6; borderline phenotype
FT                                with spike wave activity in some
FT                                patients; dbSNP:rs121917985).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:20431604}.
FT                                /FTId=VAR_043352.
FT   VARIANT     239    239       A -> V (in EIEE6; dbSNP:rs121917909).
FT                                {ECO:0000269|PubMed:20729507}.
FT                                /FTId=VAR_064239.
FT   VARIANT     243    243       S -> Y (in EIEE6; dbSNP:rs794726755).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073463.
FT   VARIANT     252    252       I -> M (in ICEGTC).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073464.
FT   VARIANT     252    252       I -> N (in EIEE6; dbSNP:rs121918780).
FT                                {ECO:0000269|PubMed:15087100}.
FT                                /FTId=VAR_029667.
FT   VARIANT     254    254       T -> I (in GEFS+2).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073465.
FT   VARIANT     259    259       S -> R (in EIEE6; dbSNP:rs121918735).
FT                                {ECO:0000269|PubMed:20431604,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_064240.
FT   VARIANT     265    265       G -> W (in EIEE6; dbSNP:rs121918749).
FT                                {ECO:0000269|PubMed:12566275}.
FT                                /FTId=VAR_029668.
FT   VARIANT     277    277       C -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073466.
FT   VARIANT     280    280       W -> C (in EIEE6).
FT                                {ECO:0000269|PubMed:18639757}.
FT                                /FTId=VAR_073467.
FT   VARIANT     280    280       W -> R (in EIEE6; dbSNP:rs121917938).
FT                                {ECO:0000269|PubMed:12821740,
FT                                ECO:0000269|PubMed:17054684,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_029669.
FT   VARIANT     281    281       P -> A (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073468.
FT   VARIANT     281    281       P -> L (in EIEE6; dbSNP:rs796052964).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073469.
FT   VARIANT     281    281       P -> S (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073470.
FT   VARIANT     289    289       E -> V (in EIEE6).
FT                                {ECO:0000269|PubMed:22612257}.
FT                                /FTId=VAR_072743.
FT   VARIANT     290    290       H -> R (in ICEGTC).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073471.
FT   VARIANT     291    291       S -> G (in GEFS+2).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073472.
FT   VARIANT     297    297       T -> I (in EIEE6; dbSNP:rs121918771).
FT                                {ECO:0000269|PubMed:12821740}.
FT                                /FTId=VAR_029670.
FT   VARIANT     322    322       R -> I (in EIEE6; dbSNP:rs121917928).
FT                                {ECO:0000269|PubMed:17561957,
FT                                ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_064298.
FT   VARIANT     333    333       A -> V. {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073473.
FT   VARIANT     340    340       S -> F (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073474.
FT   VARIANT     342    342       A -> V (in EIEE6; dbSNP:rs794726797).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073475.
FT   VARIANT     343    343       G -> D (in EIEE6; dbSNP:rs121918753).
FT                                {ECO:0000269|PubMed:12566275,
FT                                ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_029671.
FT   VARIANT     345    345       C -> R (in EIEE6; dbSNP:rs794726782).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073476.
FT   VARIANT     351    351       C -> W (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073477.
FT   VARIANT     355    355       G -> D (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073478.
FT   VARIANT     356    356       R -> G (in EIEE6; dbSNP:rs121917920).
FT                                {ECO:0000269|PubMed:17561957}.
FT                                /FTId=VAR_064299.
FT   VARIANT     357    357       N -> I (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073479.
FT   VARIANT     358    358       P -> T (in EIEE6; dbSNP:rs121917923).
FT                                {ECO:0000269|PubMed:17561957}.
FT                                /FTId=VAR_064300.
FT   VARIANT     359    359       N -> S (in EIEE6 and ICEGTC;
FT                                dbSNP:rs794726713).
FT                                {ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23708187}.
FT                                /FTId=VAR_073480.
FT   VARIANT     363    363       T -> P (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073481.
FT   VARIANT     363    363       T -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073482.
FT   VARIANT     366    366       D -> E (in EIEE6; dbSNP:rs121917958).
FT                                {ECO:0000269|PubMed:18413471}.
FT                                /FTId=VAR_043353.
FT   VARIANT     377    377       R -> Q (in GEFS+2; dbSNP:rs121917957).
FT                                {ECO:0000269|PubMed:18413471}.
FT                                /FTId=VAR_043354.
FT   VARIANT     378    378       L -> Q (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073483.
FT   VARIANT     379    379       M -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:22612257}.
FT                                /FTId=VAR_072744.
FT   VARIANT     382    382       D -> N (probable disease-associated
FT                                mutation found in a patient with an
FT                                unclassified form of epilepsy).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073484.
FT   VARIANT     383    383       F -> L (in EIEE6; dbSNP:rs121917939).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064301.
FT   VARIANT     384    384       W -> R (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073485.
FT   VARIANT     388    388       Y -> H (in GEFS+2; dbSNP:rs121918781).
FT                                {ECO:0000269|PubMed:19464195}.
FT                                /FTId=VAR_064241.
FT   VARIANT     393    393       R -> C (in EIEE6; also in a patient with
FT                                myoclonic astatic epilepsy;
FT                                dbSNP:rs121917929).
FT                                {ECO:0000269|PubMed:17054684,
FT                                ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:17561957,
FT                                ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_043355.
FT   VARIANT     393    393       R -> H (in EIEE6 and ICEGTC; also in
FT                                patients with Dravet syndrome; results in
FT                                a non-functional channel;
FT                                dbSNP:rs121917927).
FT                                {ECO:0000269|PubMed:12754708,
FT                                ECO:0000269|PubMed:17054685,
FT                                ECO:0000269|PubMed:17561957,
FT                                ECO:0000269|PubMed:20431604,
FT                                ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:22612257,
FT                                ECO:0000269|PubMed:23195492,
FT                                ECO:0000269|PubMed:28544625}.
FT                                /FTId=VAR_029672.
FT   VARIANT     393    393       R -> S (in EIEE6; dbSNP:rs121917929).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064302.
FT   VARIANT     395    395       A -> P (probable disease-associated
FT                                mutation found in a patient with
FT                                cryptogenic generalized epilepsy;
FT                                dbSNP:rs121917988).
FT                                {ECO:0000269|PubMed:17347258}.
FT                                /FTId=VAR_043356.
FT   VARIANT     400    400       M -> V (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073486.
FT   VARIANT     400    400       Missing (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073487.
FT   VARIANT     403    403       F -> L (in EIEE6; dbSNP:rs121917966).
FT                                {ECO:0000269|PubMed:16713920,
FT                                ECO:0000269|PubMed:17347258}.
FT                                /FTId=VAR_064303.
FT   VARIANT     403    403       F -> V (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073488.
FT   VARIANT     406    406       V -> F (in EIEE6; dbSNP:rs121918768).
FT                                {ECO:0000269|PubMed:19589774,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_064242.
FT   VARIANT     409    409       L -> W (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073489.
FT   VARIANT     413    413       Y -> N (in EIEE6; dbSNP:rs121917967).
FT                                {ECO:0000269|PubMed:16713920,
FT                                ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:19589774}.
FT                                /FTId=VAR_064243.
FT   VARIANT     422    422       V -> E (probable disease-associated
FT                                mutation found in a patient with
FT                                cryptogenic generalized epilepsy;
FT                                dbSNP:rs121917989).
FT                                {ECO:0000269|PubMed:17347258}.
FT                                /FTId=VAR_043357.
FT   VARIANT     426    426       Y -> C (in EIEE6; dbSNP:rs796052973).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073490.
FT   VARIANT     426    426       Y -> N (in EIEE6; results in decreased
FT                                peak current densities; causes a negative
FT                                shift in the half-maximal steady-state
FT                                inactivation and delayed recovery from
FT                                fast inactivation; dbSNP:rs121917940).
FT                                {ECO:0000269|PubMed:12821740,
FT                                ECO:0000269|PubMed:17054684,
FT                                ECO:0000269|PubMed:17054685}.
FT                                /FTId=VAR_029673.
FT   VARIANT     450   2009       Missing (in EIEE6).
FT                                {ECO:0000269|PubMed:25818041}.
FT                                /FTId=VAR_078726.
FT   VARIANT     525    525       S -> F (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073491.
FT   VARIANT     542    542       R -> Q (found in a patient with
FT                                intractable epilepsy and in a patient
FT                                with generalized epilepsy with febril
FT                                seizures; also found in patients with
FT                                autism; unknown pathological
FT                                significance; dbSNP:rs121918817).
FT                                {ECO:0000269|PubMed:12610651,
FT                                ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:19522081,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_029674.
FT   VARIANT     604    604       R -> H (rare variant; found in patients
FT                                with early infantile epileptic
FT                                encephalopathy and in patients with
FT                                intractable epilepsy; unknown
FT                                pathological significance;
FT                                dbSNP:rs121918769).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:19589774,
FT                                ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_064244.
FT   VARIANT     616    616       E -> D (probable disease-associated
FT                                mutation found in a patient with drug-
FT                                resistant epilepsy and mild cognitive
FT                                impairment).
FT                                {ECO:0000269|PubMed:27864847}.
FT                                /FTId=VAR_078193.
FT   VARIANT     626    626       S -> G (in EIEE6; also found in a patient
FT                                with cryptogenic generalized epilepsy;
FT                                dbSNP:rs121917990).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_043358.
FT   VARIANT     674    674       D -> G (in EIEE6).
FT                                {ECO:0000269|PubMed:17347258}.
FT                                /FTId=VAR_073492.
FT   VARIANT     699    699       V -> I. {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073493.
FT   VARIANT     762    762       N -> D (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073494.
FT   VARIANT     783    783       L -> P (in EIEE6; dbSNP:rs121917968).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:19589774}.
FT                                /FTId=VAR_064245.
FT   VARIANT     785    785       M -> T (in EIEE6; dbSNP:rs796053095).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073495.
FT   VARIANT     790    790       Y -> C (in GEFS+2; dbSNP:rs121918782).
FT                                {ECO:0000269|PubMed:12919402}.
FT                                /FTId=VAR_029675.
FT   VARIANT     790    790       Y -> F (probable disease-associated
FT                                mutation found in patients with
FT                                Panayiotopoulos syndrome;
FT                                dbSNP:rs121918782).
FT                                {ECO:0000269|PubMed:17679682,
FT                                ECO:0000269|PubMed:19522081}.
FT                                /FTId=VAR_073496.
FT   VARIANT     808    808       T -> S (in ICEGTC; results in increased
FT                                peak current density and delayed slow
FT                                inactivation onset; recovery from slow
FT                                inactivation is delayed;
FT                                dbSNP:rs121918758).
FT                                {ECO:0000269|PubMed:12566275,
FT                                ECO:0000269|PubMed:16210358}.
FT                                /FTId=VAR_029676.
FT   VARIANT     812    812       T -> I (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073497.
FT   VARIANT     812    812       T -> R (in EIEE6; dbSNP:rs121917941).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064304.
FT   VARIANT     842    842       L -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073498.
FT   VARIANT     843    843       S -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073499.
FT   VARIANT     846    846       E -> K (in EIEE6; dbSNP:rs121917942).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064305.
FT   VARIANT     854    855       Missing (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073500.
FT   VARIANT     859    859       R -> C (in GEFS+2 and EIEE6; causes a
FT                                positive shift in the voltage dependence
FT                                of channel activation, slower recovery
FT                                from slow inactivation and lower levels
FT                                of current compared with the wild-type
FT                                channel; dbSNP:rs121918784).
FT                                {ECO:0000269|PubMed:16525050,
FT                                ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_064306.
FT   VARIANT     859    859       R -> H (in GEFS+2; results in impaired
FT                                channel fast inactivation and
FT                                significantly increased persistent
FT                                current; dbSNP:rs398123588).
FT                                {ECO:0000269|PubMed:21864321}.
FT                                /FTId=VAR_073501.
FT   VARIANT     862    862       R -> Q (in EIEE6; dbSNP:rs121918785).
FT                                {ECO:0000269|PubMed:20110217,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_064246.
FT   VARIANT     865    865       R -> G (in EIEE6; results in impaired
FT                                channel fast inactivation and
FT                                significantly increased persistent
FT                                current). {ECO:0000269|PubMed:21864321}.
FT                                /FTId=VAR_073502.
FT   VARIANT     875    875       T -> K (in EIEE6; dbSNP:rs121918623).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:20522430}.
FT                                /FTId=VAR_064247.
FT   VARIANT     875    875       T -> M (in GEFS+2 and EIEE6; borderline
FT                                phenotype; dbSNP:rs121918623).
FT                                {ECO:0000269|PubMed:10742094,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_010110.
FT   VARIANT     876    876       L -> I (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073503.
FT   VARIANT     890    890       L -> P (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073504.
FT   VARIANT     896    896       V -> F (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073505.
FT   VARIANT     896    896       V -> I (in ICEGTC; dbSNP:rs745378416).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073506.
FT   VARIANT     896    896       V -> L (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073507.
FT   VARIANT     899    899       I -> T (in GEFS+2).
FT                                {ECO:0000269|PubMed:19522081}.
FT                                /FTId=VAR_073508.
FT   VARIANT     902    902       F -> C (in EIEE6; dbSNP:rs121918787).
FT                                {ECO:0000269|PubMed:12083760}.
FT                                /FTId=VAR_029677.
FT   VARIANT     924    924       A -> T (in dbSNP:rs141950573).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073509.
FT   VARIANT     927    927       C -> F (in EIEE6; dbSNP:rs794726811).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073510.
FT   VARIANT     931    931       R -> C (in EIEE6; dbSNP:rs121918788).
FT                                {ECO:0000269|PubMed:12083760,
FT                                ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_029678.
FT   VARIANT     931    931       R -> H (probable disease-associated
FT                                mutation found in a patient with an
FT                                unclassified form of epilepsy;
FT                                dbSNP:rs794726718).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073511.
FT   VARIANT     932    932       W -> C (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073512.
FT   VARIANT     933    933       H -> P (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073513.
FT   VARIANT     934    934       M -> I (in EIEE6; dbSNP:rs121918774).
FT                                {ECO:0000269|PubMed:14738421,
FT                                ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_029679.
FT   VARIANT     935    935       N -> H (in GEFS+2).
FT                                {ECO:0000269|PubMed:18566737}.
FT                                /FTId=VAR_073514.
FT   VARIANT     939    939       H -> P (in EIEE6; unknown pathological
FT                                significance).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073515.
FT   VARIANT     939    939       H -> Q (in EIEE6; results in a non-
FT                                functional channel; dbSNP:rs121918795).
FT                                {ECO:0000269|PubMed:12754708,
FT                                ECO:0000269|PubMed:17054685}.
FT                                /FTId=VAR_029680.
FT   VARIANT     939    939       H -> Y (in EIEE6; dbSNP:rs121918736).
FT                                {ECO:0000269|PubMed:20431604}.
FT                                /FTId=VAR_064248.
FT   VARIANT     940    940       S -> F (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073516.
FT   VARIANT     942    942       L -> P (in EIEE6; dbSNP:rs121917943).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064307.
FT   VARIANT     943    943       I -> N (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073517.
FT   VARIANT     944    944       V -> A (in EIEE6 and ICEGTC;
FT                                dbSNP:rs121917969).
FT                                {ECO:0000269|PubMed:14738421,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_029681.
FT   VARIANT     944    944       V -> E (in EIEE6).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:19589774}.
FT                                /FTId=VAR_064249.
FT   VARIANT     945    945       F -> L (in EIEE6; dbSNP:rs121917970).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:19589774}.
FT                                /FTId=VAR_064250.
FT   VARIANT     946    946       R -> C (in EIEE6; loss-of-function
FT                                mutation resulting in complete absence of
FT                                sodium current; dbSNP:rs121918775).
FT                                {ECO:0000269|PubMed:14738421,
FT                                ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:21864321,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_029682.
FT   VARIANT     946    946       R -> H (in EIEE6 and GEFS+2; GEFS+2
FT                                phenotype consists of partial epilepsy
FT                                with antecedent febrile seizures and
FT                                seizure aggravation by antiepileptic
FT                                drugs; loss-of-function mutation
FT                                resulting in complete absence of sodium
FT                                current; dbSNP:rs121917971).
FT                                {ECO:0000269|PubMed:14738421,
FT                                ECO:0000269|PubMed:16713920,
FT                                ECO:0000269|PubMed:19589774,
FT                                ECO:0000269|PubMed:20550552,
FT                                ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:21864321,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_029683.
FT   VARIANT     946    946       R -> S (in EIEE6; dbSNP:rs121918775).
FT                                {ECO:0000269|PubMed:15944908}.
FT                                /FTId=VAR_057995.
FT   VARIANT     949    949       C -> S (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073518.
FT   VARIANT     949    949       C -> Y (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073519.
FT   VARIANT     950    950       G -> E (in EIEE6; dbSNP:rs121917972).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:19589774}.
FT                                /FTId=VAR_064251.
FT   VARIANT     950    950       G -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073520.
FT   VARIANT     952    952       W -> G (in EIEE6; dbSNP:rs121918737).
FT                                {ECO:0000269|PubMed:20431604}.
FT                                /FTId=VAR_064252.
FT   VARIANT     954    954       E -> K (in EIEE6; dbSNP:rs121918786).
FT                                {ECO:0000269|PubMed:20110217,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_064253.
FT   VARIANT     956    956       M -> K (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073521.
FT   VARIANT     957    957       W -> L (in EIEE6; dbSNP:rs121917917).
FT                                {ECO:0000269|PubMed:17561957,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_064308.
FT   VARIANT     959    959       C -> R (in EIEE6; results in a non-
FT                                functional channel; dbSNP:rs121918796).
FT                                {ECO:0000269|PubMed:12754708,
FT                                ECO:0000269|PubMed:17054685}.
FT                                /FTId=VAR_029684.
FT   VARIANT     960    960       M -> T (in GEFS+2).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073522.
FT   VARIANT     960    960       M -> V (in EIEE6; dbSNP:rs121918750).
FT                                {ECO:0000269|PubMed:12566275}.
FT                                /FTId=VAR_029685.
FT   VARIANT     973    973       M -> K (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073523.
FT   VARIANT     973    973       M -> V (in GEFS+2; dbSNP:rs121917991).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_043359.
FT   VARIANT     976    976       M -> I (in EIEE6 and GEFS+2).
FT                                {ECO:0000269|PubMed:19522081,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073524.
FT   VARIANT     978    978       I -> M (in GEFS+2; unknown pathological
FT                                significance).
FT                                {ECO:0000269|PubMed:17927801}.
FT                                /FTId=VAR_073525.
FT   VARIANT     979    979       G -> R (in ICEGTC; loss-of-function
FT                                mutation resulting in absence of sodium
FT                                current; dbSNP:rs121918754).
FT                                {ECO:0000269|PubMed:12566275,
FT                                ECO:0000269|PubMed:16210358}.
FT                                /FTId=VAR_029686.
FT   VARIANT     979    979       G -> V (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073526.
FT   VARIANT     982    982       V -> L (found in a patient with acute
FT                                encephalopathy with biphasic seizures and
FT                                late reduced diffusion; unknown
FT                                pathological significance).
FT                                {ECO:0000269|PubMed:22309220,
FT                                ECO:0000269|PubMed:26311622}.
FT                                /FTId=VAR_075569.
FT   VARIANT     983    983       V -> A (in ICEGTC; reduced function;
FT                                decreased peak current density; results
FT                                in a negative shift of inactivation and
FT                                positive shift of activation;
FT                                dbSNP:rs121918756).
FT                                {ECO:0000269|PubMed:12566275,
FT                                ECO:0000269|PubMed:16210358}.
FT                                /FTId=VAR_029687.
FT   VARIANT     985    985       N -> I (in EIEE6; dbSNP:rs121918747).
FT                                {ECO:0000269|PubMed:12566275}.
FT                                /FTId=VAR_029688.
FT   VARIANT     986    986       L -> F (in EIEE6; complete loss of
FT                                function; dbSNP:rs121918625).
FT                                {ECO:0000269|PubMed:11359211,
FT                                ECO:0000269|PubMed:14672992}.
FT                                /FTId=VAR_014268.
FT   VARIANT     986    986       L -> P (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073527.
FT   VARIANT     987    987       F -> L (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073528.
FT   VARIANT     993    993       S -> R (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073529.
FT   VARIANT     998    998       D -> G (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073530.
FT   VARIANT     999   1000       NL -> LIS (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073531.
FT   VARIANT    1006   1006       D -> E (probable disease-associated
FT                                mutation found in a patient with an
FT                                unclassified form of epilepsy;
FT                                dbSNP:rs375909896).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073532.
FT   VARIANT    1011   1011       N -> I (in ICEGTC; results in reduced
FT                                peak current density and hyperpolarizing
FT                                shift in inactivation;
FT                                dbSNP:rs121918759).
FT                                {ECO:0000269|PubMed:12566275,
FT                                ECO:0000269|PubMed:16210358}.
FT                                /FTId=VAR_029689.
FT   VARIANT    1034   1034       I -> T (associated with autism;
FT                                dbSNP:rs121918818).
FT                                {ECO:0000269|PubMed:12610651}.
FT                                /FTId=VAR_029690.
FT   VARIANT    1038   1038       F -> L (associated with autism).
FT                                {ECO:0000269|PubMed:12610651}.
FT                                /FTId=VAR_029691.
FT   VARIANT    1067   1067       A -> T (in dbSNP:rs2298771).
FT                                {ECO:0000269|PubMed:11254444,
FT                                ECO:0000269|PubMed:12083760,
FT                                ECO:0000269|PubMed:12566275,
FT                                ECO:0000269|PubMed:12610651,
FT                                ECO:0000269|PubMed:16122630,
FT                                ECO:0000269|PubMed:19694741,
FT                                ECO:0000269|PubMed:20682179,
FT                                ECO:0000269|Ref.4}.
FT                                /FTId=VAR_014269.
FT   VARIANT    1068   1068       E -> K (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073533.
FT   VARIANT    1079   1079       V -> I. {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073534.
FT   VARIANT    1109   1109       P -> T (in dbSNP:rs753452775).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073535.
FT   VARIANT    1174   1174       T -> S (in FHM3; dbSNP:rs121918799).
FT                                {ECO:0000269|PubMed:18021921}.
FT                                /FTId=VAR_064309.
FT   VARIANT    1204   1204       W -> R (in GEFS+2; causes hyperpolarized
FT                                shifts in the voltage dependence of
FT                                activation and steady-state inactivation;
FT                                dbSNP:rs121917930).
FT                                {ECO:0000269|PubMed:11254445,
FT                                ECO:0000269|PubMed:12535936,
FT                                ECO:0000269|PubMed:17561957}.
FT                                /FTId=VAR_014270.
FT   VARIANT    1204   1204       W -> S (in GEFS+2).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073536.
FT   VARIANT    1207   1207       L -> P (in EIEE6; dbSNP:rs121917963).
FT                                {ECO:0000269|PubMed:18413471}.
FT                                /FTId=VAR_043360.
FT   VARIANT    1208   1208       R -> K (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073537.
FT   VARIANT    1210   1210       T -> K (in EIEE6; dbSNP:rs121918738).
FT                                {ECO:0000269|PubMed:20431604}.
FT                                /FTId=VAR_064254.
FT   VARIANT    1213   1213       R -> Q (in ICEGTC; dbSNP:rs566081370).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073538.
FT   VARIANT    1221   1221       E -> K (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073539.
FT   VARIANT    1230   1230       L -> F (in EIEE6 and GEFS+2).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073540.
FT   VARIANT    1231   1231       S -> R (in EIEE6; dbSNP:rs121918746).
FT                                {ECO:0000269|PubMed:12566275}.
FT                                /FTId=VAR_029692.
FT   VARIANT    1231   1231       S -> T (in EIEE6; dbSNP:rs121918800).
FT                                {ECO:0000269|PubMed:16458823}.
FT                                /FTId=VAR_064310.
FT   VARIANT    1233   1233       G -> R (in EIEE6; dbSNP:rs121917911).
FT                                {ECO:0000269|PubMed:12821740,
FT                                ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_029693.
FT   VARIANT    1238   1238       E -> D (in EIEE6; dbSNP:rs121917973).
FT                                {ECO:0000269|PubMed:16713920,
FT                                ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23662938}.
FT                                /FTId=VAR_043361.
FT   VARIANT    1239   1239       D -> G (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073541.
FT   VARIANT    1239   1239       D -> Y (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073542.
FT   VARIANT    1245   1245       R -> Q (in EIEE6; dbSNP:rs121917912).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064311.
FT   VARIANT    1249   1249       K -> N (in GEFS+2).
FT                                {ECO:0000269|PubMed:19522081}.
FT                                /FTId=VAR_073543.
FT   VARIANT    1250   1250       T -> M (in GEFS+2; dbSNP:rs140731963).
FT                                {ECO:0000269|PubMed:19522081}.
FT                                /FTId=VAR_073544.
FT   VARIANT    1254   1254       Y -> C (in ICEGTC).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073545.
FT   VARIANT    1255   1255       A -> D (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073546.
FT   VARIANT    1260   1260       T -> P (in EIEE6; dbSNP:rs121918739).
FT                                {ECO:0000269|PubMed:20431604}.
FT                                /FTId=VAR_064255.
FT   VARIANT    1263   1263       F -> L (in EIEE6; dbSNP:rs121918752).
FT                                {ECO:0000269|PubMed:12566275}.
FT                                /FTId=VAR_029694.
FT   VARIANT    1265   1265       L -> P (in EIEE6; dbSNP:rs121918794).
FT                                {ECO:0000269|PubMed:12083760}.
FT                                /FTId=VAR_029695.
FT   VARIANT    1266   1266       E -> A (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073547.
FT   VARIANT    1270   1270       K -> T (in GEFS+2; dbSNP:rs121918626).
FT                                {ECO:0000269|PubMed:11756608}.
FT                                /FTId=VAR_014271.
FT   VARIANT    1275   1275       G -> A (found in a child with sporadic
FT                                epilepsy; unknown pathological
FT                                significance).
FT                                {ECO:0000269|PubMed:23647072}.
FT                                /FTId=VAR_077831.
FT   VARIANT    1275   1275       G -> V (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073548.
FT   VARIANT    1284   2009       Missing (in EIEE6).
FT                                {ECO:0000269|PubMed:26993267}.
FT                                /FTId=VAR_078727.
FT   VARIANT    1284   1284       W -> S (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073549.
FT   VARIANT    1287   1287       L -> P (in EIEE6; dbSNP:rs121918740).
FT                                {ECO:0000269|PubMed:20431604}.
FT                                /FTId=VAR_064256.
FT   VARIANT    1288   1288       D -> N (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073550.
FT   VARIANT    1289   1289       Missing (in EIEE6; results in a non-
FT                                functional channel).
FT                                {ECO:0000269|PubMed:12083760,
FT                                ECO:0000269|PubMed:17054685,
FT                                ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_029696.
FT   VARIANT    1308   1308       E -> D (in FEB3A; also found in patients
FT                                with early infantile epileptic
FT                                encephalopathy; unknown pathological
FT                                significance; dbSNP:rs121917910).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:19522081,
FT                                ECO:0000269|PubMed:20729507,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_064257.
FT   VARIANT    1309   1309       L -> F (in GEFS+2; dbSNP:rs121918801).
FT                                {ECO:0000269|PubMed:20117752}.
FT                                /FTId=VAR_064258.
FT   VARIANT    1316   1316       R -> G (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073551.
FT   VARIANT    1316   1316       R -> S (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073552.
FT   VARIANT    1320   1320       A -> V (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073553.
FT   VARIANT    1325   1325       R -> T (in ICEGTC).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073554.
FT   VARIANT    1326   1326       A -> D (probable disease-associated
FT                                mutation found in a patient with an
FT                                unclassified form of epilepsy).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073555.
FT   VARIANT    1326   1326       A -> P (in EIEE6; dbSNP:rs121918803).
FT                                {ECO:0000269|PubMed:14504318,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_029698.
FT   VARIANT    1328   1328       S -> P (in ICEGTC and EIEE6).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073556.
FT   VARIANT    1335   1335       V -> M (in EIEE6; dbSNP:rs121917960).
FT                                {ECO:0000269|PubMed:18413471,
FT                                ECO:0000269|PubMed:20431604}.
FT                                /FTId=VAR_043362.
FT   VARIANT    1339   1339       A -> V (in EIEE6; dbSNP:rs794726789).
FT                                {ECO:0000269|PubMed:22092154,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073557.
FT   VARIANT    1344   1344       I -> M (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073558.
FT   VARIANT    1345   1345       P -> L (in EIEE6).
FT                                {ECO:0000269|PubMed:26993267}.
FT                                /FTId=VAR_078728.
FT   VARIANT    1350   1350       V -> G (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073559.
FT   VARIANT    1353   1353       V -> L (in GEFS+2; complete loss of
FT                                function; dbSNP:rs121917954).
FT                                {ECO:0000269|PubMed:11254444,
FT                                ECO:0000269|PubMed:14672992}.
FT                                /FTId=VAR_014272.
FT   VARIANT    1355   1355       L -> P (in EIEE6; dbSNP:rs121918776).
FT                                {ECO:0000269|PubMed:14738421,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_029697.
FT   VARIANT    1357   1357       F -> L (in ICEGTC).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073560.
FT   VARIANT    1358   1358       W -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073561.
FT   VARIANT    1358   1358       W -> S (in EIEE6; dbSNP:rs121917961).
FT                                {ECO:0000269|PubMed:18413471}.
FT                                /FTId=VAR_043363.
FT   VARIANT    1366   1366       V -> I (in GEFS+2 and ICEGTC;
FT                                dbSNP:rs121918805).
FT                                {ECO:0000269|PubMed:17507202}.
FT                                /FTId=VAR_043364.
FT   VARIANT    1367   1367       N -> K (in EIEE6; dbSNP:rs121918760).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:20522430}.
FT                                /FTId=VAR_064259.
FT   VARIANT    1370   1370       A -> P (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073562.
FT   VARIANT    1376   1376       C -> R (in ICEGTC).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073563.
FT   VARIANT    1378   1378       N -> H (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073564.
FT   VARIANT    1378   1378       N -> T (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073565.
FT   VARIANT    1385   1385       F -> V (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073566.
FT   VARIANT    1390   1390       V -> M (in EIEE6; some patients have a
FT                                borderline EIEE6 phenotype;
FT                                dbSNP:rs121917986).
FT                                {ECO:0000269|PubMed:12083760,
FT                                ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:20431604}.
FT                                /FTId=VAR_029699.
FT   VARIANT    1391   1391       N -> S (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073567.
FT   VARIANT    1393   1393       H -> P (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:17129991}.
FT                                /FTId=VAR_073568.
FT   VARIANT    1394   1394       T -> I (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073569.
FT   VARIANT    1396   1396       C -> G (in EIEE6; some patients have a
FT                                borderline EIEE6 phenotype;
FT                                dbSNP:rs121917987).
FT                                {ECO:0000269|PubMed:16713920,
FT                                ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:19589774}.
FT                                /FTId=VAR_064260.
FT   VARIANT    1396   1396       C -> Y (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073570.
FT   VARIANT    1414   1414       N -> D (in GEFS+2).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073571.
FT   VARIANT    1414   1414       N -> Y (in EIEE6; dbSNP:rs121917925).
FT                                {ECO:0000269|PubMed:17561957}.
FT                                /FTId=VAR_064312.
FT   VARIANT    1416   1416       D -> G (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073572.
FT   VARIANT    1417   1417       N -> S (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073573.
FT   VARIANT    1418   1418       V -> G (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073574.
FT   VARIANT    1422   1422       Y -> C (in EIEE6; dbSNP:rs121917913).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064313.
FT   VARIANT    1423   1423       L -> F (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073575.
FT   VARIANT    1426   1426       L -> R (in EIEE6; dbSNP:rs121917944).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064314.
FT   VARIANT    1427   1427       Q -> P (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073576.
FT   VARIANT    1428   1428       V -> A (in GEFS+2; dbSNP:rs121918627).
FT                                {ECO:0000269|PubMed:11524484}.
FT                                /FTId=VAR_029700.
FT   VARIANT    1429   1429       A -> D (in ICEGTC).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073577.
FT   VARIANT    1429   1429       Missing (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073578.
FT   VARIANT    1431   1431       F -> I (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073579.
FT   VARIANT    1433   1433       G -> E (in EIEE6; dbSNP:rs121918741).
FT                                {ECO:0000269|PubMed:20431604}.
FT                                /FTId=VAR_064261.
FT   VARIANT    1433   1433       G -> R (in EIEE6; dbSNP:rs121917908).
FT                                {ECO:0000269|PubMed:20729507}.
FT                                /FTId=VAR_064262.
FT   VARIANT    1433   1433       G -> V (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073580.
FT   VARIANT    1434   1434       W -> R (in EIEE6; dbSNP:rs121918789).
FT                                {ECO:0000269|PubMed:12083760,
FT                                ECO:0000269|PubMed:12754708}.
FT                                /FTId=VAR_029701.
FT   VARIANT    1437   1437       I -> M (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073581.
FT   VARIANT    1440   1440       A -> V (found in a patient with autism;
FT                                unknown pathological significance).
FT                                {ECO:0000269|PubMed:26637798}.
FT                                /FTId=VAR_078729.
FT   VARIANT    1441   1441       A -> P (in EIEE6; dbSNP:rs121917974).
FT                                {ECO:0000269|PubMed:17347258}.
FT                                /FTId=VAR_064348.
FT   VARIANT    1450   1450       Q -> K (in EIEE6; dbSNP:rs121918806).
FT                                {ECO:0000269|PubMed:19589774,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_064263.
FT   VARIANT    1450   1450       Q -> R (in EIEE6; dbSNP:rs121918790).
FT                                {ECO:0000269|PubMed:12083760}.
FT                                /FTId=VAR_029702.
FT   VARIANT    1451   1451       P -> L (in EIEE6; dbSNP:rs121917945).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064315.
FT   VARIANT    1451   1451       P -> S (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073582.
FT   VARIANT    1453   1453       Y -> C (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073583.
FT   VARIANT    1454   1454       E -> K (in EIEE6; dbSNP:rs796053012).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073584.
FT   VARIANT    1461   1461       L -> I (in EIEE6; dbSNP:rs121918772).
FT                                {ECO:0000269|PubMed:12821740}.
FT                                /FTId=VAR_029703.
FT   VARIANT    1462   1462       Y -> C (in EIEE6; dbSNP:rs121917962).
FT                                {ECO:0000269|PubMed:18413471}.
FT                                /FTId=VAR_043365.
FT   VARIANT    1462   1462       Y -> H (in EIEE6 and ICEGTC; borderline
FT                                EIEE6 phenotype).
FT                                {ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073585.
FT   VARIANT    1463   1463       F -> S (in EIEE6; dbSNP:rs121917946).
FT                                {ECO:0000269|PubMed:12821740,
FT                                ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_029704.
FT   VARIANT    1470   1470       G -> W (in EIEE6; dbSNP:rs121917924).
FT                                {ECO:0000269|PubMed:17561957}.
FT                                /FTId=VAR_064316.
FT   VARIANT    1472   1472       F -> S (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073586.
FT   VARIANT    1473   1473       Missing (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073587.
FT   VARIANT    1475   1475       L -> S (in EIEE6; dbSNP:rs121917947).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064317.
FT   VARIANT    1476   1476       N -> K (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073588.
FT   VARIANT    1480   1480       G -> V (probable disease-associated
FT                                mutation found in a patient with
FT                                myoclonic astatic epilepsy;
FT                                dbSNP:rs121917996).
FT                                {ECO:0000269|PubMed:17347258}.
FT                                /FTId=VAR_043366.
FT   VARIANT    1483   1483       I -> M (probable disease-associated
FT                                mutation found in a patient with an
FT                                unclassified form of epilepsy).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073589.
FT   VARIANT    1483   1483       Missing (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073590.
FT   VARIANT    1484   1484       D -> G (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073591.
FT   VARIANT    1485   1485       N -> Y (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073592.
FT   VARIANT    1489   1489       Q -> H (in FHM3; dbSNP:rs121918633).
FT                                {ECO:0000269|PubMed:19332696}.
FT                                /FTId=VAR_057996.
FT   VARIANT    1489   1489       Q -> K (in FHM3; dbSNP:rs121918628).
FT                                {ECO:0000269|PubMed:16054936}.
FT                                /FTId=VAR_025281.
FT   VARIANT    1499   1499       F -> L (in FHM3; dbSNP:rs121918632).
FT                                {ECO:0000269|PubMed:19332696}.
FT                                /FTId=VAR_057997.
FT   VARIANT    1503   1503       E -> K (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:19783390,
FT                                ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073593.
FT   VARIANT    1503   1503       Missing (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073594.
FT   VARIANT    1511   1511       M -> K (in ICEGTC).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073595.
FT   VARIANT    1514   1514       L -> S (in EIEE6; dbSNP:rs121918764).
FT                                {ECO:0000269|PubMed:20522430}.
FT                                /FTId=VAR_064264.
FT   VARIANT    1538   1538       V -> I (in EIEE6; dbSNP:rs780360360).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073596.
FT   VARIANT    1543   1543       F -> S (in a patient with cryptogenic
FT                                focal epilepsy; dbSNP:rs121917992).
FT                                {ECO:0000269|PubMed:17347258}.
FT                                /FTId=VAR_043367.
FT   VARIANT    1544   1544       D -> A (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073597.
FT   VARIANT    1544   1544       D -> G (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073598.
FT   VARIANT    1545   1545       I -> V (in EIEE6; dbSNP:rs121917975).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:19589774,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_064265.
FT   VARIANT    1555   1555       M -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073599.
FT   VARIANT    1559   1559       Missing (in EIEE6).
FT                                {ECO:0000269|PubMed:14738421}.
FT                                /FTId=VAR_029705.
FT   VARIANT    1561   1561       E -> K (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073600.
FT   VARIANT    1575   1575       R -> C (found in a patient with
FT                                intractable epilepsy and patients with
FT                                Dravet syndrome; found in a patient with
FT                                acute necrotizing encephalopathy and also
FT                                found in a patient with acute
FT                                encephalopathy with biphasic seizures and
FT                                late reduced diffusion; unknown
FT                                pathological significance;
FT                                dbSNP:rs121918807).
FT                                {ECO:0000269|PubMed:18031552,
FT                                ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:22309220,
FT                                ECO:0000269|PubMed:23195492,
FT                                ECO:0000269|PubMed:26311622}.
FT                                /FTId=VAR_064318.
FT   VARIANT    1579   1579       V -> E (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073601.
FT   VARIANT    1586   1586       G -> E (in EIEE6; dbSNP:rs121918742).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:20431604,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_064266.
FT   VARIANT    1588   1588       C -> R (in EIEE6; dbSNP:rs121917919).
FT                                {ECO:0000269|PubMed:17561957,
FT                                ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:25818041}.
FT                                /FTId=VAR_064319.
FT   VARIANT    1592   1592       L -> H (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073602.
FT   VARIANT    1592   1592       L -> P (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073603.
FT   VARIANT    1596   1596       R -> C (in EIEE6; also found in a patient
FT                                with cryptogenic focal epilepsy;
FT                                dbSNP:rs121917993).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_043368.
FT   VARIANT    1596   1596       R -> H (in GEFS+2; dbSNP:rs575368466).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073604.
FT   VARIANT    1596   1596       R -> L (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073605.
FT   VARIANT    1605   1605       N -> I (in EIEE6).
FT                                {ECO:0000269|PubMed:27864847}.
FT                                /FTId=VAR_078194.
FT   VARIANT    1605   1605       N -> S (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073606.
FT   VARIANT    1608   1608       D -> G (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073607.
FT   VARIANT    1608   1608       D -> Y (in EIEE6; dbSNP:rs121917915).
FT                                {ECO:0000269|PubMed:17561957}.
FT                                /FTId=VAR_064320.
FT   VARIANT    1611   1611       V -> F (in ICEGTC; results in greater
FT                                levels of persistent non-inactivating
FT                                current compared to wild-type;
FT                                dbSNP:rs121918630).
FT                                {ECO:0000269|PubMed:12566275,
FT                                ECO:0000269|PubMed:16210358}.
FT                                /FTId=VAR_029706.
FT   VARIANT    1612   1612       V -> I (in EIEE6; dbSNP:rs121918808).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:19563458,
FT                                ECO:0000269|PubMed:20452746}.
FT                                /FTId=VAR_064267.
FT   VARIANT    1619   1619       M -> V (in ICEGTC; dbSNP:rs373967247).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073608.
FT   VARIANT    1630   1630       V -> L (in EIEE6; borderline phenotype in
FT                                some patients).
FT                                {ECO:0000269|PubMed:22092154,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073609.
FT   VARIANT    1630   1630       V -> M (in EIEE6; dbSNP:rs121917914).
FT                                {ECO:0000269|PubMed:17561957}.
FT                                /FTId=VAR_064321.
FT   VARIANT    1632   1632       P -> S (in ICEGTC; results in greater
FT                                levels of persistent non-inactivating
FT                                current compared to wild-type;
FT                                dbSNP:rs121918755).
FT                                {ECO:0000269|PubMed:12566275,
FT                                ECO:0000269|PubMed:16210358}.
FT                                /FTId=VAR_029707.
FT   VARIANT    1636   1636       R -> Q (probable disease-associated
FT                                mutation found in a patient with Lennon-
FT                                Gastaut syndrome; dbSNP:rs121917995).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:19589774}.
FT                                /FTId=VAR_043369.
FT   VARIANT    1637   1637       V -> E (in EIEE6; also found in a child
FT                                with febrile status epilepticus who
FT                                developed liver failure;
FT                                dbSNP:rs121918810).
FT                                {ECO:0000269|PubMed:20392657,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_064268.
FT   VARIANT    1638   1638       I -> N (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073610.
FT   VARIANT    1638   1638       I -> T (in EIEE6; also found in a patient
FT                                with an unclassified form of epilepsy).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073611.
FT   VARIANT    1639   1639       R -> G (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073612.
FT   VARIANT    1642   1642       R -> S (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073613.
FT   VARIANT    1645   1645       R -> Q (in EIEE6; dbSNP:rs121917976).
FT                                {ECO:0000269|PubMed:16713920,
FT                                ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:19589774}.
FT                                /FTId=VAR_064269.
FT   VARIANT    1648   1648       R -> C (in EIEE6; dbSNP:rs121918791).
FT                                {ECO:0000269|PubMed:12083760,
FT                                ECO:0000269|PubMed:19522081,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_029708.
FT   VARIANT    1648   1648       R -> H (in GEFS+2 and EIEE6;
FT                                dbSNP:rs121918622).
FT                                {ECO:0000269|PubMed:10742094,
FT                                ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:20522430}.
FT                                /FTId=VAR_010111.
FT   VARIANT    1649   1649       L -> Q (in FHM3).
FT                                {ECO:0000269|PubMed:17397047}.
FT                                /FTId=VAR_064322.
FT   VARIANT    1653   1653       A -> E (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073614.
FT   VARIANT    1656   1656       I -> M (in GEFS+2; exhibits a
FT                                depolarizing shift in the voltage
FT                                dependence of activation;
FT                                dbSNP:rs121917955).
FT                                {ECO:0000269|PubMed:11254444,
FT                                ECO:0000269|PubMed:14672992}.
FT                                /FTId=VAR_014273.
FT   VARIANT    1657   1657       R -> C (in GEFS+2; exhibits a
FT                                depolarizing shift in the voltage
FT                                dependence of activation; shows a 50%
FT                                reduction in current density and
FT                                accelerates recovery from slow
FT                                inactivation; dbSNP:rs121918811).
FT                                {ECO:0000269|PubMed:14672992}.
FT                                /FTId=VAR_029709.
FT   VARIANT    1657   1657       R -> H (probable disease-associated
FT                                mutation found in a patient with
FT                                cryptogenic focal epilepsy;
FT                                dbSNP:rs121917994).
FT                                {ECO:0000269|PubMed:17347258,
FT                                ECO:0000269|PubMed:19589774}.
FT                                /FTId=VAR_043370.
FT   VARIANT    1658   1658       T -> M (in EIEE6; dbSNP:rs121917922).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:20522430}.
FT                                /FTId=VAR_064270.
FT   VARIANT    1658   1658       T -> R (in EIEE6; dbSNP:rs121917922).
FT                                {ECO:0000269|PubMed:17561957,
FT                                ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_064323.
FT   VARIANT    1660   1660       L -> P (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073615.
FT   VARIANT    1661   1661       F -> S (in EIEE6; dbSNP:rs121918797).
FT                                {ECO:0000269|PubMed:12754708}.
FT                                /FTId=VAR_029710.
FT   VARIANT    1662   1662       A -> V (in EIEE6; borderline phenotype;
FT                                dbSNP:rs794726839).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073616.
FT   VARIANT    1664   1664       M -> K (in EIEE6; dbSNP:rs121918765).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:20522430}.
FT                                /FTId=VAR_064271.
FT   VARIANT    1667   1667       L -> P (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073617.
FT   VARIANT    1668   1668       P -> A (in EIEE6; dbSNP:rs121917948).
FT                                {ECO:0000269|PubMed:12821740,
FT                                ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_029711.
FT   VARIANT    1668   1668       P -> L (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073618.
FT   VARIANT    1672   1672       N -> I (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073619.
FT   VARIANT    1673   1673       I -> T (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073620.
FT   VARIANT    1674   1674       G -> R (in EIEE6; dbSNP:rs121918792).
FT                                {ECO:0000269|PubMed:12083760}.
FT                                /FTId=VAR_029712.
FT   VARIANT    1674   1674       G -> S (found in a patient acute
FT                                encephalopathy with biphasic seizures and
FT                                late reduced diffusion; unknown
FT                                pathological significance).
FT                                {ECO:0000269|PubMed:26311622}.
FT                                /FTId=VAR_075570.
FT   VARIANT    1675   1675       L -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073621.
FT   VARIANT    1677   1677       L -> F (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073622.
FT   VARIANT    1683   1683       I -> F (probable disease-associated
FT                                mutation found in a patient with an
FT                                unclassified form of epilepsy).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073623.
FT   VARIANT    1683   1683       I -> T (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073624.
FT   VARIANT    1684   1684       Y -> D (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073625.
FT   VARIANT    1684   1684       Y -> S (in ICEGTC).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073626.
FT   VARIANT    1685   1685       A -> D (in EIEE6; dbSNP:rs121918744).
FT                                {ECO:0000269|PubMed:12566275}.
FT                                /FTId=VAR_029714.
FT   VARIANT    1685   1685       A -> V (in GEFS+2; complete loss of
FT                                function; dbSNP:rs121918744).
FT                                {ECO:0000269|PubMed:11524484,
FT                                ECO:0000269|PubMed:14672992}.
FT                                /FTId=VAR_029715.
FT   VARIANT    1687   1687       F -> S (in GEFS+2; dbSNP:rs121917932).
FT                                {ECO:0000269|PubMed:17561957}.
FT                                /FTId=VAR_064324.
FT   VARIANT    1688   1688       G -> W (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073627.
FT   VARIANT    1692   1692       F -> S (in EIEE6; dbSNP:rs121918778).
FT                                {ECO:0000269|PubMed:14738421,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_029716.
FT   VARIANT    1694   1694       Y -> C (in EIEE6; dbSNP:rs121918777).
FT                                {ECO:0000269|PubMed:14738421,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_029713.
FT   VARIANT    1707   1707       F -> V (in EIEE6; dbSNP:rs121917977).
FT                                {ECO:0000269|PubMed:17347258}.
FT                                /FTId=VAR_064349.
FT   VARIANT    1709   1709       T -> I (in ICEGTC; loss-of-function
FT                                mutation resulting in absence of sodium
FT                                current; dbSNP:rs121918629).
FT                                {ECO:0000269|PubMed:12566275,
FT                                ECO:0000269|PubMed:16210358}.
FT                                /FTId=VAR_029717.
FT   VARIANT    1713   1713       S -> N (in EIEE6; dbSNP:rs121918816).
FT                                {ECO:0000269|PubMed:16122630}.
FT                                /FTId=VAR_064325.
FT   VARIANT    1714   1714       M -> K (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073628.
FT   VARIANT    1714   1714       M -> R (in EIEE6; dbSNP:rs121917949).
FT                                {ECO:0000269|PubMed:17054684,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_064326.
FT   VARIANT    1716   1716       C -> R (in EIEE6; dbSNP:rs121917926).
FT                                {ECO:0000269|PubMed:17561957}.
FT                                /FTId=VAR_064327.
FT   VARIANT    1721   1721       T -> R (in EIEE6; dbSNP:rs121917978).
FT                                {ECO:0000269|PubMed:17347258}.
FT                                /FTId=VAR_064350.
FT   VARIANT    1724   1724       A -> P (in ICEGTC).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073629.
FT   VARIANT    1725   1725       G -> C (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073630.
FT   VARIANT    1726   1726       W -> R (in EIEE6; dbSNP:rs121917979).
FT                                {ECO:0000269|PubMed:19589774}.
FT                                /FTId=VAR_064272.
FT   VARIANT    1727   1727       D -> G (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073631.
FT   VARIANT    1739   1739       P -> L (in GEFS+2).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073632.
FT   VARIANT    1741   1741       C -> R (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073633.
FT   VARIANT    1742   1742       D -> G (in GEFS+2; dbSNP:rs121918812).
FT                                {ECO:0000269|PubMed:15694566}.
FT                                /FTId=VAR_057998.
FT   VARIANT    1749   1749       G -> E (in EIEE6; dbSNP:rs121918798).
FT                                {ECO:0000269|PubMed:12754708}.
FT                                /FTId=VAR_029718.
FT   VARIANT    1756   1756       C -> G (in EIEE6; dbSNP:rs121918809).
FT                                {ECO:0000269|PubMed:19563458,
FT                                ECO:0000269|PubMed:20452746}.
FT                                /FTId=VAR_064273.
FT   VARIANT    1762   1762       G -> E (in EIEE6; dbSNP:rs121917950).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064328.
FT   VARIANT    1763   1763       I -> N (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073634.
FT   VARIANT    1765   1765       F -> L (in GEFS+2; disease phenotype
FT                                consists of partial epilepsy with
FT                                antecedent febrile seizures and seizure
FT                                aggravation by antiepileptic drugs; loss-
FT                                of-function mutation resulting in
FT                                complete absence of sodium current).
FT                                {ECO:0000269|PubMed:20550552}.
FT                                /FTId=VAR_073635.
FT   VARIANT    1766   1766       Missing (in EIEE6).
FT                                {ECO:0000269|PubMed:14738421,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_029719.
FT   VARIANT    1770   1770       I -> F (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073636.
FT   VARIANT    1770   1770       I -> N (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073637.
FT   VARIANT    1770   1770       I -> T (in EIEE6; borderline phenotype).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073638.
FT   VARIANT    1771   1771       I -> F (in EIEE6; borderline phenotype;
FT                                also found in a patient with focal
FT                                epilepsy). {ECO:0000269|PubMed:18330841,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073639.
FT   VARIANT    1771   1771       I -> N (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073640.
FT   VARIANT    1773   1773       S -> F (in EIEE6; dbSNP:rs121917951).
FT                                {ECO:0000269|PubMed:17054684}.
FT                                /FTId=VAR_064329.
FT   VARIANT    1780   1780       M -> T (in EIEE6; dbSNP:rs121917952).
FT                                {ECO:0000269|PubMed:12821740,
FT                                ECO:0000269|PubMed:17054684,
FT                                ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_029720.
FT   VARIANT    1781   1781       Y -> C (in EIEE6 and ICEGTC;
FT                                dbSNP:rs121918779).
FT                                {ECO:0000269|PubMed:14738421,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_029721.
FT   VARIANT    1781   1781       Y -> H (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073641.
FT   VARIANT    1782   1782       I -> M (in EIEE6; dbSNP:rs121918763).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:20522430}.
FT                                /FTId=VAR_064274.
FT   VARIANT    1782   1782       I -> S (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073642.
FT   VARIANT    1783   1783       A -> T (in EIEE6; dbSNP:rs121917980).
FT                                {ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:19589774,
FT                                ECO:0000269|PubMed:20431604,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_064275.
FT   VARIANT    1783   1783       A -> V (in EIEE6; dbSNP:rs121917921).
FT                                {ECO:0000269|PubMed:17561957,
FT                                ECO:0000269|PubMed:18930999,
FT                                ECO:0000269|PubMed:21248271,
FT                                ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_064345.
FT   VARIANT    1787   1787       E -> K (in EIEE6; dbSNP:rs121917916).
FT                                {ECO:0000269|PubMed:17561957,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_064330.
FT   VARIANT    1788   1788       N -> K (in EIEE6; unknown pathological
FT                                significance).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073643.
FT   VARIANT    1792   1792       A -> T (in EIEE6).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073644.
FT   VARIANT    1795   1795       E -> K (in GEFS+2; dbSNP:rs121918813).
FT                                {ECO:0000269|PubMed:20600615}.
FT                                /FTId=VAR_064276.
FT   VARIANT    1807   1810       Missing (in EIEE6).
FT                                {ECO:0000269|PubMed:12566275}.
FT                                /FTId=VAR_029722.
FT   VARIANT    1808   1808       F -> I (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073645.
FT   VARIANT    1808   1808       F -> L (in ICEGTC; results in decreased
FT                                peak current density but significantly
FT                                greater levels of persistent non-
FT                                inactivating current compared to wild-
FT                                type channel; dbSNP:rs121918757).
FT                                {ECO:0000269|PubMed:12566275,
FT                                ECO:0000269|PubMed:16210358}.
FT                                /FTId=VAR_029723.
FT   VARIANT    1812   1815       WEKF -> C (in EIEE6).
FT                                /FTId=VAR_029725.
FT   VARIANT    1812   1812       W -> G (in EIEE6; dbSNP:rs121918751).
FT                                {ECO:0000269|PubMed:12566275}.
FT                                /FTId=VAR_029724.
FT   VARIANT    1812   1812       W -> S (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073646.
FT   VARIANT    1813   1815       Missing (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073647.
FT   VARIANT    1831   1831       F -> S (in EIEE6; dbSNP:rs121918748).
FT                                {ECO:0000269|PubMed:12566275}.
FT                                /FTId=VAR_029726.
FT   VARIANT    1832   1832       A -> P (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073648.
FT   VARIANT    1835   1835       L -> F (in EIEE6).
FT                                {ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_073649.
FT   VARIANT    1852   1852       M -> K (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073650.
FT   VARIANT    1852   1852       M -> T (in GEFS+2; loss of function;
FT                                defective trafficking to cell membrane
FT                                and no inhibition of its interaction with
FT                                SCN1B; dbSNP:rs121918783).
FT                                {ECO:0000269|PubMed:12919402,
FT                                ECO:0000269|PubMed:17928445}.
FT                                /FTId=VAR_029727.
FT   VARIANT    1855   1855       P -> L (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073651.
FT   VARIANT    1857   1857       V -> L (in GEFS+2; dbSNP:rs121918814).
FT                                {ECO:0000269|PubMed:15715999}.
FT                                /FTId=VAR_057999.
FT   VARIANT    1861   1861       R -> W (in ICEGTC).
FT                                {ECO:0000269|PubMed:23195492}.
FT                                /FTId=VAR_073652.
FT   VARIANT    1866   1866       D -> Y (in GEFS+2; causes a positive
FT                                shift in the voltage dependence of sodium
FT                                channel fast inactivation; causes an
FT                                increase in the magnitude of the
FT                                persistent current; causes delay in the
FT                                kinetics of inactivation and
FT                                significantly reduces interaction with
FT                                SCN1B; dbSNP:rs121918815).
FT                                {ECO:0000269|PubMed:15525788}.
FT                                /FTId=VAR_058000.
FT   VARIANT    1867   1867       I -> T (in GEFS+2).
FT                                {ECO:0000269|PubMed:18251839,
FT                                ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073653.
FT   VARIANT    1880   1880       G -> E (in EIEE6; dbSNP:rs201905405).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073654.
FT   VARIANT    1881   1881       E -> D (in EIEE6; dbSNP:rs121918804).
FT                                {ECO:0000269|PubMed:14504318}.
FT                                /FTId=VAR_029728.
FT   VARIANT    1909   1909       T -> I (in EIEE6; functional channel
FT                                displaying decreased peak current
FT                                densities but increased persistent
FT                                current; dbSNP:rs121918793).
FT                                {ECO:0000269|PubMed:12083760,
FT                                ECO:0000269|PubMed:17054685}.
FT                                /FTId=VAR_029729.
FT   VARIANT    1909   1909       Missing (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073655.
FT   VARIANT    1922   1922       I -> T (in EIEE6; dbSNP:rs121917981).
FT                                {ECO:0000269|PubMed:17347258}.
FT                                /FTId=VAR_064351.
FT   VARIANT    1927   1927       R -> IIQ (in EIEE6).
FT                                {ECO:0000269|PubMed:21248271}.
FT                                /FTId=VAR_073656.
FT   VARIANT    1928   1928       R -> G (in dbSNP:rs121917956).
FT                                {ECO:0000269|PubMed:11254444,
FT                                ECO:0000269|PubMed:18413471,
FT                                ECO:0000269|PubMed:18930999}.
FT                                /FTId=VAR_043371.
FT   VARIANT    1955   1955       I -> T (in dbSNP:rs35735053).
FT                                {ECO:0000269|PubMed:12610651}.
FT                                /FTId=VAR_029730.
FT   VARIANT    1957   1957       E -> G (in infantile spasms;
FT                                dbSNP:rs121918802).
FT                                {ECO:0000269|PubMed:14504318}.
FT                                /FTId=VAR_029731.
FT   VARIANT    1977   1977       M -> L (found in a patient with febrile
FT                                seizures and non-specific acute
FT                                encephalopathy; unknown pathological
FT                                significance).
FT                                {ECO:0000269|PubMed:22309220}.
FT                                /FTId=VAR_075571.
FT   VARIANT    1988   1988       R -> W (found in a patient with epilepsy-
FT                                aphasia and febrile seizures plus;
FT                                unknown pathological significance;
FT                                dbSNP:rs756519197).
FT                                {ECO:0000269|PubMed:23708187}.
FT                                /FTId=VAR_078611.
FT   CONFLICT    670    670       E -> G (in Ref. 2; AAK00217).
FT                                {ECO:0000305}.
FT   CONFLICT    746    746       L -> S (in Ref. 2; AAK00217).
FT                                {ECO:0000305}.
FT   CONFLICT    930    930       P -> PQ (in Ref. 2; AAK00217).
FT                                {ECO:0000305}.
FT   CONFLICT   1158   1161       DIGA -> GHRR (in Ref. 2; AAK00217).
FT                                {ECO:0000305}.
FT   CONFLICT   1537   1537       F -> L (in Ref. 7; CAA46439/M91803).
FT                                {ECO:0000305}.
SQ   SEQUENCE   2009 AA;  228972 MW;  0593A6730F33C9A2 CRC64;
     MEQTVLVPPG PDSFNFFTRE SLAAIERRIA EEKAKNPKPD KKDDDENGPK PNSDLEAGKN
     LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVLNKGKAIF RFSATSALYI LTPFNPLRKI
     AIKILVHSLF SMLIMCTILT NCVFMTMSNP PDWTKNVEYT FTGIYTFESL IKIIARGFCL
     EDFTFLRDPW NWLDFTVITF AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL
     IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCIQW PPTNASLEEH SIEKNITVNY
     NGTLINETVF EFDWKSYIQD SRYHYFLEGF LDALLCGNSS DAGQCPEGYM CVKAGRNPNY
     GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM IFFVLVIFLG SFYLINLILA
     VVAMAYEEQN QATLEEAEQK EAEFQQMIEQ LKKQQEAAQQ AATATASEHS REPSAAGRLS
     DSSSEASKLS SKSAKERRNR RKKRKQKEQS GGEEKDEDEF QKSESEDSIR RKGFRFSIEG
     NRLTYEKRYS SPHQSLLSIR GSLFSPRRNS RTSLFSFRGR AKDVGSENDF ADDEHSTFED
     NESRRDSLFV PRRHGERRNS NLSQTSRSSR MLAVFPANGK MHSTVDCNGV VSLVGGPSVP
     TSPVGQLLPE VIIDKPATDD NGTTTETEMR KRRSSSFHVS MDFLEDPSQR QRAMSIASIL
     TNTVEELEES RQKCPPCWYK FSNIFLIWDC SPYWLKVKHV VNLVVMDPFV DLAITICIVL
     NTLFMAMEHY PMTDHFNNVL TVGNLVFTGI FTAEMFLKII AMDPYYYFQE GWNIFDGFIV
     TLSLVELGLA NVEGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL GNLTLVLAII
     VFIFAVVGMQ LFGKSYKDCV CKIASDCQLP RWHMNDFFHS FLIVFRVLCG EWIETMWDCM
     EVAGQAMCLT VFMMVMVIGN LVVLNLFLAL LLSSFSADNL AATDDDNEMN NLQIAVDRMH
     KGVAYVKRKI YEFIQQSFIR KQKILDEIKP LDDLNNKKDS CMSNHTAEIG KDLDYLKDVN
     GTTSGIGTGS SVEKYIIDES DYMSFINNPS LTVTVPIAVG ESDFENLNTE DFSSESDLEE
     SKEKLNESSS SSEGSTVDIG APVEEQPVVE PEETLEPEAC FTEGCVQRFK CCQINVEEGR
     GKQWWNLRRT CFRIVEHNWF ETFIVFMILL SSGALAFEDI YIDQRKTIKT MLEYADKVFT
     YIFILEMLLK WVAYGYQTYF TNAWCWLDFL IVDVSLVSLT ANALGYSELG AIKSLRTLRA
     LRPLRALSRF EGMRVVVNAL LGAIPSIMNV LLVCLIFWLI FSIMGVNLFA GKFYHCINTT
     TGDRFDIEDV NNHTDCLKLI ERNETARWKN VKVNFDNVGF GYLSLLQVAT FKGWMDIMYA
     AVDSRNVELQ PKYEESLYMY LYFVIFIIFG SFFTLNLFIG VIIDNFNQQK KKFGGQDIFM
     TEEQKKYYNA MKKLGSKKPQ KPIPRPGNKF QGMVFDFVTR QVFDISIMIL ICLNMVTMMV
     ETDDQSEYVT TILSRINLVF IVLFTGECVL KLISLRHYYF TIGWNIFDFV VVILSIVGMF
     LAELIEKYFV SPTLFRVIRL ARIGRILRLI KGAKGIRTLL FALMMSLPAL FNIGLLLFLV
     MFIYAIFGMS NFAYVKREVG IDDMFNFETF GNSMICLFQI TTSAGWDGLL APILNSKPPD
     CDPNKVNPGS SVKGDCGNPS VGIFFFVSYI IISFLVVVNM YIAVILENFS VATEESAEPL
     SEDDFEMFYE VWEKFDPDAT QFMEFEKLSQ FAAALEPPLN LPQPNKLQLI AMDLPMVSGD
     RIHCLDILFA FTKRVLGESG EMDALRIQME ERFMASNPSK VSYQPITTTL KRKQEEVSAV
     IIQRAYRRHL LKRTVKQASF TYNKNKIKGG ANLLIKEDMI IDRINENSIT EKTDLTMSTA
     ACPPSYDRVT KPIVEKHEQE GKDEKAKGK
//
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