KEGG   DISEASE: Early infantile epileptic encephalopathy
Entry
H00606                      Disease                                
Name
Early infantile epileptic encephalopathy;
Developmental and epileptic encephalopathy;
Ohtahara syndrome
  Subgroup
West syndrome [DS:H01460]
Lennox-Gastaut syndrome [DS:H01813]
PCDH19-related epilepsy syndrome [DS:H01775]
Malignant migrating partial seizures in infancy [DS:H01815]
Global cerebral hypomyelination [DS:H01305]
  Supergrp
Symptomatic generalized epilepsies [DS:H00577]
Description
Early infantile epileptic encephalopathy (EIEE), also known as developmental and epileptic encephalopathy (DEE), is characterized by frequent tonic spasms of early onset within a few months of life, and a suppression-burst pattern in electroencephalography (EEG). Many causes have been considered for EIEE. It has been reported that 75% of the cases subsequently evolve to West syndrome, and later a much smaller number progress to Lennox-Gastaut syndrome.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Epilepsy or seizures
   8A62  Epileptic encephalopathies
    H00606  Early infantile epileptic encephalopathy
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06528  Calcium signaling
   H00606  Early infantile epileptic encephalopathy
 Cellular process
  nt06512  Chromosome cohesion and segregation
   H00606  Early infantile epileptic encephalopathy
  nt06541  Cytoskeleton in neurons
   H00606  Early infantile epileptic encephalopathy
Pathway
hsa04020  Calcium signaling pathway
Network
nt06512 Chromosome cohesion and segregation
nt06528 Calcium signaling
nt06541 Cytoskeleton in neurons
Gene
(DEE1) ARX [HSA:170302] [KO:K09452]
(DEE2) CDKL5 [HSA:6792] [KO:K08824]
(DEE3) SLC25A22 [HSA:79751] [KO:K15107]
(DEE4) STXBP1 [HSA:6812] [KO:K15292]
(DEE5) SPTAN1 [HSA:6709] [KO:K06114]
(DEE6B) SCN1A [HSA:6323] [KO:K04833]
(DEE7) KCNQ2 [HSA:3785] [KO:K04927]
(DEE8) ARHGEF9 [HSA:23229] [KO:K20686]
(DEE9) PCDH19 [HSA:57526] [KO:K16499]
(DEE10) PNKP [HSA:11284] [KO:K08073]
(DEE11) SCN2A [HSA:6326] [KO:K04834]
(DEE12) PLCB1 [HSA:23236] [KO:K05858]
(DEE13) SCN8A [HSA:6334] [KO:K04840]
(DEE14) KCNT1 [HSA:57582] [KO:K04946]
(DEE15) ST3GAL3 [HSA:6487] [KO:K00781]
(DEE16) TBC1D24 [HSA:57465] [KO:K21841]
(DEE17) GNAO1 [HSA:2775] [KO:K04534]
(DEE18) SZT2 [HSA:23334] [KO:K23298]
(DEE19) GABRA1 [HSA:2554] [KO:K05175]
(DEE21) NECAP1 [HSA:25977] [KO:K20069]
(DEE22) SLC35A2 [HSA:7355] [KO:K15272]
(DEE23) DOCK7 [HSA:85440] [KO:K21852]
(DEE24) HCN1 [HSA:348980] [KO:K04954]
(DEE25) SLC13A5 [HSA:284111] [KO:K14445]
(DEE26) KCNB1 [HSA:3745] [KO:K04885]
(DEE27) GRIN2B [HSA:2904] [KO:K05210]
(DEE28) WWOX [HSA:51741] [KO:K19329]
(DEE29) AARS [HSA:16] [KO:K01872]
(DEE30) SIK1 [HSA:150094] [KO:K19008]
(DEE31A/31B) DNM1 [HSA:1759] [KO:K01528]
(DEE32) KCNA2 [HSA:3737] [KO:K04875]
(DEE33) EEF1A2 [HSA:1917] [KO:K03231]
(DEE34) SLC12A5 [HSA:57468] [KO:K23967]
(DEE35) ITPA [HSA:3704] [KO:K01519]
(DEE36) ALG13 [HSA:79868] [KO:K07432]
(DEE37) FRRS1L [HSA:23732] [KO:K25381]
(DEE38) ARV1 [HSA:64801] [KO:K21848]
(DEE39) SLC25A12 [HSA:8604] [KO:K15105]
(DEE40) GUF1 [HSA:60558] [KO:K21594]
(DEE41) SLC1A2 [HSA:6506] [KO:K05613]
(DEE42) CACNA1A [HSA:773] [KO:K04344]
(DEE43) GABRB3 [HSA:2562] [KO:K05181]
(DEE44) UBA5 [HSA:79876] [KO:K12164]
(DEE45) GABRB1 [HSA:2560] [KO:K05181]
(DEE46) GRIN2D [HSA:2906] [KO:K05212]
(DEE47) FGF12 [HSA:2257] [KO:K22413]
(DEE48) AP3B2 [HSA:8120] [KO:K12397]
(DEE49) DENND5A [HSA:23258] [KO:K20164]
(DEE50) CAD [HSA:790] [KO:K11540]
(DEE51) MDH2 [HSA:4191] [KO:K00026]
(DEE52) SCN1B [HSA:6324] [KO:K04845]
(DEE53) SYNJ1 [HSA:8867] [KO:K20279]
(DEE54) HNRNPU [HSA:3192] [KO:K12888]
(DEE55) PIGP [HSA:51227] [KO:K03861]
(DEE56) YWHAG [HSA:7532] [KO:K16198]
(DEE57) KCNT2 [HSA:343450] [KO:K04947]
(DEE58) NTRK2 [HSA:4915] [KO:K04360]
(DEE59) GABBR2 [HSA:9568] [KO:K04615]
(DEE60) CNPY3 [HSA:10695] [KO:K22816]
(DEE61) ADAM22 [HSA:53616] [KO:K16068]
(DEE62) SCN3A [HSA:6328] [KO:K04836]
(DEE63) CPLX1 [HSA:10815] [KO:K15294]
(DEE64) RHOBTB2 [HSA:23221] [KO:K07868]
(DEE65) CYFIP2 [HSA:26999] [KO:K05749]
(DEE66) PACS2 [HSA:23241] [KO:K23294]
(DEE67) CUX2 [HSA:23316] [KO:K09313]
(DEE68) TRAK1 [HSA:22906] [KO:K15369]
(DEE69) CACNA1E [HSA:777] [KO:K04852]
(DEE70) PHACTR1 [HSA:221692] [KO:K17594]
(DEE71) GLS [HSA:2744] [KO:K01425]
(DEE72) NEUROD2 [HSA:4761] [KO:K09078]
(DEE73) RNF13 [HSA:11342] [KO:K15692]
(DEE74) GABRG2 [HSA:2566] [KO:K05186]
(DEE75) PARS2 [HSA:25973] [KO:K01881]
(DEE76) ACTL6B [HSA:51412] [KO:K11652]
(DEE77) PIGQ [HSA:9091] [KO:K03860]
(DEE78) GABRA2 [HSA:2555] [KO:K05175]
(DEE79) GABRA5 [HSA:2558] [KO:K05175]
(DEE80) PIGB [HSA:9488] [KO:K05286]
(DEE81) DMXL2 [HSA:23312] [KO:K24155]
(DEE82) GOT2 [HSA:2806] [KO:K14455]
(DEE83) UGP2 [HSA:7360] [KO:K00963]
(DEE84) UGDH [HSA:7358] [KO:K00012]
(DEE85) SMC1A [HSA:8243] [KO:K06636]
(DEE86) DALRD3 [HSA:55152] [KO:K24973]
(DEE87) CDK19 [HSA:23097] [KO:K02208]
(DEE88) MDH1 [HSA:4190] [KO:K00025]
(DEE89) GAD1 [HSA:2571] [KO:K01580]
(DEE90) FGF13 [HSA:2258] [KO:K22413]
(DEE91) PPP3CA [HSA:5530] [KO:K04348]
(DEE92) GABRB2 [HSA:2561] [KO:K05181]
(DEE93) ATP6V1A [HSA:523] [KO:K02145]
(DEE94) CHD2 [HSA:1106] [KO:K20091]
(DEE95) PIGS [HSA:94005] [KO:K05291]
(DEE96) NSF [HSA:4905] [KO:K06027]
(DEE97) CELF2 [HSA:10659] [KO:K13207]
(DEE98) ATP1A2 [HSA:477] [KO:K01539]
(DEE99) ATP1A3 [HSA:478] [KO:K01539]
(DEE100) FBXO28 [HSA:23219] [KO:K10306]
(DEE101) GRIN1 [HSA:2902] [KO:K05208]
(DEE102) SLC38A3 [HSA:10991] [KO:K13576]
(DEE103) KCNC2 [HSA:3747] [KO:K04888]
(DEE104) ATP6V0A1 [HSA:535] [KO:K02154]
(DEE105) HID1 [HSA:283987] [KO:K27894]
(DEE106) UFSP2 [HSA:55325] [KO:K01376]
(DEE107) NAPB [HSA:63908] [KO:K26120]
(DEE108) MAST3 [HSA:23031] [KO:K08789]
(DEE109) FZR1 [HSA:51343] [KO:K03364]
(DEE110) CACNA2D1 [HSA:781] [KO:K04858]
(DEE111) DEPDC5 [HSA:9681] [KO:K20404]
(DEE112) KCNH5 [HSA:27133] [KO:K04908]
(DEE113) SV2A [HSA:9900] [KO:K06258]
(DEE114) SLC32A1 [HSA:140679] [KO:K15015]
(DEE115) SNF8 [HSA:11267] [KO:K12188]
(DEE116) GLUL [HSA:2752] [KO:K01915]
Other DBs
ICD-11: 8A62.Y
ICD-10: G40.3
MeSH: C538670
OMIM: 308350 300672 609304 612164 613477 619317 613720 300607 300088 613402 613721 613722 614558 614959 615006 615338 615473 615476 615744 615833 300896 615859 615871 615905 616056 616139 616211 616339 616341 616346 620352 616366 616409 616645 616647 300884 616981 617020 612949 617065 617105 617106 617113 617132 617153 617162 617166 617276 617281 114010 617339 617350 617389 617391 617904 617771 617830 617904 617599 617665 617929 617933 617938 617976 618004 618008 618067 618141 618201 618285 618298 618328 618374 618379 618396 618437 618468 618548 618557 618559 618580 618663 618721 618744 618792 301044 618910 618916 618959 619124 301058 617711 617829 618012 615369 618143 619340 619561 619605 619606 619777 619814 619881 619913 619970 619983 620028 620033 620115 620145 620149 620504 620537 620772 620774 620783 620806
Reference
  Authors
Ohtahara S, Yamatogi Y
  Title
Epileptic encephalopathies in early infancy with suppression-burst.
  Journal
J Clin Neurophysiol 20:398-407 (2003)
DOI:10.1097/00004691-200311000-00003
Reference
  Authors
Ohtahara S, Yamatogi Y
  Title
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.
  Journal
Epilepsy Res 70 Suppl 1:S58-67 (2006)
DOI:10.1016/j.eplepsyres.2005.11.021
Reference
  Authors
Yamatogi Y, Ohtahara S
  Title
Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases.
  Journal
Brain Dev 24:13-23 (2002)
DOI:10.1016/S0387-7604(01)00392-8
Reference
  Authors
Gonsales MC, Montenegro MA, Soler CV, Coan AC, Guerreiro MM, Lopes-Cendes I
  Title
Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice.
  Journal
Arq Neuropsiquiatr 73:946-58 (2015)
DOI:10.1590/0004-282X20150122
Reference
  Authors
McTague A, Howell KB, Cross JH, Kurian MA, Scheffer IE
  Title
The genetic landscape of the epileptic encephalopathies of infancy and childhood.
  Journal
Lancet Neurol 15:304-16 (2016)
DOI:10.1016/S1474-4422(15)00250-1
Reference
PMID:11889467 (DEE1)
  Authors
Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gecz J
  Title
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
  Journal
Nat Genet 30:441-5 (2002)
DOI:10.1038/ng862
Reference
PMID:15492925 (DEE2)
  Authors
Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gecz J
  Title
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
  Journal
Am J Hum Genet 75:1079-93 (2004)
DOI:10.1086/426462
Reference
PMID:15592994 (DEE3)
  Authors
Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L
  Title
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
  Journal
Am J Hum Genet 76:334-9 (2005)
DOI:10.1086/427564
Reference
PMID:18469812 (DEE4)
  Authors
Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N
  Title
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
  Journal
Nat Genet 40:782-8 (2008)
DOI:10.1038/ng.150
Reference
PMID:20493457 (DEE5)
  Authors
Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N
  Title
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
  Journal
Am J Hum Genet 86:881-91 (2010)
DOI:10.1016/j.ajhg.2010.04.013
Reference
PMID:24776920 (DEE6B)
  Authors
Ohashi T, Akasaka N, Kobayashi Y, Magara S, Kawashima H, Matsumoto N, Saitsu H, Tohyama J
  Title
Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.
  Journal
Epileptic Disord 16:208-12 (2014)
DOI:10.1684/epd.2014.0649
Reference
PMID:12742592 (DEE7)
  Authors
Dedek K, Fusco L, Teloy N, Steinlein OK
  Title
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
  Journal
Epilepsy Res 54:21-7 (2003)
DOI:10.1016/s0920-1211(03)00037-8
Reference
PMID:15215304 (DEE8)
  Authors
Harvey K, Duguid IC, Alldred MJ, Beatty SE, Ward H, Keep NH, Lingenfelter SE, Pearce BR, Lundgren J, Owen MJ, Smart TG, Luscher B, Rees MI, Harvey RJ
  Title
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.
  Journal
J Neurosci 24:5816-26 (2004)
DOI:10.1523/JNEUROSCI.1184-04.2004
Reference
PMID:18469813 (DEE9)
  Authors
Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gecz J
  Title
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
  Journal
Nat Genet 40:776-81 (2008)
DOI:10.1038/ng.149
Reference
PMID:20118933 (DEE10)
  Authors
Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA
  Title
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
  Journal
Nat Genet 42:245-9 (2010)
DOI:10.1038/ng.526
Reference
PMID:15028761 (DEE11)
  Authors
Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K
  Title
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.
  Journal
J Neurosci 24:2690-8 (2004)
DOI:10.1523/JNEUROSCI.3089-03.2004
Reference
PMID:20833646 (DEE12)
  Authors
Kurian MA, Meyer E, Vassallo G, Morgan NV, Prakash N, Pasha S, Hai NA, Shuib S, Rahman F, Wassmer E, Cross JH, O'Callaghan FJ, Osborne JP, Scheffer IE, Gissen P, Maher ER
  Title
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.
  Journal
Brain 133:2964-70 (2010)
DOI:10.1093/brain/awq238
Reference
PMID:22365152 (DEE13)
  Authors
Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF
  Title
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
  Journal
Am J Hum Genet 90:502-10 (2012)
DOI:10.1016/j.ajhg.2012.01.006
Reference
PMID:23086397 (DEE14)
  Authors
Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R
  Title
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
  Journal
Nat Genet 44:1255-9 (2012)
DOI:10.1038/ng.2441
Reference
PMID:23252400 (DEE15)
  Authors
Edvardson S, Baumann AM, Muhlenhoff M, Stephan O, Kuss AW, Shaag A, He L, Zenvirt S, Tanzi R, Gerardy-Schahn R, Elpeleg O
  Title
West syndrome caused by ST3Gal-III deficiency.
  Journal
Epilepsia 54:e24-7 (2013)
DOI:10.1111/epi.12050
Reference
PMID:23526554 (DEE16)
  Authors
Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A
  Title
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.
  Journal
Hum Mutat 34:869-72 (2013)
DOI:10.1002/humu.22318
Reference
PMID:23993195 (DEE17)
  Authors
Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H
  Title
De Novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
  Journal
Am J Hum Genet 93:496-505 (2013)
DOI:10.1016/j.ajhg.2013.07.014
Reference
PMID:23932106 (DEE18)
  Authors
Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nurnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G
  Title
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.
  Journal
Am J Hum Genet 93:524-9 (2013)
DOI:10.1016/j.ajhg.2013.07.005
Reference
PMID:24623842 (DEE19)
  Authors
Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Moller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC
  Title
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
  Journal
Neurology 82:1245-53 (2014)
DOI:10.1212/WNL.0000000000000291
Reference
PMID:24399846 (DEE21)
  Authors
Alazami AM, Hijazi H, Kentab AY, Alkuraya FS
  Title
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.
  Journal
J Med Genet 51:224-8 (2014)
DOI:10.1136/jmedgenet-2013-102030
Reference
PMID:24115232 (DEE22)
  Authors
Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H
  Title
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
  Journal
Hum Mutat 34:1708-14 (2013)
DOI:10.1002/humu.22446
Reference
PMID:24814191 (DEE23)
  Authors
Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Decarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gerard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL
  Title
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
  Journal
Am J Hum Genet 94:891-7 (2014)
DOI:10.1016/j.ajhg.2014.04.012
Reference
PMID:24747641 (DEE24)
  Authors
Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cances C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP, Haaf T, LeGuern E, Depienne C
  Title
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
  Journal
Nat Genet 46:640-5 (2014)
DOI:10.1038/ng.2952
Reference
PMID:24995870 (DEE25)
  Authors
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Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
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Am J Hum Genet 95:113-20 (2014)
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Ann Neurol 75:147-54 (2014)
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The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
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Am J Hum Genet 99:695-703 (2016)
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Am J Hum Genet 99:802-816 (2016)
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PMID:30343943 (DEE69)
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Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Heron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC
  Title
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
  Journal
Am J Hum Genet 103:666-678 (2018)
DOI:10.1016/j.ajhg.2018.09.006
Reference
PMID:30256902 (DEE70)
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Hamada N, Ogaya S, Nakashima M, Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N, Momiyama T, Nagata KI
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De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.
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Brain 141:3098-3114 (2018)
DOI:10.1093/brain/awy246
Reference
PMID:30575854 (DEE71)
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Rumping L, Buttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R
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Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
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JAMA Neurol 76:342-350 (2019)
DOI:10.1001/jamaneurol.2018.2941
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PMID:30323019 (DEE72)
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Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA
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De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.
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J Med Genet 56:113-122 (2019)
DOI:10.1136/jmedgenet-2018-105322
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PMID:30595371 (DEE73)
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Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A, Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O, Moldovan GL
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Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
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Am J Hum Genet 104:179-185 (2019)
DOI:10.1016/j.ajhg.2018.11.018
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PMID:27864268 (DEE74)
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Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL
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De novo GABRG2 mutations associated with epileptic encephalopathies.
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Brain 140:49-67 (2017)
DOI:10.1093/brain/aww272
Reference
PMID:29915213 (DEE75)
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Yin X, Tang B, Mao X, Peng J, Zeng S, Wang Y, Jiang H, Li N
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The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.
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J Hum Genet 63:971-980 (2018)
DOI:10.1038/s10038-018-0478-z
Reference
PMID:31031012 (DEE76)
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Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Ostern R, Houge G, Hafstrom M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM
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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
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Am J Hum Genet 104:815-834 (2019)
DOI:10.1016/j.ajhg.2019.03.022
Reference
PMID:32588908 (DEE77)
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Johnstone DL, Nguyen TTM, Zambonin J, Kernohan KD, St-Denis A, Baratang NV, Hartley T, Geraghty MT, Richer J, Majewski J, Bareke E, Guerin A, Pendziwiat M, Pena LDM, Braakman HMH, Gripp KW, Edmondson AC, He M, Spillmann RC, Eklund EA, Bayat A, McMillan HJ, Boycott KM, Campeau PM
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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
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J Inherit Metab Dis 43:1321-1332 (2020)
DOI:10.1002/jimd.12278
Reference
PMID:29961870 (DEE78_79)
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Butler KM, Moody OA, Schuler E, Coryell J, Alexander JJ, Jenkins A, Escayg A
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De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
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Brain 141:2392-2405 (2018)
DOI:10.1093/brain/awy171
Reference
PMID:31256876 (DEE80)
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Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmuller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM
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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
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Am J Hum Genet 105:384-394 (2019)
DOI:10.1016/j.ajhg.2019.05.019
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PMID:31688942 (DEE81)
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Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedi S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R
  Title
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
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Brain 142:3876-3891 (2019)
DOI:10.1093/brain/awz326
Reference
PMID:31422819 (DEE82)
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van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drogemoller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA
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Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
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Am J Hum Genet 105:534-548 (2019)
DOI:10.1016/j.ajhg.2019.07.015
Reference
PMID:31820119 (DEE83)
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Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS
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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
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Acta Neuropathol 139:415-442 (2020)
DOI:10.1007/s00401-019-02109-6
Reference
PMID:32001716 (DEE84)
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Hengel H, Bosso-Lefevre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot E, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schule R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schols L, Reversade B
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
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Nat Commun 11:595 (2020)
DOI:10.1038/s41467-020-14360-7
Reference
PMID:26358754 (DEE85)
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Lebrun N, Lebon S, Jeannet PY, Jacquemont S, Billuart P, Bienvenu T
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Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
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Am J Med Genet A 167A:3076-81 (2015)
DOI:10.1002/ajmg.a.37364
Reference
PMID:32427860 (DEE86)
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Lentini JM, Alsaif HS, Faqeih E, Alkuraya FS, Fu D
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DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification.
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Nat Commun 11:2510 (2020)
DOI:10.1038/s41467-020-16321-6
Reference
PMID:32330417 (DEE87)
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Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B
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De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
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Am J Hum Genet 106:717-725 (2020)
DOI:10.1016/j.ajhg.2020.04.001
Reference
PMID:31538237 (DEE88)
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Broeks MH, Shamseldin HE, Alhashem A, Hashem M, Abdulwahab F, Alshedi T, Alobaid I, Zwartkruis F, Westland D, Fuchs S, Verhoeven-Duif NM, Jans JJM, Alkuraya FS
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MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.
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Hum Genet 138:1247-1257 (2019)
DOI:10.1007/s00439-019-02063-z
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PMID:32282878 (DEE89)
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Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL, Moslemi AR, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H
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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
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Brain 143:1447-1461 (2020)
DOI:10.1093/brain/awaa085
Reference
PMID:33245860 (DEE90)
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Fry AE, Marra C, Derrick AV, Pickrell WO, Higgins AT, Te Water Naude J, McClatchey MA, Davies SJ, Metcalfe KA, Tan HJ, Mohanraj R, Avula S, Williams D, Brady LI, Mesterman R, Tarnopolsky MA, Zhang Y, Yang Y, Wang X, Rees MI, Goldfarb M, Chung SK
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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
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Am J Hum Genet 108:176-185 (2021)
DOI:10.1016/j.ajhg.2020.10.017
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PMID:28942967 (DEE91)
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Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL
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De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
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Am J Hum Genet 101:516-524 (2017)
DOI:10.1016/j.ajhg.2017.08.013
Reference
PMID:27789573 (DEE92)
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Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S
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A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.
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J Med Genet 54:202-211 (2017)
DOI:10.1136/jmedgenet-2016-104083
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PMID:29668857 (DEE93)
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Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gunduz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R
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De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
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Brain 141:1703-1718 (2018)
DOI:10.1093/brain/awy092
Reference
PMID:30269814 (DEE95)
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Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM
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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
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Am J Hum Genet 103:602-611 (2018)
DOI:10.1016/j.ajhg.2018.08.014
Reference
PMID:31675180 (DEE96)
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Suzuki H, Yoshida T, Morisada N, Uehara T, Kosaki K, Sato K, Matsubara K, Takano-Shimizu T, Takenouchi T
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De novo NSF mutations cause early infantile epileptic encephalopathy.
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Ann Clin Transl Neurol 6:2334-2339 (2019)
DOI:10.1002/acn3.50917
Reference
PMID:33131106 (DEE97)
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Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brosse I, Ries M, Kobayashi Y, Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, Uchiyama Y, Tsuchida N, Fujita A, Azuma Y, Koshimizu E, Mizuguchi T, Takata A, Miyake N, Takahashi H, Miyagi E, Tsurusaki Y, Doi H, Taguri M, Antonarakis SE, Nakashima M, Saitsu H, Miyatake S, Matsumoto N
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De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
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Hum Mutat 42:66-76 (2021)
DOI:10.1002/humu.24130
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PMID:33880529 (DEE98_99)
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Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Moller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R
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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
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Brain 144:1435-1450 (2021)
DOI:10.1093/brain/awab052
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PMID:30160831 (DEE100)
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Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V
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A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute  to the 1q41-q42 deletion phenotype.
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Am J Med Genet A 176:1549-1558 (2018)
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PMID:27164704 (DEE101)
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Lemke JR, Geider K, Helbig KL, Heyne HO, Schutz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Moller RS, Hjalgrim H, Lal D, Neubauer BA, Nurnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Stromme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sa J, Mendonca C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S
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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
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Neurology 86:2171-8 (2016)
DOI:10.1212/WNL.0000000000002740
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PMID:34605855 (DEE102)
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Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR
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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
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Brain 145:909-924 (2022)
DOI:10.1093/brain/awab369
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PMID:31972370 (DEE103)
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Vetri L, Cali F, Vinci M, Amato C, Roccella M, Granata T, Freri E, Solazzi R, Romano V, Elia M
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A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.
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Eur J Med Genet 63:103848 (2020)
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PMID:33833240 (DEE104)
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Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N, Saitsu H
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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice.
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Nat Commun 12:2107 (2021)
DOI:10.1038/s41467-021-22389-5
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PMID:33999436 (DEE105)
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Schanzer A, Achleitner MT, Trumbach D, Hubert L, Munnich A, Ahlemeyer B, AlAbdulrahim MM, Greif PA, Vosberg S, Hummer B, Feichtinger RG, Mayr JA, Wortmann SB, Aichner H, Rudnik-Schoneborn S, Ruiz A, Gabau E, Sanchez JP, Ellard S, Homfray T, Stals KL, Wurst W, Neubauer BA, Acker T, Bohlander SK, Asensio C, Besmond C, Alkuraya FS, AlSayed MD, Hahn A, Weber A
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Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
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Ann Neurol 90:143-158 (2021)
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PMID:33473208 (DEE106)
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Ni M, Afroze B, Xing C, Pan C, Shao Y, Cai L, Cantarel BL, Pei J, Grishin NV, Hewson S, Knight D, Mahida S, Michel D, Tarnopolsky M, Poduri A, Rotenberg A, Sondheimer N, DeBerardinis RJ
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A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
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Genet Med 23:900-908 (2021)
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PMID:26235277 (DEE107)
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Conroy J, Allen NM, Gorman KM, Shahwan A, Ennis S, Lynch SA, King MD
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NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy.
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Clin Genet 89:E1-3 (2016)
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PMID:34185323 (DEE108)
  Authors
Spinelli E, Christensen KR, Bryant E, Schneider A, Rakotomamonjy J, Muir AM, Giannelli J, Littlejohn RO, Roeder ER, Schmidt B, Wilson WG, Marco EJ, Iwama K, Kumada S, Pisano T, Barba C, Vetro A, Brilstra EH, van Jaarsveld RH, Matsumoto N, Goldberg-Stern H, Carney PW, Andrews PI, El Achkar CM, Berkovic S, Rodan LH, McWalter K, Guerrini R, Scheffer IE, Mefford HC, Mandelstam S, Laux L, Millichap JJ, Guemez-Gamboa A, Nairn AC, Carvill GL
  Title
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
  Journal
Ann Neurol 90:274-284 (2021)
DOI:10.1002/ana.26147
Reference
PMID:34788397 (DEE109)
  Authors
Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H, Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ
  Title
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
  Journal
Brain 145:1684-1697 (2022)
DOI:10.1093/brain/awab409
Reference
PMID:35293990 (DEE110)
  Authors
Dahimene S, von Elsner L, Holling T, Mattas LS, Pickard J, Lessel D, Pilch KS, Kadurin I, Pratt WS, Zhulin IB, Dai H, Hempel M, Ruzhnikov MRZ, Kutsche K, Dolphin AC
  Title
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
  Journal
Brain 145:2721-2729 (2022)
DOI:10.1093/brain/awac081
Reference
PMID:36067010 (DEE111)
  Authors
Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Vatevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M, Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA
  Title
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
  Journal
Hum Mol Genet 32:580-594 (2023)
DOI:10.1093/hmg/ddac225
Reference
PMID:23647072 (DEE112)
  Authors
Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF
  Title
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
  Journal
Epilepsia 54:1270-81 (2013)
DOI:10.1111/epi.12201
Reference
PMID:26002053 (DEE113)
  Authors
Serajee FJ, Huq AM
  Title
Homozygous Mutation in Synaptic Vesicle Glycoprotein 2A Gene Results in Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and  Growth Retardation.
  Journal
Pediatr Neurol 52:642-6.e1 (2015)
DOI:10.1016/j.pediatrneurol.2015.02.011
Reference
PMID:36073542 (DEE114)
  Authors
Platzer K, Sticht H, Bupp C, Ganapathi M, Pereira EM, Le Guyader G, Bilan F, Henderson LB, Lemke JR, Taschenberger H, Brose N, Abou Jamra R, Wojcik SM
  Title
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
  Journal
Ann Neurol 92:958-973 (2022)
DOI:10.1002/ana.26485
Reference
PMID:38423010 (DEE115)
  Authors
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulic N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sorensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M
  Title
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
  Journal
Am J Hum Genet 111:594-613 (2024)
DOI:10.1016/j.ajhg.2024.02.005
Reference
PMID:38579670 (DEE116)
  Authors
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gomez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP
  Title
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
  Journal
Am J Hum Genet 111:729-741 (2024)
DOI:10.1016/j.ajhg.2024.03.005

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