KEGG   DISEASE: Early infantile epileptic encephalopathyHelp
Entry
H00606                      Disease                                

Name
Early infantile epileptic encephalopathy;
Ohtahara syndrome
Description
Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara syndrome,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
Congenital disorder; Epilepsy
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00606  Early infantile epileptic encephalopathy
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G40-G47  Episodic and paroxysmal disorders
   G40  Epilepsy and recurrent seizures
    H00606  Early infantile epileptic encephalopathy
BRITE hierarchy
Pathway
Tight junction
Gap junction
N-glycan biosynthesis
Synaptic vesicle cycle
Cholinergic synapse
Glycosphingolipid biosynthesis - lacto and neolacto series
Gene
(EIEE1) ARX [HSA:170302] [KO:K09452]
(EIEE2) CDKL5 [HSA:6792] [KO:K08824]
(EIEE3) SLC25A22 [HSA:79751] [KO:K15107]
(EIEE4) STXBP1 [HSA:6812] [KO:K15292]
(EIEE5) SPTAN1 [HSA:6709] [KO:K06114]
(EIEE7) KCNQ2 [HSA:3785] [KO:K04927]
(EIEE8) ARHGEF9 [HSA:23229] [KO:K20686]
(EIEE9) PCDH19 [HSA:57526] [KO:K16499]
(EIEE10) PNKP [HSA:11284] [KO:K08073]
(EIEE11) SCN2A1 [HSA:6326] [KO:K04834]
(EIEE12) PLCB1 [HSA:23236] [KO:K05858]
(EIEE13) SCN8A [HSA:6334] [KO:K04840]
(EIEE15) ST3GAL3 [HSA:6487] [KO:K00781]
(EIEE16) TBC1D24 [HSA:57465]
(EIEE17) GNAO1 [HSA:2775] [KO:K04534]
(EIEE18) SZT2 [HSA:23334]
(EIEE19) GABRA1 [HSA:2554] [KO:K05175]
(EIEE21) NECAP1 [HSA:25977] [KO:K20069]
(EIEE22) SLC35A2 [HSA:7355] [KO:K15272]
(EIEE23) DOCK7 [HSA:85440]
(EIEE24) HCN1 [HSA:348980] [KO:K04954]
(EIEE25) SLC13A5 [HSA:284111] [KO:K14445]
(EIEE26) KCNB1 [HSA:3745] [KO:K04885]
(EIEE27) GRIN2B [HSA:2904] [KO:K05210]
(EIEE28) WWOX [HSA:51741] [KO:K19329]
(EIEE29) AARS [HSA:16] [KO:K01872]
(EIEE30) SIK1 [HSA:150094] [KO:K19008]
(EIEE31) DNM1 [HSA:1759] [KO:K01528]
(EIEE32) KCNA2 [HSA:3737] [KO:K04875]
(EIEE33) EEF1A2 [HSA:1917] [KO:K03231]
(EIEE34) SLC12A5 [HSA:57468] [KO:K14427]
(EIEE35) ITPA [HSA:3704] [KO:K01519]
(EIEE36) ALG13 [HSA:79868] [KO:K07432]
(EIEE37) FRRS1L [HSA:23732]
(EIEE38) ARV1 [HSA:64801]
(EIEE40) GUF1 [HSA:60558] [KO:K21594]
(EIEE41) SLC1A2 [HSA:6506] [KO:K05613]
(EIEE42) CACNA1A [HSA:773] [KO:K04344]
(EIEE43) GABRB3 [HSA:2562] [KO:K05181]
(EIEE44) UBA5 [HSA:79876] [KO:K12164]
(EIEE45) GABRB1 [HSA:2560] [KO:K05181]
(EIEE46) GRIN2D [HSA:2906] [KO:K05212]
(EIEE47) FGF12 [HSA:2257] [KO:K04358]
(EIEE48) AP3B2 [HSA:8120] [KO:K12397]
(EIEE49) DENND5A [HSA:23258] [KO:K20164]
(EIEE51) MDH2 [HSA:4191] [KO:K00026]
(Lennox-Gastaut type) MAPK10 [HSA:5602] [KO:K04440]
Other DBs
Reference
  Authors
Ohtahara S, Yamatogi Y
  Title
Epileptic encephalopathies in early infancy with suppression-burst.
  Journal
J Clin Neurophysiol 20:398-407 (2003)
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
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
  Authors
Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Korner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ
  Title
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
  Journal
Hum Mol Genet 21:4151-61 (2012)
DOI:10.1093/hmg/dds123
Reference
  Authors
Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR
  Title
De novo mutations in epileptic encephalopathies.
  Journal
Nature 501:217-21 (2013)
DOI:10.1038/nature12439
Reference
  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
  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:26517219 (gene)
  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
PMID:26597089 (gene)
  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:27476654 (gene)
  Authors
Myers CT, McMahon JM, Schneider AL, Petrovski S
  Title
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
  Journal
Am J Hum Genet 99:287-98 (2016)
DOI:10.1016/j.ajhg.2016.06.003
Reference
PMID:25164438 (gene)
  Authors
Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA
  Title
De novo KCNB1 mutations in epileptic encephalopathy.
  Journal
Ann Neurol 76:529-40 (2014)
DOI:10.1002/ana.24263
Reference
PMID:26224535 (gene)
  Authors
Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss MM, Salomons GS, Abbink TE, Waisfisz Q, van der Knaap MS
  Title
Recessive ITPA mutations cause an early infantile encephalopathy.
  Journal
Ann Neurol 78:649-58 (2015)
DOI:10.1002/ana.24496
Reference
PMID:27239025 (gene)
  Authors
Shaheen R, Al Tala S, Ewida N, Abouelhoda M, Alkuraya FS
  Title
Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L.
  Journal
Clin Genet 90:282-3 (2016)
DOI:10.1111/cge.12796
Reference
PMID:27270415 (gene)
  Authors
Palmer EE, Jarrett KE, Sachdev RK, Al Zahrani F, Hashem MO, Ibrahim N, Sampaio H, Kandula T, Macintosh R, Gupta R, Conlon DM, Billheimer JT, Rader DJ, Funato K, Walkey CJ, Lee CS, Loo C, Brammah S, Elakis G, Zhu Y, Buckley M, Kirk EP, Bye A, Alkuraya FS, Roscioli T, Lagor WR
  Title
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
  Journal
Hum Mol Genet 25:3042-3054 (2016)
DOI:10.1093/hmg/ddw157
Reference
PMID:26486472 (gene)
  Authors
Alfaiz AA, Muller V, Boutry-Kryza N, Ville D, Guex N, de Bellescize J, Rivier C, Labalme A, des Portes V, Edery P, Till M, Xenarios I, Sanlaville D, Herrmann JM, Lesca G, Reymond A
  Title
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.
  Journal
Eur J Hum Genet 24:1001-8 (2016)
DOI:10.1038/ejhg.2015.227
Reference
PMID:27545681 (gene)
  Authors
Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denomme AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H, Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D
  Title
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result  in Early-Onset Encephalopathy.
  Journal
Am J Hum Genet 99:695-703 (2016)
DOI:10.1016/j.ajhg.2016.06.030
Reference
PMID:27616483 (gene)
  Authors
Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stulpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hortnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ
  Title
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
  Journal
Am J Hum Genet 99:802-816 (2016)
DOI:10.1016/j.ajhg.2016.07.013
Reference
PMID:27164707 (gene)
  Authors
Siekierska A, Isrie M, Liu Y, Scheldeman C, Vanthillo N, Lagae L, de Witte PA, Van Esch H, Goldfarb M, Buyse GM
  Title
Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.
  Journal
Neurology 86:2162-70 (2016)
DOI:10.1212/WNL.0000000000002752
Reference
PMID:27889060 (gene)
  Authors
Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Riviere JB, Faivre L, Thevenon J
  Title
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2  Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
  Journal
Am J Hum Genet 99:1368-1376 (2016)
DOI:10.1016/j.ajhg.2016.10.009
Reference
PMID:27866705 (gene)
  Authors
Han C, Alkhater R, Froukh T, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R, Minassian BA, McPherson PS
  Title
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.
  Journal
Am J Hum Genet 99:1359-1367 (2016)
DOI:10.1016/j.ajhg.2016.10.006
Reference
PMID:27989324 (gene)
  Authors
Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, Francois B, Genin EC, Fragaki K, Volker-Touw CL, Vasnier C, Serre V, van Gassen KL, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MG, Jans JJ, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rotig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V
  Title
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
  Journal
Am J Hum Genet 100:151-159 (2017)
DOI:10.1016/j.ajhg.2016.11.014

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