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 [BR:br08402]
 Nervous system diseases
  Epilepsy
   H00606  Early infantile epileptic encephalopathy
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
Related
pathway
hsa04723  Retrograde endocannabinoid signaling
hsa04727  GABAergic synapse
hsa04724  Glutamatergic synapse
hsa04728  Dopaminergic synapse
hsa04726  Serotonergic synapse
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]
(DEE31) 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]
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 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
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 (ARX)
  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 (CDKL5)
  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 (SLC25A22)
  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 (STXBP1)
  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 (SPTAN1)
  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 (SCN1A)
  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 (KCNQ2)
  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 (ARHGEF9)
  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 (PCDH19)
  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 (PNKP)
  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 (SCN2A)
  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 (PLCB1)
  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 (SCN8A)
  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 (KCNT1)
  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 (ST3GAL3)
  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 (TBC1D24)
  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 (GNAO1)
  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 (SZT2)
  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 (GABRA1)
  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 (NECAP1)
  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 (SLC35A2)
  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 (DOCK7)
  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 (HCN1)
  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 (SLC13A5)
  Authors
Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Juge C, Roubertie A, Heron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Riviere JB
  Title
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
  Journal
Am J Hum Genet 95:113-20 (2014)
DOI:10.1016/j.ajhg.2014.06.006
Reference
PMID:25164438 (KCNB1)
  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:24272827 (GRIN2B)
  Authors
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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 96:675-81 (2015)
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Am J Hum Genet 96:682-90 (2015)
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Am J Hum Genet 95:360-70 (2014)
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Am J Hum Genet 99:695-703 (2016)
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Ann Neurol 86:821-831 (2019)
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PMID:27616483 (GRIN2D)
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Am J Hum Genet 99:802-816 (2016)
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PMID:27164707 (FGF12)
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Neurology 86:2162-70 (2016)
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PMID:27889060 (AP3B2)
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Am J Hum Genet 99:1368-1376 (2016)
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Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.
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Am J Hum Genet 99:1359-1367 (2016)
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PMID:28777935 (YWHAG)
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PMID:29069600 (KCNT2)
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Am J Hum Genet 101:664-685 (2017)
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Am J Hum Genet 102:321-329 (2018)
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PMID:27066583 (ADAM22)
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PMID:29466837 (SCN3A)
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Mutations in SCN3A cause early infantile epileptic encephalopathy.
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Ann Neurol 83:703-717 (2018)
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Eur J Hum Genet 25:889-893 (2017)
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PMID:29276004 (RHOBTB2)
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Am J Hum Genet 102:44-57 (2018)
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Ann Neurol 83:794-806 (2018)
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Am J Hum Genet 102:995-1007 (2018)
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Brain 140:568-581 (2017)
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PMID:30343943 (CACNA1E)
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
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Am J Hum Genet 103:666-678 (2018)
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PMID:30256902 (PHACTR1)
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De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.
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Brain 141:3098-3114 (2018)
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PMID:30575854 (GLS)
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JAMA Neurol 76:342-350 (2019)
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Am J Hum Genet 104:179-185 (2019)
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PMID:27864268 (GABRG2)
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De novo GABRG2 mutations associated with epileptic encephalopathies.
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Brain 140:49-67 (2017)
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PMID:29915213 (PARS2)
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PMID:31031012 (ACTL6B)
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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)
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PMID:32588908 (PIGQ)
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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)
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PMID:29961870 (GABRA2 GABRA5)
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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)
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PMID:31256876 (PIGB)
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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)
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PMID:31688942 (DMXL2)
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Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
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Brain 142:3876-3891 (2019)
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PMID:31422819 (GOT2)
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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)
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PMID:31820119 (UGP2)
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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)
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PMID:32001716 (UGDH)
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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)
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PMID:26358754 (SMC1A)
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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)
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PMID:32427860 (DALRD3)
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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)
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PMID:32330417 (CDK19)
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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)
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PMID:31538237 (MDH1)
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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)
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PMID:32282878 (GAD1)
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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)
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PMID:33245860 (FGF13)
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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)
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PMID:28942967 (PPP3CA)
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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)
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PMID:27789573 (GABRB2)
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A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.
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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)
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PMID:30269814 (PIGS)
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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)
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PMID:31675180 (NSF)
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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)
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PMID:33131106 (CELF2)
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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)
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PMID:33880529 (ATP1A2 ATP1A3)
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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
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Brain 144:1435-1450 (2021)
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PMID:30160831 (FBXO28)
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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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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
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PMID:34605855 (SLC38A3)
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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
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Brain 145:909-924 (2022)
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PMID:31972370 (KCNC2)
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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 (ATP6V0A1)
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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)
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PMID:33999436 (HID1)
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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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