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]
Hyperekplexia and epilepsy [DS:H02353]
  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
  nt06544  Neuroactive ligand signaling
   H00606  Early infantile epileptic encephalopathy
Pathway
hsa04020  Calcium signaling pathway
hsa04724  Glutamatergic synapse
hsa04727  GABAergic synapse
hsa04082  Neuroactive ligand signaling
Network
nt06512 Chromosome cohesion and segregation
nt06528 Calcium signaling
nt06541 Cytoskeleton in neurons
nt06544 Neuroactive ligand signaling
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]
(DEE117) SNAP25 [HSA:6616] [KO:K18211]
(DEE118) TMEM63B [HSA:55362] [KO:K21989]
(DEE119) RNU2-2 [HSA:26855] [KO:K14277]
Other DBs
ICD-11: 8A62.Y
MeSH: D013036 C567924
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 616457 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 616330 621250 621304
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
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
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Nat Genet 46:640-5 (2014)
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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 95:360-70 (2014)
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Am J Hum Genet 99:802-816 (2016)
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Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.
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Am J Hum Genet 99:1368-1376 (2016)
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PMID:28364549 (DEE68)
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Barel O, Malicdan MCV, Ben-Zeev B, Kandel J, Pri-Chen H, Stephen J, Castro IG, Metz J, Atawa O, Moshkovitz S, Ganelin E, Barshack I, Polak-Charcon S, Nass D, Marek-Yagel D, Amariglio N, Shalva N, Vilboux T, Ferreira C, Pode-Shakked B, Heimer G, Hoffmann C, Yardeni T, Nissenkorn A, Avivi C, Eyal E, Kol N, Glick Saar E, Wallace DC, Gahl WA, Rechavi G, Schrader M, Eckmann DM, Anikster Y
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Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
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Brain 140:568-581 (2017)
DOI:10.1093/brain/awx002
Reference
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
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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)
DOI:10.1016/j.ajhg.2018.09.006
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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)
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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
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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
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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
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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)
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
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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)
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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
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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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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
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Neurology 86:2171-8 (2016)
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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)
DOI:10.1016/j.ejmg.2020.103848
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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)
DOI:10.1038/s41436-020-01071-z
Reference
PMID:26235277 (DEE107)
  Authors
Conroy J, Allen NM, Gorman KM, Shahwan A, Ennis S, Lynch SA, King MD
  Title
NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy.
  Journal
Clin Genet 89:E1-3 (2016)
DOI:10.1111/cge.12648
Reference
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
Reference
PMID:25381298 (DEE117)
  Authors
Shen XM, Selcen D, Brengman J, Engel AG
  Title
Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability.
  Journal
Neurology 83:2247-55 (2014)
DOI:10.1212/WNL.0000000000001079
Reference
PMID:37421948 (DEE118)
  Authors
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stulpnagel C, Smedley D, Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R
  Title
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
  Journal
Am J Hum Genet 110:1356-1376 (2023)
DOI:10.1016/j.ajhg.2023.06.008
Reference
PMID:40210679 (DEE119)
  Authors
Greene D, De Wispelaere K, Lees J, Codina-Sola M, Jensson BO, Hales E, Katrinecz A, Nieto Molina E, Pascoal S, Pfundt R, Schot R, Sevilla Porras M, Sleutels F, Valenzuela I, Wijngaard R, Arroyo Carrera I, Atton G, Casas-Alba D, Donnelly D, Duat Rodriguez A, Fernandez Garoz B, Foulds N, Garcia-Navas Nunez D, Gonzalez Alguacil E, Jarvis J, Kant SG, Madrigal Bajo I, Martinez-Monseny AF, McKee S, Ortiz Cabrera NV, Rodriguez-Revenga Bodi L, Sariego Jamardo A, Stefansson K, Sulem P, Suri M, Van Karnebeek C, Vasudevan P, Vega Pajares AI, Carracedo A, Engelen M, Lapunzina P, Morgan NP, Morte B, Rump P, Stirrups K, Tizzano EF, Barakat TS, O'Donoghue M, Perez-Jurado LA, Freson K, Mumford AD, Turro E
  Title
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.
  Journal
Nat Genet 57:1367-1373 (2025)
DOI:10.1038/s41588-025-02159-5
LinkDB

» Japanese version

KEGG   DISEASE: Autosomal dominant intellectual developmental disorder
Entry
H00773                      Disease                                
Name
Autosomal dominant intellectual developmental disorder;
Autosomal dominant mental retardation
  Subgroup
Helsmoortel-van der Aa syndrome [DS:H02365]
Houge-Janssens syndrome (HJS) [DS:H02632]
Clark-Baraitser syndrome [DS:H02984]
Description
Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most causative genes identified so far are either located on the X chromosome or are associated with an autosomal recessive mode of inheritance. Recently, a lot of genes associated with autosomal dominant mental retardation have been identified.
Category
Mental and behavioural disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A00  Disorders of intellectual development
    H00773  Autosomal dominant intellectual developmental disorder
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06530  PI3K signaling
   H00773  Autosomal dominant intellectual developmental disorder
  nt06528  Calcium signaling
   H00773  Autosomal dominant intellectual developmental disorder
 Cellular process
  nt06523  Epigenetic regulation by Polycomb complexes
   H00773  Autosomal dominant intellectual developmental disorder
  nt06512  Chromosome cohesion and segregation
   H00773  Autosomal dominant intellectual developmental disorder
  nt06515  Regulation of kinetochore-microtubule interactions
   H00773  Autosomal dominant intellectual developmental disorder
  nt06541  Cytoskeleton in neurons
   H00773  Autosomal dominant intellectual developmental disorder
  nt06544  Neuroactive ligand signaling
   H00773  Autosomal dominant intellectual developmental disorder
Pathway
hsa04110  Cell cycle
hsa04020  Calcium signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa04724  Glutamatergic synapse
hsa04727  GABAergic synapse
hsa04082  Neuroactive ligand signaling
Network
nt06512 Chromosome cohesion and segregation
nt06515 Regulation of kinetochore-microtubule interactions
nt06523 Epigenetic regulation by Polycomb complexes
nt06528 Calcium signaling
nt06530 PI3K signaling
nt06541 Cytoskeleton in neurons
nt06544 Neuroactive ligand signaling
Gene
(MRD1) MBD5 [HSA:55777] [KO:K23219]
(MRD2) DOCK8 [HSA:81704] [KO:K21852]
(MRD3) CDH15 [HSA:1013] [KO:K06809]
(MRD4) KIRREL3 [HSA:84623] [KO:K25874]
(MRD5) SYNGAP1 [HSA:8831] [KO:K17631]
(MRD6) GRIN2B [HSA:2904] [KO:K05210]
(MRD7) DYRK1A [HSA:1859] [KO:K08825]
(MRD8) GRIN1 [HSA:2902] [KO:K05208]
(MRD9) KIF1A [HSA:547] [KO:K10392]
(MRD10) CACNG2 [HSA:10369] [KO:K04867]
(MRD11) EPB41L1 [HSA:2036] [KO:K23961]
(MRD12) ARID1B [HSA:57492] [KO:K11653]
(MRD13) DYNC1H1 [HSA:1778] [KO:K10413]
(MRD14) ARID1A [HSA:8289] [KO:K11653]
(MRD15) SMARCB1 [HSA:6598] [KO:K11648]
(MRD16) SMARCA4 [HSA:6597] [KO:K11647]
(MRD17) PACS1 [HSA:55690] [KO:K23290]
(MRD18) GATAD2B [HSA:57459] [KO:K23194]
(MRD19) CTNNB1 [HSA:1499] [KO:K02105]
(MRD20) MEF2C [HSA:4208] [KO:K04454]
(MRD21) CTCF [HSA:10664] [KO:K23195]
(MRD22) ZBTB18 [HSA:10472] [KO:K23196]
(MRD23) SETD5 [HSA:55209] [KO:K23216]
(MRD24) DEAF1 [HSA:10522] [KO:K23041]
(MRD25) AHDC1 [HSA:27245] [KO:K22592]
(MRD26) AUTS2 [HSA:26053] [KO:K23214]
(MRD27) SOX11 [HSA:6664] [KO:K09268]
(MRD29) SETBP1 [HSA:26040] [KO:K23217]
(MRD30) ZMYND11 [HSA:10771] [KO:K23218]
(MRD31) PURA [HSA:5813] [KO:K21772]
(MRD32) KAT6A [HSA:7994] [KO:K11305]
(MRD33) DPP6 [HSA:1804] [KO:K23013]
(MRD34) COL4A3BP [HSA:10087] [KO:K08283]
(MRD35/HJS1) PPP2R5D [HSA:5528] [KO:K11584]
(MRD36/HJS2) PPP2R1A [HSA:5518] [KO:K03456]
(MRD38) EEF1A2 [HSA:1917] [KO:K03231]
(MRD39) MYT1L [HSA:23040] [KO:K23193]
(MRD40) CHAMP1 [HSA:283489] [KO:K22593]
(MRD41) TBL1XR1 [HSA:79718] [KO:K04508]
(MRD42) GNB1 [HSA:2782] [KO:K04536]
(MRD43) HIVEP2 [HSA:3097] [KO:K09239]
(MRD44/63) TRIO [HSA:7204] [KO:K08810]
(MRD45) CIC [HSA:23152] [KO:K20225]
(MRD46) KCNQ5 [HSA:56479] [KO:K04930]
(MRD47) STAG1 [HSA:10274] [KO:K06671]
(MRD48) RAC1 [HSA:5879] [KO:K04392]
(MRD50) NAA15 [HSA:80155] [KO:K20792]
(MRD51) KMT5B [HSA:51111] [KO:K11429]
(MRD52) ASH1L [HSA:55870] [KO:K06101]
(MRD53) CAMK2A [HSA:815] [KO:K04515]
(MRD54) CAMK2B [HSA:816] [KO:K04515]
(MRD55) NUS1 [HSA:116150] [KO:K19177]
(MRD56) CLTC [HSA:1213] [KO:K04646]
(MRD57) TLK2 [HSA:11011] [KO:K08864]
(MRD58) SET [HSA:6418] [KO:K11290]
(MRD59) CAMK2G [HSA:818] [KO:K04515]
(MRD60) AP2M1 [HSA:1173] [KO:K11826]
(MRD61) MED13 [HSA:9969] [KO:K15164]
(MRD62) DLG4 [HSA:1742] [KO:K11828]
(MRD64) ZNF292 [HSA:23036] [KO:K26728]
(MRD65) KDM4B [HSA:23030] [KO:K06709]
(MRD66) ATP2B1 [HSA:490] [KO:K05850]
(MRD67) GRIA1 [HSA:2890] [KO:K05197]
(MRD68) KMT2B [HSA:9757] [KO:K14959]
(MRD69) LMAN2L [HSA:81562] [KO:K10083]
(MRD70) SETD2 [HSA:29072] [KO:K11423]
(MRD71) RFX7 [HSA:64864] [KO:K09175]
(MRD72) SRRM2 [HSA:23524] [KO:K13172]
(MRD73) TAF4 [HSA:6874] [KO:K03129]
(MRD74) HNRNPC [HSA:3183] [KO:K12884]
(MRD75) DHX9 [HSA:1660] [KO:K13184]
(MRD76) MARK2 [HSA:2011] [KO:K08798]
Other DBs
ICD-11: 6A00
MeSH: C566947 C567241 C567240 C567234
OMIM: 156200 614113 612580 612581 612621 613970 614254 614255 614256 614257 614562 614563 614607 614608 614609 615009 615074 615075 613443 615502 612337 615761 615828 615829 615866 616078 616083 616158 616268 616311 616351 616393 616521 616579 616944 616973 616977 617061 617600 617601 617635 617751 617787 617788 617796 617798 617799 617831 617854 618050 618106 618522 618587 618009 618793 618825 619188 619320 619910 619927 619934 617863 620157 620330 620439 620450 620688 620988 621285
Reference
PMID:19904302 (MRD1)
  Authors
Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH
  Title
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
  Journal
Eur J Hum Genet 18:436-41 (2010)
DOI:10.1038/ejhg.2009.199
Reference
PMID:18060736 (MRD2)
  Authors
Griggs BL, Ladd S, Saul RA, DuPont BR, Srivastava AK
  Title
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.
  Journal
Genomics 91:195-202 (2008)
DOI:10.1016/j.ygeno.2007.10.011
Reference
PMID:19012874 (MRD3 MRD4)
  Authors
Bhalla K, Luo Y, Buchan T, Beachem MA, Guzauskas GF, Ladd S, Bratcher SJ, Schroer RJ, Balsamo J, DuPont BR, Lilien J, Srivastava AK
  Title
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
  Journal
Am J Hum Genet 83:703-13 (2008)
DOI:10.1016/j.ajhg.2008.10.020
Reference
PMID:19196676 (MRD5)
  Authors
Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Cote M, Perreau-Linck E, Carmant L, D'Anjou G, Fombonne E, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Mouaffak F, Joober R, Mottron L, Drapeau P, Marineau C, Lafreniere RG, Lacaille JC, Rouleau GA, Michaud JL
  Title
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
  Journal
N Engl J Med 360:599-605 (2009)
DOI:10.1056/NEJMoa0805392
Reference
PMID:20890276 (MRD6)
  Authors
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortum F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tonnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K
  Title
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
  Journal
Nat Genet 42:1021-6 (2010)
DOI:10.1038/ng.677
Reference
PMID:21294719 (MRD7)
  Authors
van Bon BW, Hoischen A, Hehir-Kwa J, de Brouwer AP, Ruivenkamp C, Gijsbers AC, Marcelis CL, de Leeuw N, Veltman JA, Brunner HG, de Vries BB
  Title
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.
  Journal
Clin Genet 79:296-9 (2011)
DOI:10.1111/j.1399-0004.2010.01544.x
Reference
PMID:21376300 (MRD8, MRD9, MRD10, MRD11)
  Authors
Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O, Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafreniere RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL
  Title
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
  Journal
Am J Hum Genet 88:306-16 (2011)
DOI:10.1016/j.ajhg.2011.02.001
Reference
PMID:22426308 (MRD12, MRD14, MRD15, MRD16)
  Authors
Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
  Title
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
  Journal
Nat Genet 44:376-8 (2012)
DOI:10.1038/ng.2219
Reference
PMID:22368300 (MRD13)
  Authors
Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T
  Title
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
  Journal
J Med Genet 49:179-83 (2012)
DOI:10.1136/jmedgenet-2011-100542
Reference
PMID:23159249 (MRD17)
  Authors
Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG
  Title
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
  Journal
Am J Hum Genet 91:1122-7 (2012)
DOI:10.1016/j.ajhg.2012.10.013
Reference
PMID:23644463 (MRD18)
  Authors
Willemsen MH, Nijhof B, Fenckova M, Nillesen WM, Bongers EM, Castells-Nobau A, Asztalos L, Viragh E, van Bon BW, Tezel E, Veltman JA, Brunner HG, de Vries BB, de Ligt J, Yntema HG, van Bokhoven H, Isidor B, Le Caignec C, Lorino E, Asztalos Z, Koolen DA, Vissers LE, Schenck A, Kleefstra T
  Title
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.
  Journal
J Med Genet 50:507-14 (2013)
DOI:10.1136/jmedgenet-2012-101490
Reference
PMID:23033978 (MRD19 MRD67)
  Authors
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE
  Title
Diagnostic exome sequencing in persons with severe intellectual disability.
  Journal
N Engl J Med 367:1921-9 (2012)
DOI:10.1056/NEJMoa1206524
Reference
PMID:20513142 (MRD20)
  Authors
Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV, Ekici AB, Reis A, Rauch A
  Title
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
  Journal
Hum Mutat 31:722-33 (2010)
DOI:10.1002/humu.21253
Reference
PMID:23746550 (MRD21)
  Authors
Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C
  Title
De novo mutations in the genome organizer CTCF cause intellectual disability.
  Journal
Am J Hum Genet 93:124-31 (2013)
DOI:10.1016/j.ajhg.2013.05.007
Reference
PMID:21800092 (MRD22)
  Authors
Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG
  Title
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
  Journal
Hum Genet 131:145-56 (2012)
DOI:10.1007/s00439-011-1073-y
Reference
PMID:24680889 (MRD23)
  Authors
Grozeva D, Carss K, Spasic-Boskovic O, Parker MJ, Archer H, Firth HV, Park SM, Canham N, Holder SE, Wilson M, Hackett A, Field M, Floyd JA, Hurles M, Raymond FL
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De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
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Am J Hum Genet 94:618-24 (2014)
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PMID:21076407 (MRD24)
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Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA
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A de novo paradigm for mental retardation.
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Nat Genet 42:1109-12 (2010)
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PMID:24791903 (MRD25)
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Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA
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De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
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Am J Hum Genet 94:784-9 (2014)
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PMID:23332918 (MRD26)
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Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA
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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
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Am J Hum Genet 92:210-20 (2013)
DOI:10.1016/j.ajhg.2012.12.011
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PMID:24886874 (MRD27)
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Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N
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De novo SOX11 mutations cause Coffin-Siris syndrome.
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Nat Commun 5:4011 (2014)
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PMID:25217958 (MRD29 MRD30)
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Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gecz J, de Vries BB, Romano C, Eichler EE
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Refining analyses of copy number variation identifies specific genes associated with developmental delay.
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Nat Genet 46:1063-71 (2014)
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PMID:25439098 (MRD31)
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Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F
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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
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Am J Hum Genet 95:579-83 (2014)
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PMID:25728777 (MRD32)
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Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A
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Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
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Am J Hum Genet 96:507-13 (2015)
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PMID:23832105 (MRD33)
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Liao C, Fu F, Li R, Yang WQ, Liao HY, Yan JR, Li J, Li SY, Yang X, Li DZ
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Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation.
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Eur J Med Genet 56:484-9 (2013)
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PMID:25533962 (MRD34 MRD35 MRD36 MRD40)
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Large-scale discovery of novel genetic causes of developmental disorders.
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Nature 519:223-8 (2015)
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PMID:24697219 (MRD38)
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Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusaki Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N, Miyake N
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De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
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Clin Genet 87:356-61 (2015)
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PMID:25232846 (MRD39)
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De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Bena F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tumer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B
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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
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Genet Med 17:460-6 (2015)
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PMID:25102098 (MRD41)
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Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N
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A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
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J Hum Genet 59:581-3 (2014)
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PMID:27108799 (MRD42)
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Petrovski S, Kury S, Myers CT, Anyane-Yeboa K, Cogne B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, Rosen AB, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bezieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB
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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
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Am J Hum Genet 98:1001-10 (2016)
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PMID:23020937 (MRD43)
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Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Ropke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schrock E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
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Lancet 380:1674-82 (2012)
DOI:10.1016/S0140-6736(12)61480-9
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PMID:26721934 (MRD44)
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Ba W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, Bosch DG, De Leeuw N, Pfundt R, Gilissen C, De Vries PF, Veltman JA, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Nadif Kasri N, De Vries BB
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TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
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Hum Mol Genet 25:892-902 (2016)
DOI:10.1093/hmg/ddv618
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PMID:28288114 (MRD45)
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Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY
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Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.
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Nat Genet 49:527-536 (2017)
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PMID:28669405 (MRD46)
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Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R, Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T
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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
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Am J Hum Genet 101:65-74 (2017)
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PMID:28119487 (MRD47)
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Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gerard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivie H, Park SM, Rauch A, Revencu N, Riviere JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L
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STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
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J Med Genet 54:479-488 (2017)
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PMID:28886345 (MRD48)
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Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, Cohn R, Chitayat D, Millard TH, Katsanis N, Brunner HG, Banka S
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RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
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Am J Hum Genet 101:466-477 (2017)
DOI:10.1016/j.ajhg.2017.08.007
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PMID:27479843 (MRD49 MRD57 MRD62)
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Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Lohner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C
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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
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Nat Neurosci 19:1194-6 (2016)
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PMID:28191889 (MRD50 MRD51 MRD52)
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Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjold M, Schenck A, Bernier RA, Eichler EE
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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
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Nat Genet 49:515-526 (2017)
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Reference
PMID:29100089 (MRD53 MRD54)
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Kury S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denomme-Pichon AS, Lesca G, Sellars EA, Berg J, Carre W, Busk OL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla OL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogne B, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bezieau S, Odent S, Elgersma Y, Mercier S
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
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Am J Hum Genet 101:768-788 (2017)
DOI:10.1016/j.ajhg.2017.10.003
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PMID:29100083 (MRD55 MRD56)
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Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Ounap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafreniere RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
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Am J Hum Genet 101:664-685 (2017)
DOI:10.1016/j.ajhg.2017.09.008
Reference
PMID:29688601 (MRD58)
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Stevens SJC, van der Schoot V, Leduc MS, Rinne T, Lalani SR, Weiss MM, van Hagen JM, Lachmeijer AMA, Stockler-Ipsiroglu SG, Lehman A, Brunner HG
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De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with  nonsyndromic intellectual disability.
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Hum Mutat 39:1014-1023 (2018)
DOI:10.1002/humu.23541
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PMID:30184290 (MRD59)
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Proietti Onori M, Koopal B, Everman DB, Worthington JD, Jones JR, Ploeg MA, Mientjes E, van Bon BW, Kleefstra T, Schulman H, Kushner SA, Kury S, Elgersma Y, van Woerden GM
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The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.
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Hum Mutat 39:2008-2024 (2018)
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PMID:31104773 (MRD60)
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Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Humpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Sterbova K, Hammer TB, Moller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG
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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
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Am J Hum Genet 104:1060-1072 (2019)
DOI:10.1016/j.ajhg.2019.04.001
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PMID:29740699 (MRD61)
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Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM
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De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
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Hum Genet 137:375-388 (2018)
DOI:10.1007/s00439-018-1887-y
Reference
PMID:32109419 (MRD63)
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Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogne B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gerard M, Putoux A, Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D
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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
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Am J Hum Genet 106:338-355 (2020)
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PMID:31723249 (MRD64)
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Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Genevieve D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Eichler EE, Vincent JB, Bamshad MJ
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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
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Genet Med 22:538-546 (2020)
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PMID:33232677 (MRD65)
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Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB
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Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
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Am J Hum Genet 107:1170-1177 (2020)
DOI:10.1016/j.ajhg.2020.11.001
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PMID:35358416 (MRD66)
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Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Abou Jamra R, Oppermann H
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De novo variants in ATP2B1 lead to neurodevelopmental delay.
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Am J Hum Genet 109:944-952 (2022)
DOI:10.1016/j.ajhg.2022.03.009
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PMID:29276005 (MRD68)
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Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK, Banka S
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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
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Am J Hum Genet 102:175-187 (2018)
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PMID:31020005 (MRD69)
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Alkhater RA, Wang P, Ruggieri A, Israelian L, Walker S, Scherer SW, Smith ML, Minassian BA
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Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy.
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Ann Clin Transl Neurol 6:807-811 (2019)
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PMID:32710489 (MRD70)
  Authors
Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Belanger SA, Lohner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J
  Title
Genotype-phenotype correlation at codon 1740 of SETD2.
  Journal
Am J Med Genet A 182:2037-2048 (2020)
DOI:10.1002/ajmg.a.61724
Reference
PMID:33658631 (MRD71)
  Authors
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Kury S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW
  Title
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and  dysregulated behavior.
  Journal
Genet Med 23:1028-1040 (2021)
DOI:10.1038/s41436-021-01114-z
Reference
PMID:35567594 (MRD72)
  Authors
Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denomme-Pichon AS, Philippe C, Bezieau S, Cogne B
  Title
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
  Journal
Genet Med 24:1774-1780 (2022)
DOI:10.1016/j.gim.2022.04.011
Reference
PMID:35904126 (MRD73)
  Authors
Janssen BDE, van den Boogaard MH, Lichtenbelt K, Seaby EG, Stals K, Ellard S, Newbury-Ecob R, Dixit A, Roht L, Pajusalu S, Ounap K, Firth HV, Buckley M, Wilson M, Roscioli T, Tidwell T, Mao R, Ennis S, Holwerda SJ, van Gassen K, van Jaarsveld RH
  Title
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
  Journal
Hum Mutat 43:1844-1851 (2022)
DOI:10.1002/humu.24444
Reference
PMID:37541189 (MRD74)
  Authors
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D, Elgersma Y, van Esbroeck ACM
  Title
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
  Journal
Am J Hum Genet 110:1414-1435 (2023)
DOI:10.1016/j.ajhg.2023.07.005
Reference
PMID:37369308 (MRD75)
  Authors
Yamada M, Nitta Y, Uehara T, Suzuki H, Miya F, Takenouchi T, Tamura M, Ayabe S, Yoshiki A, Maeno A, Saga Y, Furuse T, Yamada I, Okamoto N, Kosaki K, Sugie A
  Title
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.
  Journal
Eur J Med Genet 66:104804 (2023)
DOI:10.1016/j.ejmg.2023.104804
Reference
PMID:39419027 (MRD76)
  Authors
Gong M, Li J, Qin Z, Machado Bressan Wilke MV, Liu Y, Li Q, Liu H, Liang C, Morales-Rosado JA, Cohen ASA, Hughes SS, Sullivan BR, Waddell V, van den Boogaard MH, van Jaarsveld RH, van Binsbergen E, van Gassen KL, Wang T, Hiatt SM, Amaral MD, Kelley WV, Zhao J, Feng W, Ren C, Yu Y, Boczek NJ, Ferber MJ, Lahner C, Elliott S, Ruan Y, Mignot C, Keren B, Xie H, Wang X, Popp B, Zweier C, Piard J, Coubes C, Mau-Them FT, Safraou H, Innes AM, Gauthier J, Michaud JL, Koboldt DC, Sylvie O, Willems M, Tan WH, Cogne B, Rieubland C, Braun D, McLean SD, Platzer K, Zacher P, Oppermann H, Evenepoel L, Blanc P, El Khattabi L, Haque N, Dsouza NR, Zimmermann MT, Urrutia R, Klee EW, Shen Y, Du H, Rappaport L, Liu CM, Chen X
  Title
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/beta-catenin signaling pathway.
  Journal
Am J Hum Genet 111:2392-2410 (2024)
DOI:10.1016/j.ajhg.2024.09.006
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