Details of Disease

General Information of Disease (ID: DISLIAU9)

Disease Name West syndrome
Synonyms
West's syndrome; tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG; X-linked infantile spasms; Infantile spasms syndrome; X-linked infantile spasm syndrome; intellectual disability-hypsarrhythmia syndrome; infantile spasms
Definition
West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.|Editor note: check placement of OMIM IDs and EIEE subtypes
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS9KIBQ: Infancy electroclinical syndrome
DISRFC3B: Neonatal/infantile epilepsy syndrome
DISLIAU9: West syndrome
Disease Identifiers
MONDO ID
MONDO_0018097
MESH ID
D013036
UMLS CUI
C0037769
MedGen ID
11519
Orphanet ID
3451
SNOMED CT ID
28055006

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 2 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Corticotropin DMP9TWZ Approved NA [1]
Vigabatrin DMYT0OG Approved Small molecular drug [2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 58 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WDR45 OTTN49JK Supportive Autosomal dominant [3]
BRWD3 OT3BM9B0 Limited Autosomal dominant [36]
ND1 OTCLGIXV Limited Genetic Variation [37]
TSC2 OT47LWI9 Limited Genetic Variation [38]
ARX OTBGYH25 Supportive Autosomal dominant [39]
CDKL5 OTGL5HRV Supportive Autosomal dominant [40]
CNPY3 OTAXC9CB Supportive Autosomal dominant [41]
GRIN2B OT0GODXX Supportive Autosomal dominant [6]
GUF1 OTUV5EFT Supportive Autosomal dominant [42]
NTRK2 OTD557PU Supportive Autosomal dominant [7]
PHACTR1 OTAMPX9V Supportive Autosomal dominant [43]
PIGA OT51UWUR Supportive Autosomal dominant [44]
PLCB1 OT9HYT7A Supportive Autosomal dominant [8]
SCN2A OTUSYE4Z Supportive Autosomal dominant [9]
SIK1 OT6FCHME Supportive Autosomal dominant [10]
SPTAN1 OT6VY3A3 Supportive Autosomal dominant [15]
ST3GAL3 OTOORKUE Supportive Autosomal dominant [45]
STXBP1 OTRYA8C3 Supportive Autosomal dominant [46]
FOXG1 OTAW57J4 moderate Genetic Variation [47]
MAGI2 OTXDDKZS moderate Biomarker [48]
TIMM50 OTWJNUQL moderate Genetic Variation [49]
AARS1 OTW8D813 Strong Biomarker [50]
ARFGEF2 OTM3CQZT Strong Genetic Variation [51]
ATG10 OTVRPC5X Strong Biomarker [52]
BTD OTJYTQ69 Strong Altered Expression [53]
CFL1 OTT6D5MH Strong Biomarker [54]
CHD2 OTRKL6YC Strong Genetic Variation [55]
DEPDC5 OTE70JLY Strong Biomarker [50]
DLX5 OTEEFBEU Strong Genetic Variation [56]
DPYS OTLTUIVL Strong Altered Expression [57]
FGF12 OTBM9QIO Strong Genetic Variation [58]
GABRB3 OT80C3D4 Strong Genetic Variation [59]
GNB1 OTLL7L74 Strong Genetic Variation [60]
IL2RG OTRZ3OMY Strong Genetic Variation [61]
KCNAB2 OTH115IE Strong Biomarker [62]
LAMA2 OTFROQWE Strong Genetic Variation [63]
MBD5 OTFHT4MO Strong Genetic Variation [64]
NDP OTGDJ4US Strong Genetic Variation [65]
NR2F1 OTGWZWYL Strong Genetic Variation [66]
PAFAH1B1 OT9T2TCJ Strong Genetic Variation [67]
PARS2 OTMBBH7K Strong Genetic Variation [68]
PDCD6IP OTS8T6A7 Strong Genetic Variation [69]
PDHA1 OTGEU8IK Strong Genetic Variation [70]
PPP1CB OTYFTYFR Strong Biomarker [71]
RARS2 OT3WLAD8 Strong Genetic Variation [72]
SKI OT4KJ8F6 Strong Biomarker [73]
SORCS3 OT4VOMBC Strong Genetic Variation [74]
SPTBN2 OTDMJ75N Strong Biomarker [75]
TBC1D24 OTKZUSMD Strong Genetic Variation [76]
TBCD OTS4JKNQ Strong Biomarker [77]
TCOF1 OT4BOYTM Strong Biomarker [78]
TLK2 OTZ09CG8 Strong Genetic Variation [79]
TSC1 OTFF4YZ7 Strong Genetic Variation [80]
ALG13 OTOH9PMY Definitive Genetic Variation [81]
CASK OT8EF7ZF Definitive Biomarker [82]
HNRNPU OTLQN1E2 Definitive Genetic Variation [83]
IARS2 OTDX4SCA Definitive Biomarker [84]
PIGW OTT9SMTF Definitive Genetic Variation [85]
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⏷ Show the Full List of 58 DOT(s)
This Disease Is Related to 29 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CRH TTA7YIZ Limited Altered Expression [4]
SCN2A TTLJTUF Limited Genetic Variation [5]
GRIN2B TTN9D8E Supportive Autosomal dominant [6]
NTRK2 TTKN7QR Supportive Autosomal dominant [7]
PLCB1 TTLPGU7 Supportive Autosomal dominant [8]
SCN2A TTLJTUF Supportive Autosomal dominant [9]
SIK1 TT1H6LC Supportive Autosomal dominant [10]
AIMP2 TTXWHGF moderate Biomarker [11]
DNM1 TTE3JW9 moderate Genetic Variation [12]
GRIN2B TTN9D8E moderate Genetic Variation [13]
KCNQ2 TTPXI3S moderate Genetic Variation [14]
PLCB1 TTLPGU7 moderate GermlineCausalMutation [15]
POMC TT21AKM moderate Biomarker [16]
SIK1 TT1H6LC moderate GermlineCausalMutation [10]
ABAT TTT2LD9 Strong Biomarker [17]
CACNA2D1 TTFK1JQ Strong Biomarker [18]
CSNK1E TTA8PLI Strong Genetic Variation [19]
GABRA1 TT1MPAY Strong Genetic Variation [20]
GABRB2 TTZA1NY Strong Genetic Variation [21]
GRIN1 TTLD29N Strong Genetic Variation [22]
HSD17B4 TTL1WGS Strong Biomarker [23]
KCNJ11 TT329V4 Strong Genetic Variation [24]
KCNJ6 TTTIBVP Strong Altered Expression [25]
KCNT1 TTGJFK1 Strong Biomarker [26]
KCNT2 TTLU5FO Strong Genetic Variation [27]
MC2R TTPWFDX Strong Altered Expression [28]
NTRK2 TTKN7QR Strong GermlineCausalMutation [7]
SCN1A TTANOZH Strong Genetic Variation [29]
SCN3A TTAXZ0K Strong Genetic Variation [30]
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⏷ Show the Full List of 29 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC1A4 DTC54PX Strong Genetic Variation [31]
SLC35A2 DT0567K Definitive Genetic Variation [32]
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This Disease Is Related to 3 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
FARS2 DE0WGR8 Strong Biomarker [33]
PMM2 DEBRX3L Strong Biomarker [34]
PNPO DE3Z1RA Strong Genetic Variation [35]
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References

1 Corticotropin FDA Label
2 Vigabatrin FDA Label
3 WDR45 mutations in three male patients with West syndrome. J Hum Genet. 2016 Jul;61(7):653-61. doi: 10.1038/jhg.2016.27. Epub 2016 Mar 31.
4 Upregulations of CRH and CRHR1 in the Epileptogenic Tissues of Patients with Intractable Infantile Spasms.CNS Neurosci Ther. 2017 Jan;23(1):57-68. doi: 10.1111/cns.12598. Epub 2016 Aug 18.
5 Ketogenic diet as a successful early treatment modality for SCN2A mutation.Brain Dev. 2019 Apr;41(4):389-391. doi: 10.1016/j.braindev.2018.10.015. Epub 2018 Nov 8.
6 GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol. 2014 Jan;75(1):147-54. doi: 10.1002/ana.24073. Epub 2014 Jan 2.
7 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.
8 Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. Brain. 2010 Oct;133(10):2964-70. doi: 10.1093/brain/awq238. Epub 2010 Sep 9.
9 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology. 2013 Sep 10;81(11):992-8. doi: 10.1212/WNL.0b013e3182a43e57. Epub 2013 Aug 9.
10 De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015 Apr 2;96(4):682-90. doi: 10.1016/j.ajhg.2015.02.013.
11 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016 Sep;18(9):898-905. doi: 10.1038/gim.2015.186. Epub 2016 Jan 21.
12 Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy.PLoS Genet. 2015 Jun 30;11(6):e1005347. doi: 10.1371/journal.pgen.1005347. eCollection 2015 Jun.
13 GRIN2B gain of function mutations are sensitive to radiprodil, a negative allosteric modulator of GluN2B-containing NMDA receptors.Neuropharmacology. 2017 Sep 1;123:322-331. doi: 10.1016/j.neuropharm.2017.05.017. Epub 2017 May 19.
14 Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy.Epilepsy Res. 2018 Mar;141:48-55. doi: 10.1016/j.eplepsyres.2018.02.003. Epub 2018 Feb 12.
15 Genes of early-onset epileptic encephalopathies: from genotype to phenotype. Pediatr Neurol. 2012 Jan;46(1):24-31. doi: 10.1016/j.pediatrneurol.2011.11.003.
16 Incidence of Hypertension Among Children Treated With Adrenocorticotropic Hormone (ACTH) or Prednisolone for Infantile Spasms.J Child Neurol. 2020 Mar;35(3):215-220. doi: 10.1177/0883073819886244. Epub 2019 Nov 26.
17 Inflammation in Epileptic Encephalopathies.Adv Protein Chem Struct Biol. 2017;108:59-84. doi: 10.1016/bs.apcsb.2017.01.005. Epub 2017 Feb 28.
18 Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.Hum Genet. 2015 Jun;134(6):649-58. doi: 10.1007/s00439-015-1553-6. Epub 2015 Apr 16.
19 A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy.Hum Mutat. 2019 Mar;40(3):281-287. doi: 10.1002/humu.23690. Epub 2018 Dec 8.
20 De novo GABRA1 mutations in Ohtahara and West syndromes.Epilepsia. 2016 Apr;57(4):566-73. doi: 10.1111/epi.13344. Epub 2016 Feb 25.
21 Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy.Prog Brain Res. 2014;213:55-85. doi: 10.1016/B978-0-444-63326-2.00003-X.
22 A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms.Dev Med Child Neurol. 2010 Nov;52(11):1028-32. doi: 10.1111/j.1469-8749.2010.03746.x. Epub 2010 Aug 16.
23 D-bifunctional protein deficiency associated with drug resistant infantile spasms.Brain Dev. 2007 Jan;29(1):51-4. doi: 10.1016/j.braindev.2006.06.004. Epub 2006 Aug 21.
24 Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.J Child Neurol. 2007 Sep;22(9):1147-50. doi: 10.1177/0883073807306272.
25 Kcnj6(GIRK2) trisomy is not sufficient for conferring the susceptibility to infantile spasms seen in the Ts65Dn mouse model of down syndrome.Epilepsy Res. 2018 Sep;145:82-88. doi: 10.1016/j.eplepsyres.2018.06.006. Epub 2018 Jun 12.
26 De novo KCNT1 mutations in early-onset epileptic encephalopathy.Epilepsia. 2015 Sep;56(9):e121-8. doi: 10.1111/epi.13072. Epub 2015 Jul 3.
27 De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.Ann Neurol. 2018 Jun;83(6):1198-1204. doi: 10.1002/ana.25248.
28 ACTH receptor (MC2R) promoter variants associated with infantile spasms modulate MC2R expression and responsiveness to ACTH.Pharmacogenet Genomics. 2010 Feb;20(2):71-6. doi: 10.1097/FPC.0b013e328333a172.
29 Association of SCN1A gene polymorphisms with infantile spasms and adrenocorticotropic hormone responsiveness.Eur Rev Med Pharmacol Sci. 2014;18(17):2500-6.
30 Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.Seizure. 2018 Aug;60:91-93. doi: 10.1016/j.seizure.2018.06.012. Epub 2018 Jun 13.
31 Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.J Hum Genet. 2016 Aug;61(8):761-4. doi: 10.1038/jhg.2016.44. Epub 2016 May 19.
32 SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.Eur J Paediatr Neurol. 2018 Nov;22(6):1095-1102. doi: 10.1016/j.ejpn.2018.08.002. Epub 2018 Aug 27.
33 Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.Am J Med Genet A. 2016 Nov;170(11):3004-3007. doi: 10.1002/ajmg.a.37836. Epub 2016 Aug 23.
34 A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III.Neuropediatrics. 1999 Apr;30(2):90-2. doi: 10.1055/s-2007-973466.
35 Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.Brain. 2014 May;137(Pt 5):1350-60. doi: 10.1093/brain/awu051. Epub 2014 Mar 18.
36 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
37 A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.Mitochondrion. 2013 Nov;13(6):656-61. doi: 10.1016/j.mito.2013.09.004. Epub 2013 Sep 22.
38 Severity of manifestations in tuberous sclerosis complex in relation to genotype.Epilepsia. 2014 Jul;55(7):1025-9. doi: 10.1111/epi.12680. Epub 2014 Jun 10.
39 ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat. 2010 Aug;31(8):889-900. doi: 10.1002/humu.21288.
40 CDKL5 disruption by t(X;18) in a girl with West syndrome. Clin Genet. 2008 Sep;74(3):288-90. doi: 10.1111/j.1399-0004.2008.01048.x. Epub 2008 Jun 28.
41 Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy. Am J Hum Genet. 2018 Feb 1;102(2):321-329. doi: 10.1016/j.ajhg.2018.01.004. Epub 2018 Jan 27.
42 West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. Eur J Hum Genet. 2016 Jul;24(7):1001-8. doi: 10.1038/ejhg.2015.227. Epub 2015 Oct 21.
43 De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. Brain. 2018 Nov 1;141(11):3098-3114. doi: 10.1093/brain/awy246.
44 Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. Hum Mutat. 2014 Mar;35(3):350-5. doi: 10.1002/humu.22498. Epub 2014 Jan 13.
45 West syndrome caused by ST3Gal-III deficiency. Epilepsia. 2013 Feb;54(2):e24-7. doi: 10.1111/epi.12050. Epub 2012 Dec 17.
46 STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia. 2011 Oct;52(10):1820-7. doi: 10.1111/j.1528-1167.2011.03163.x. Epub 2011 Jul 18.
47 Epilepsy and outcome in FOXG1-related disorders.Epilepsia. 2014 Aug;55(8):1292-300. doi: 10.1111/epi.12648. Epub 2014 May 16.
48 MAGI2 Mutations Cause Congenital Nephrotic Syndrome.J Am Soc Nephrol. 2017 May;28(5):1614-1621. doi: 10.1681/ASN.2016040387. Epub 2016 Dec 8.
49 Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.Hum Mutat. 2019 Oct;40(10):1700-1712. doi: 10.1002/humu.23779. Epub 2019 May 17.
50 Genotype-phenotype correlation on 45 individuals with West syndrome.Eur J Paediatr Neurol. 2020 Mar;25:134-138. doi: 10.1016/j.ejpn.2019.11.010. Epub 2019 Nov 26.
51 West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.J Med Genet. 2013 Nov;50(11):772-5. doi: 10.1136/jmedgenet-2013-101752. Epub 2013 Jun 28.
52 Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.Neuropediatrics. 2020 Feb;51(1):22-29. doi: 10.1055/s-0039-1696688. Epub 2019 Sep 10.
53 Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.J Child Neurol. 2006 Nov;21(11):978-81. doi: 10.1177/08830738060210110301.
54 Proteomic analysis on infantile spasm and prenatal stress.Epilepsy Res. 2014 Sep;108(7):1174-83. doi: 10.1016/j.eplepsyres.2014.06.001. Epub 2014 Jun 14.
55 CHD2-related epilepsy: novel mutations and new phenotypes.Dev Med Child Neurol. 2020 May;62(5):647-653. doi: 10.1111/dmcn.14367. Epub 2019 Nov 1.
56 Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.Brain. 2009 Jun;132(Pt 6):1563-76. doi: 10.1093/brain/awp107. Epub 2009 May 12.
57 Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.Mol Genet Metab. 2017 Dec;122(4):216-222. doi: 10.1016/j.ymgme.2017.10.003. Epub 2017 Oct 12.
58 Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.J Hum Genet. 2019 Oct;64(10):1005-1014. doi: 10.1038/s10038-019-0641-1. Epub 2019 Jul 16.
59 Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.Brain. 2019 Oct 1;142(10):3028-3044. doi: 10.1093/brain/awz250.
60 Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms.Brain Dev. 2020 Feb;42(2):199-204. doi: 10.1016/j.braindev.2019.10.006. Epub 2019 Nov 15.
61 Successful treatment for West syndrome with severe combined immunodeficiency.Brain Dev. 2015 Jan;37(1):140-4. doi: 10.1016/j.braindev.2014.01.012. Epub 2014 Feb 15.
62 Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.Epilepsia. 2001 Sep;42(9):1103-11. doi: 10.1046/j.1528-1157.2001.08801.x.
63 LAMA2-related congenital muscular dystrophy complicated by West syndrome.Eur J Paediatr Neurol. 2015 Mar;19(2):243-7. doi: 10.1016/j.ejpn.2014.11.005. Epub 2014 Dec 2.
64 A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.BMC Med Genet. 2014 May 29;15:62. doi: 10.1186/1471-2350-15-62.
65 A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.Am J Med Genet A. 2007 May 1;143A(9):921-4. doi: 10.1002/ajmg.a.31531.
66 Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation.Seizure. 2017 Aug;50:144-146. doi: 10.1016/j.seizure.2017.06.018. Epub 2017 Jun 20.
67 A new paradigm for West syndrome based on molecular and cell biology.Epilepsy Res. 2006 Aug;70 Suppl 1:S87-95. doi: 10.1016/j.eplepsyres.2006.02.008. Epub 2006 Jun 23.
68 Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.J Hum Genet. 2018 Apr;63(4):473-485. doi: 10.1038/s10038-017-0401-z. Epub 2018 Feb 6.
69 Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19.
70 A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.Neuropediatrics. 2012 Jun;43(3):130-4. doi: 10.1055/s-0032-1309308. Epub 2012 Apr 2.
71 Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.BMC Neurol. 2018 Sep 20;18(1):150. doi: 10.1186/s12883-018-1157-6.
72 RARS2 mutations in a sibship with infantile spasms.Epilepsia. 2016 May;57(5):e97-e102. doi: 10.1111/epi.13358. Epub 2016 Apr 8.
73 Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.Am J Med Genet. 2002 May 1;109(3):211-7. doi: 10.1002/ajmg.10348.
74 The SORCS3 gene is mutated in brothers with infantile spasms and intellectual disability.Discov Med. 2018 Oct;26(143):147-153.
75 Recessive mutations in SPTBN2 implicate -III spectrin in both cognitive and motor development. PLoS Genet. 2012;8(12):e1003074. doi: 10.1371/journal.pgen.1003074. Epub 2012 Dec 6.
76 The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29.
77 Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.Am J Hum Genet. 2016 Oct 6;99(4):950-961. doi: 10.1016/j.ajhg.2016.08.005. Epub 2016 Sep 22.
78 X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Neurology. 2002 Aug 13;59(3):348-56. doi: 10.1212/wnl.59.3.348.
79 Severe neurodevelopmental disease caused by a homozygous TLK2 variant.Eur J Hum Genet. 2020 Mar;28(3):383-387. doi: 10.1038/s41431-019-0519-x.
80 Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.Epileptic Disord. 2014 Dec;16(4):449-55. doi: 10.1684/epd.2014.0712.
81 Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.Clin Genet. 2016 Feb;89(2):198-204. doi: 10.1111/cge.12636. Epub 2015 Jul 30.
82 A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient.Am J Med Genet A. 2018 Nov;176(11):2425-2429. doi: 10.1002/ajmg.a.40429. Epub 2018 Oct 5.
83 An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.Brain Dev. 2018 Oct;40(9):813-818. doi: 10.1016/j.braindev.2018.05.010. Epub 2018 May 29.
84 Expanding the clinical phenotype of IARS2-related mitochondrial disease.BMC Med Genet. 2018 Nov 12;19(1):196. doi: 10.1186/s12881-018-0709-3.
85 Use of Flow Cytometry for Diagnosis of Epilepsy Associated With Homozygous PIGW Variants.Pediatr Neurol. 2018 Aug;85:67-70. doi: 10.1016/j.pediatrneurol.2018.05.010. Epub 2018 Jun 5.