TableĀ 1

A list of disease-associated genes with DNMs identified in this study

GenePositionFamilyMutation typeIDEpilepsyAssociated disorder (OMIM designation and number)Inheritance
CDKL5chrX:18598085:C/TFam2StopgainYesYesEpileptic encephalopathy, early infantile, 2, MIM:300672XD
KCNQ2chr20:62044879:C/AFam3Non-synonymousYesYesEpileptic encephalopathy, early infantile, 7, MIM:613720, Seizures, benign neonatal, 1, MIM: 121200AD
SYNGAP1chr6:33400477:C/TFam4StopgainYesYesMental retardation, autosomal dominant 5, MIM:612621AD
SETD5chr3:9490126:G/TFam5StopgainYesYesMental retardation, autosomal dominant 23, MIM:615761AD
SMC1AchrX:53423489:G/AFam6StopgainYesYesCornelia de Lange syndrome 2, MIM:300590XD
ZMYND11chr10:298399:C/TFam7Non-synonymousYesNoMental retardation, autosomal dominant 30, MIM:616083AD
EFTUD2chr17:42931953:T/GFam7Non-synonymousYesYesMandibulofacial dysostosis, Guion-Almeida type, MIM:610536AD
AAASchr12:53702981:C/TFam8Non-synonymousYesYesAchalasia-addisonianism-alacrimia syndrome, MIM:231550AR
GABRG2chr5:161576159:G/AFam8Non-synonymousNoYesEpilepsy, generalised, with febrile seizures plus, type 3, MIM:611277, Epilepsy, childhood absence, susceptibility to, 2, MIM:607681AD
GRIN1chr9:140053150:A/CFam9Non-synonymousYesYesMental retardation, autosomal dominant 8, MIM:614254AD
SCN2Achr2:166166923:C/TFam10Non-synonymousYesYesEpileptic encephalopathy, early infantile, 11, MIM:613721, Seizures, benign familial infantile, 3, MIM:607745AD
ST5chr11:8752629:G/CFam11Non-synonymousYesYesMental retardation, MIM:140750AD
KCNA1chr12:5021751:C/TFam12Non-synonymousYesYesEpisodic ataxia/myokymia syndrome, MIM:160120AD
CERS1chr19:18990105:A/TFam14Non-synonymousYesYesEpilepsy, progressive myoclonic, 8, MIM:616230AR
MED12chrX:70349234:G/AFam16Non-synonymousYesYesLujan-Fryns syndrome, MIM:309520, Ohdo syndrome, X-linked, MIM:300895, Opitz-Kaveggia syndrome, MIM:305450XR
  • For each gene it is noted if it has been associated with ID, epilepsy or both, as well as OMIM IDs for each specific disease it has been associated with.

  • AD, autosomal dominant; AR, autosomal recessive; ID, intellectual disability; XD, X-linked dominant; XR, X-linked recessive.