TableĀ 2

Showing the number of DNMs identified in cases and controls in previous exome sequencing studies, as well as the OMIM designation number, for genes with DNMs found in this study

GeneCasesControlsIDEpilepsyAssociated disorder (OMIM designation and number)
SCN2A200YesYesEpileptic encephalopathy, MIM:613721, seizures, MIM: 607745
SYNGAP112 (1)1 (1)YesYesMental retardation, MIM:612621
SETD561YesNoMental retardation, MIM:615761
CDKL530YesYesEpileptic encephalopathy, MIM:300672
KCNQ23 (1)0YesYesEpileptic encephalopathy, MIM:613720, Myokymia, MIM:121200
ZMYND1120YesNoMental retardation, MIM:616083
TBC1D41 (1)0NoNoNone
KCNA110YesYesEpisodic ataxia/myokymia syndrome, MIM:160120
BAZ1A11 (1)NoNoNone
ERC21 (1)1NoNoNone
GABRG210NoYesEpilepsy, MIM:611277, MIM:607681
GRIN111YesYesMental retardation, MIM:614254
SMC1A10YesYesCornelia de Lange syndrome, MIM:300590
  • The number of synonymous DNMs for each gene and category is noted in parenthesis. One DNM in each of these genes was found in this study, including four stopgains (SYNGAP1, SETD5, CDKL5, SMC1A), ten non-synonymous (SCN2A, HECW2, KCNQ2, ZMYND11, TBL1D4, KCNA1, BAZ1A, ERC2, GABRG2, GRIN1) and one synonymous (KIAA1244). Variants identified in the present study are not included in this table (listed in table 1)

  • ID, intellectual disability; DNM, de novo mutation.