Table 1.

The 430 genes selected for further filtering

Genes associated with EIEE and EE in OMIM (55)	AARS, ARHGEF9, ARX, CDKL5, DNM1, DOCK7, EEF1A2, FOXG1, GRIN2B, GABRA1, GNAO1, HCN1, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, MAGI2, MECP2, NECAP1, PCDH19, PIGA, PLCB1, PNKP, PNPO, SCN1A, SIK1, SLC12A5, SLC13A5, SCN2A, SLC25A22, SLC35A2, SCN8A, SPTAN1, ST3GAL3, STXBP1, SZT2, TBC1D24, WWOX, ALG13, ARHGEF15, CACNA2D2, CBL, CHD2, CLCN4, CSNK1G1, GABRG2, GRIN2A, KCNH5, KPNA7, MAPK10, MBD5, PIGQ, SRGAP2, SYNGAP1
Candidate genes identified in exome studies (35)	ADSL, ANK3, CACNA1A, CNTN5, DCX, DNAJC6, FLNA, GABRB1, GRIN1, HDAC4, IQSEC2, MTOR, NEDD4L, PTEN, FASN, GABBR2, RANGAP1, RYR3, TTN, HADHB, KIAA1456, LPHN2, MTMR1, OR10H2, ZMYND8, ZNF182, HNRNPU, MEF2C, UBE3A, ASAH1, FOLR1, SYNJ1, CASK, KCND2, KCNV2
Candidate genes from EE or epilepsy‐associated CNVs (53)	ADAM22, ADAM23, AKT3, APBA1, APBA2, CACNA2D1, CHD5, CHL1, CLVS2, CPLX1, CRIPT, CRMP1, DLGAP1, DLGAP2, DLGAP3, DLX1, DLX2, EFCAB2, EPHA6, EPHB2, EPN1, ERBB4, FZD9, GABRA5, GABRB3, GABRG3, GAD1, GNAI1, JAKMIP1, KLHL17, MAGEL2, MAPK8, NCAM2, OTX1, RCOR1, PDK1, PPP2R2C, REL, SEMA3A, SEMA3E, SH3GL2, SHROOM2, SLC1A1, SLC1A3, SMARCA2, SNPH, SP1, STX1A, SV2A, SV2B, SYT2, ZNF532, ZNF536
Genes related to epilepsy or other neurodevelopmental diseases (287)	272 genes from NGS panel by Lemke et al.,11 ASNS, BCKDK, CHRNA7, CPA6, DNAJC5, GATM, GOSR2, GRN, KANSL1, LIAS, PRRT2, SLC19A3, ST3GAL5, SYN1, UPB1

CNV, copy number variation; EE, epileptic encephalopathy; EIEE, early infantile EE; OMIM, Online Mendelian Inheritance in Man database.