Basis-Diagnostik
männlich:
ARX, CDKL5, KCNQ2, SCN1A, SCN2A, STXBP1, SCN8A
weiblich:
ARX, CDKL5, KCNQ2, MECP2, PCDH19, SCN1A, SCN2A, STXBP1
Erweiterte Diagnostik
AARS, ACY1, ADAR, ADSL, ALDH7A1, ALG13, AMACR, AMT, ARHGEF15, ARHGEF9, ASAH1, ARP13A2, ATP1A2, BRAT1, C10orf2, C19orf12, CACNA1A, CASK, CHD2, CHD8, CLCN4, CLN3, CLN5, CLN6, CLP1, CNTNAP2, CP, CPT2, CSTB, DCAF17, DCX, DNM1, DOCK7, DPM2, DYRK1A, EEF1A2, EFHC1, EIF2B3, EPM2A, FA2H, FAM126A, FASN, FLNA, FOLR1, FOXG1, FTL, GABBR2, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GCSH, GFAP, GLDC, GLUL, GMPPB, GNAO1, GOSR2, GPHN, GPR98, GRIN1, GRIN2A, GRIN2B, HADH, HCN1, HCN2, HDAC4, HEXA, HEXB, HNRNPH1, HNRNPU, IBA57, IQSEC2, KCNA2, KCNB1, KCNC1, KCNH5, KCNQ3, KCNT1, KCTD7, MBD5, MEF2C, MOCS1, MOCS2, MTHFR, MTOR, MYBPC1, NECAP1, NEDD4L, NEU1, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, PANK2, PHGDH, PIGA, PIK3AP1, PLA2G6, PLCB1, PLP1, PNKP, PNPO, POLG, POLR3A, POLR3B, PPT1, PPT2, PRICKLE1, PRICKLE2, PRRT2, QARS, RANBP2, RANGAP1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RYR3, SAMHD1, SCARB2, SCN1B, SCN9A, SEZ6, SGCE, SIK1, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC9A6, SPTAN1, ST3GAL3, ST3GAL5, STX1B, SYN1, SYNE1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TNK2, TPP1, TREX1, TSC1, TSC2, TUBB2A, UBE3A, WDR45, WWOX, ZEB2
männlicher Patient zusätzlich folgende Gene:
MECP2, PCDH19
weiblicher Patient zusätzlich folgende Gene:
SCN8A