Epileptische Enzephalopathie

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

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