Gen-Panel
Epilepsien, umfassende Diagnostik: ID061.05, 163 Gene
AARS1,
ACTL6B,
ADAM22,
ALDH7A1,
ALG13,
AP3B2,
ARHGEF9,
ARV1,
ARX,
ASAH1,
ATP1A2,
ATP1A3,
ATP6V0A1,
ATP6V1A,
BRAT1,
CACNA1A,
CACNA1E,
CACNB4,
CAD,
CASR,
CDK19,
CDKL5,
CELF2,
CERS1,
CHD2,
CHRNA2,
CHRNA4,
CHRNB2,
CILK1,
CLCN2,
CLN8,
CNPY3,
CNTN2,
CNTNAP2,
CPA6,
CPLX1,
CSTB,
CUX2,
CYFIP2,
DALRD3,
DENND5A,
DEPDC5,
DMXL2,
DNM1,
DOCK7,
EEF1A2,
EFHC1,
EPM2A,
FBXO28,
FGF12,
FGF13,
FRRS1L,
GABBR2,
GABRA1,
GABRA2,
GABRA5,
GABRB1,
GABRB2,
GABRB3,
GABRD,
GABRG2,
GAD1,
GAL,
GLS,
GNAO1,
GOSR2,
GOT2,
GRIN1,
GRIN2A,
GRIN2B,
GRIN2D,
GUF1,
HCN1,
HCN2,
HID1,
HNRNPU,
ITPA,
KCNA2,
KCNB1,
KCNC1,
KCNC2,
KCNMA1,
KCNQ2,
KCNQ3,
KCNT1,
KCNT2,
KCTD7,
LGI1,
LMNB2,
MDH1,
MDH2,
MECP2,
MEF2C,
MTOR,
NECAP1,
NEUROD2,
NHLRC1,
NPRL2,
NPRL3,
NSF,
NTRK2,
PACS2,
PARS2,
PCDH19,
PHACTR1,
PIGA,
PIGB,
PIGP,
PIGQ,
PIGS,
PLCB1,
PLPBP,
PNKP,
PNPO,
POLG,
PPP3CA,
PRDM8,
PRICKLE1,
PRRT2,
RELN,
RHOBTB2,
RNF13,
ROGDI,
RORA,
RORB,
SCARB2,
SCN1A,
SCN1B,
SCN2A,
SCN3A,
SCN8A,
SEMA6B,
SIK1,
SLC1A2,
SLC2A1,
SLC6A1,
SLC7A6OS,
SLC12A5,
SLC13A5,
SLC25A12,
SLC25A22,
SLC35A2,
SLC38A3,
SMC1A,
SNIP1,
SPTAN1,
SRPX2,
ST3GAL3,
ST3GAL5,
STX1B,
STXBP1,
SYN1,
SYNGAP1,
SYNJ1,
SZT2,
TBC1D24,
TCF4,
TRAK1,
UBA5,
UGDH,
UGP2,
WWOX,
YWHAG
Inkludierte Phänotypen
Epileptische Enzephalopathie (DEE, EIEE): 105 Gene
AARS1,
ACTL6B,
ADAM22,
ALG13,
AP3B2,
ARHGEF9,
ARV1,
ARX,
ATP1A2,
ATP1A3,
ATP6V0A1,
ATP6V1A,
CACNA1A,
CACNA1E,
CAD,
CDK19,
CDKL5,
CELF2,
CHD2,
CNPY3,
CPLX1,
CUX2,
CYFIP2,
DALRD3,
DENND5A,
DMXL2,
DNM1,
DOCK7,
EEF1A2,
FBXO28,
FGF12,
FGF13,
FRRS1L,
GABBR2,
GABRA1,
GABRA2,
GABRA5,
GABRB1,
GABRB2,
GABRB3,
GABRG2,
GAD1,
GLS,
GNAO1,
GOT2,
GRIN1,
GRIN2B,
GRIN2D,
GUF1,
HCN1,
HID1,
HNRNPU,
ITPA,
KCNA2,
KCNB1,
KCNC2,
KCNQ2,
KCNT1,
KCNT2,
MDH1,
MDH2,
NECAP1,
NEUROD2,
NSF,
NTRK2,
PACS2,
PARS2,
PCDH19,
PHACTR1,
PIGA,
PIGB,
PIGP,
PIGQ,
PIGS,
PLCB1,
PNKP,
PPP3CA,
RHOBTB2,
RNF13,
SCN1A,
SCN1B,
SCN2A,
SCN3A,
SCN8A,
SIK1,
SLC1A2,
SLC12A5,
SLC13A5,
SLC25A12,
SLC25A22,
SLC35A2,
SLC38A3,
SMC1A,
SPTAN1,
ST3GAL3,
STXBP1,
SYNJ1,
SZT2,
TBC1D24,
TRAK1,
UBA5,
UGDH,
UGP2,
WWOX,
YWHAG
Fokale Epilepsien: 17 Gene
CHRNA2,
CHRNA4,
CHRNB2,
CNTNAP2,
CPA6,
DEPDC5,
GAL,
GRIN2A,
KCNT1,
LGI1,
NPRL2,
NPRL3,
PCDH19,
RELN,
SCN3A,
SRPX2,
TBC1D24
Generalisierte Epilepsien: 39 Gene
ALDH7A1,
ASAH1,
CACNB4,
CASR,
CERS1,
CILK1,
CLCN2,
CLN8,
CNTN2,
CSTB,
EFHC1,
EPM2A,
GABRA1,
GABRB3,
GABRD,
GABRG2,
GOSR2,
HCN1,
HCN2,
KCNC1,
KCNMA1,
KCTD7,
LMNB2,
NHLRC1,
PLPBP,
POLG,
PRDM8,
PRICKLE1,
RORB,
SCARB2,
SCN1A,
SCN1B,
SEMA6B,
SLC2A1,
SLC6A1,
SLC7A6OS,
SLC12A5,
STX1B,
TBC1D24
