Entwicklungsbedingte und epileptische Enzephalopathie (DEE, EIEE)
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,
SLC12A5,
SLC13A5,
SLC1A2,
SLC25A12,
SLC25A22,
SLC35A2,
SLC38A3,
SMC1A,
SPTAN1,
ST3GAL3,
STXBP1,
SYNJ1,
SZT2,
TBC1D24,
TRAK1,
UBA5,
UGDH,
UGP2,
WWOX,
YWHAG
Metabolische Enzephalopathie mit Epilepsie
ABAT,
ADSL,
ALDH5A1,
ALDH7A1,
AMT,
BTD,
D2HGDH,
FOLR1,
GAMT,
GCSH,
GLDC,
GPHN,
IDH2,
LIAS,
MDH2,
MOCS1,
MOCS2,
MTHFR,
PC,
PHGDH,
PNPO,
POLG,
SLC19A3,
SLC1A2,
SLC25A1,
SLC2A1,
SLC6A8,
SLC6A9,
TPK1
Gesamte Genliste
AARS1, ABAT, ACTL6B, ADAM22, ADAR, ADSL, ALDH5A1, ALDH7A1, ALG13, AMT, AP3B2, ARHGEF9, ARV1, ARX, ASNS, ATP1A2, ATP1A3, ATP6V0A1, ATP6V1A, BRAT1, BSCL2, BTD, CACNA1A, CACNA1E, CAD, CCDC88A, CDK19, CDKL5, CELF2, CHD2, CLCN4, CNPY3, CNTNAP2, CPLX1, CUX2, CYFIP2, D2HGDH, DALRD3, DENND5A, DMXL2, DNM1, DNM1L, DOCK7, EEF1A2, ETHE1, FBXO28, FGF12, FGF13, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2, GAD1, GAMT, GCSH, GLDC, GLS, GNAO1, GOT2, GPHN, GRIN1, GRIN2B, GRIN2D, GUF1, HCN1, HID1, HNRNPU, IDH2, IFIH1, ITPA, KCNA2, KCNB1, KCNC2, KCNQ2, KCNT1, KCNT2, LIAS, MDH1, MDH2, MECP2, MEF2C, MFF, MOCS1, MOCS2, MTHFR, NAXD, NAXE, NECAP1, NEUROD2, NRXN1, NSF, NTRK2, PACS2, PARS2, PC, PCDH19, PHACTR1, PHGDH, PIGA, PIGB, PIGP, PIGQ, PIGS, PLCB1, PNKP, PNPO, POLG, PPP3CA, PURA, RHOBTB2, RNASEH2A, RNASEH2B, RNASEH2C, RNF13, ROGDI, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SERPINI1, SIK1, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A1, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC38A3, SLC6A8, SLC6A9, SLC9A6, SMC1A, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCD, TBCE, TCF4, TPK1, TRAK1, TREX1, UBA5, UGDH, UGP2, WDR45, WWOX, YWHAG
