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Molekulargenetik

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  9. Epilepsie

Epilepsie

Erkrankungen Gene
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Absence-Epilepsie der Kindheit

CACNA1H, EFHC1, GABRA1, GABRB3, GABRG2, JRK, NIPA2, SLC2A1

Benigne familiäre Neugeborenenkrämpfe

CHRNA2, KCNQ2, KCNQ3, PRRT2, SCN2A, SCN8A

Dravet Syndrom / Dravet Syndrom-ähnlicher Phänotyp

CHD2, GABRA1, GABRB3, GABRG2, PCDH19, SCN1A, SCN1B, SCN2A, SCN9A, STXBP1

Enzephalopathie aufgrund mitochondrialer Defekte basierend auf Mutationen in nukleär-kodierten Genen (Leigh Syndrom), Basisdiagnostik

PDHA1, PDSS1, PDSS2, POLG, SCO2, SDHA, SLC19A3, SUCLA2, SUCLG1, SURF1, TRMU

Enzephalopathie aufgrund mitochondrialer Defekte basierend auf Mutationen in nukleär-kodierten Genen (Leigh Syndrom), erweiterte Diagnostik

AARS, C10orf2, EARS2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FOXRED1, GFAP, GFER, GFM1, IBA57, LRPPRC, LYRM7, MARS2, MICU1, MPV17, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NDUFA1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6. NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, PANK2, PC, PDHB, PDHX, PDP1, PNPT1, PTCD1, PUS1, RARS2, RMND1, RRM2B, SARS2, SCO1, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SLC19A2, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC33A1, SLC6A8, SPG7, STXBP1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM70, TPK1, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, YARS2

Epilepsie mit Therapierelevanz

ALDH7A1, ALG13, GRIN2A, KCNQ2, PNPO, PRRT2, SCN1A, SCN2A, SLC2A1

Epilepsie mit X-chromosomaler mentaler Retardierung, Basisdiagnostik

ARHGEF9, ARX, ATRX, CASK, CDKL5, GRIA3, MECP2, SLC9A6, SMS, SYN1

Epilepsie mit X-chromosomaler mentaler Retardierung, erweiterte Diagnostik

ALG13, ATP6AP2, CLCN4, CUL4B, FMR1, HSD17B10, IQSEC2, KDM5C, MED12, OFD1, OPHN1, PAK3, PCDH19, PGK1, PHF6, PIGA, PLP1, RAB39B, SRPX2, SYP, UBE2A, WDR45

Epileptische Enzephalopathie, Basisdiagnostik

ARX, CDKL5, KCNQ2, MECP2, PCDH19, SCN1A, SCN2A, SCN8A, STXBP1

Epileptische Enzephalopathie, erweiterte Diagnostik

AARS, ACY1, ADAR, ADSL, ALDH7A1, ALG13, AMACR, AMT, ARHGEF15, ARHGEF9, ASAH1, ATP13A2, ATP1A2, BRAT1, C10orf2/TWNK, C19orf12, CACNA1A, CASK, CHD2, CHD8, CLCN4, CLN3, CLN5, CLN6, CLP1, CNTNAP2, CP, CPT2, CSTB, DCAF17, DCX, DNM1, DOCK7, DPM2, DYRK1A, EARS2, EEF1A2, EFHC1, EIF2B3, EPM2A, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAM126A, FARS2, FASN, FASTKD2, FBXL4, FLNA, FOLR1, FOXG1, FOXRED1, FTL, GABBR2, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GCSH, GFAP, GFER, GFM1, 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, LRPPRC, LYRM7, MARS2, MBD5, MEF2C, MICU1, MOCS1, MOCS2, MPV17, MRPS16, MRPS22, MTFMT, MTHFR, MTO1, MTOR, MTPAP, MYBPC1, NDUFA1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NFU1, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, NUBPL, OPA1, PANK2, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PHGDH, PIGA, PIK3AP1, PLA2G6, PLCB1, PLP1, PNKP, PNPO, PNPT1, POLG, POLR3A, POLR3B, PPT1, PPT2, PRICKLE1, PRICKLE2, PRRT2, PTCD1, PUS1, QARS, RANBP2, RANGAP1, RARS2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RRM2B, RYR3, SAMHD1, SARS2, SCARB2, SCN1B, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SEZ6, SGCE, SIK1, SLC13A5, SLC19A2, SLC19A3, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC2A1, SLC33A1, SLC35A2, SLC6A8, SLC9A6, SPG7, SPTAN1, ST3GAL3, ST3GAL5, STX1B, STXBP1, SUCLA2, SUCLG1, SURF1, SYN1, SYNE1, SYNGAP1, SYNJ1, SZT2, TACO1, TARS2, TAZ, TBC1D24, TCF4, TIMM8A, TK2, TMEM70, TNK2, TPK1, TPP1, TREX1, TRMU, TSC1, TSC2, TSFM, TTC19, TUBB2A, TUFM, TYMP, UBE3A, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, WWOX, YARS2, ZEB2

Fokale Epilepsie inkl. nächtliche Frontallappenepilepsie

CHRNA2, CHRNA4, CHRNB2, CPA6, CRH, DEPDC5, ELP4, GRIN2A, KCNT1, LGI1, SCN1A

Generalisierte Epilepsie mit Fieberkrämpfen plus (GEFS+) / Fieber-assoziierte Epilepsie

GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A, STX1B

Glukosetransporter-Defekt (GLUT1)

SLC2A1

Glycin-Enzephalopathie

AMT, GCSH, GLDC, SLC9A6

Idiopathische generalisierte Epilepsie

CACNA1A, CACNB4, GABRA1, GABRB3, GABRG2, SCN1A, SCN1B, SLC2A1, STX1B, TBC1D24

Idiopathische generalisierte und fokale Epilepsie, Basisdiagnostik

CHRNA4, CHRNB2, EFHC1, GABRA1, GRIN2A, KCNQ2, KCNQ3, LGI1, PRRT2, SCN1A, SCN2A, TBC1D24

Idiopathische generalisierte und fokale Epilepsie, erweiterte Diagnostik

ALDH7A1, AMACR, CACNA1A, CACNA1H, CACNB4, CASR, CHRNA2, CLCN2, CNTN2, CPA6, CRH, DEPDC5, ELP4, GABRB3, GABRD, GABRG2, GOSR2, JRK, KCNA1, KCNJ10, KCNMA1, KCNT1, ME2, NIPA2, NOL3, PRRT2, RBFOX1, RBFOX3, SCN1B, SCN8A, SCN9A, SLC1A3, SLC2A1, SLC6A1, STX1B, UBR5

Juvenile Myoklonusepilepsie / Myoklonusepilepsie, Basisdiagnostik

CACNB4, CLCN2, EFHC1, EPM2A, GABRA1, GABRD, KCNC1, KCNMA1, NHLRC1, PRICKLE1, PRICKLE2, SLC6A1, TBC1D24

Juvenile Myoklonusepilepsie / Myoklonusepilepsie, erweiterte Diagnostik

ASAH1, CASR, CLN3, CLN5, CLN6, CSTB, FOLR1, GLDC, GOSR2, HEXA, HEXB, KCTD7, MYBPC1, NEU1, NOL3, NPC1, NPC2, POLG, PPT1, SCARB2, SGCE, TPP1

Laterale Temporallappenepilepsie

CPA6, DEPDC5, LGI1

Metabolische Epilepsie

ACY1, ADSL, ALDH7A1, AMT, ETFA, ETFB, ETFDH, FOLR1, GAMT, GCSH, GLDC, GLUL, GPHN, HADH, MOCS1, MOCS2, MTHFR, PC, PDHA1, PDHB, PGK1, PHGDH, PNPO, SLC6A8

Pyridoxin-abhängige Epilepsie

ALDH7A1, PNPO

Rett Syndrom und Rett Syndrom-ähnliche Erkrankungen

ARX, CDKL5, FOXG1, GABBR2, IQSEC2, MECP2, MEF2C, STXBP1, TCF4, UBE3A, ZEB2

Rolando-Epilepsie

DEPDC5, GABRG2, GRIN2A, KCNQ2, KCNQ3, PRRT2, SCN1A, SRPX2

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