NGS Epilepsien

Zugehörige Erkrankungen:
Fühkindliche epileptische Enzephalopathie
Epileptische Enzephalopathie
Familiäre nächtliche Frontallappenepilepsie (ADNFLE)
Benigne familiäre Neugeborenenkrämpfe (BFNS)
Generalisierte Epilepsie mit febrilen Anfällen (GEFS)
Kreatinmangel-Syndrome
Rett- und Rett-ähnliches Syndrom
Angelman und Angelman-ähnliches Syndrom
Dravet-Syndrom (Myoklonische Frühenzephalopathie)
West Syndrom (Epileptische Enzephalopathie Typ 1)
Ohtahara-Syndrom
Epilepsie mit mentaler Retardierung bei Mädchen (Einzelgendiagnostik)

Fühkindliche epileptische Enzephalopathie Gen-Panel (9 Gene)
AMT, ARX, CDKL5, GCSH, GLDC, KCNQ2, SCN2A, SLC25A22, STXBP1

Epileptische Enzephalopathie Gen-Panel (16 Gene)
ALDH7A1, ARX, CDKL5, FOLR1, FOXG1, GAMT, KCNQ2, MECP2, PCDH19, PHGDH, PNPO, POLG, PPT1, SCN1A, SLC2A1, STXBP1

Familiäre nächtliche Frontallappenepilepsie (ADNFLE) Gen-Panel (3 Gene)
CHRNA2, CHRNA4, CHRNB2

Benigne familiäre Neugeborenenkrämpfe (BFNS) Gen-Panel (2 Gene)
KCNQ2, KCNQ3

Generalisierte Epilepsie mit febrilen Anfällen (GEFS) Gen-Panel (4 Gene)
GABRG2, SCN1A, SCN1B, SCN2A

Kreatinmangelsyndrome Gen-Panel (3 Gene)
GAMT, GATM, SLC6A8

Rett- und Rett-ähnliches Syndrom Gen-Panel (4 Gene)
CDKL5, FOXG1, MECP2, MEF2C

Angelman/Angelmanlike-Syndrom Gen-Panel (5 Gene)
CNTNAP2, SLC9A6, NRXN1, TCF4, UBE3A

Dravet-Syndrom (Myoklonische Frühenzephalopathie) Gen-Panel (4 Gene)
PCDH19, SCN2A, SCN1B, GABRG2

West Syndrom (Epileptische Enzephalopathie Typ1) Gen-Panel (7 Gene)
ARFGEF2, ARX, CDKL5, MEF2C, STXBP1, TSC1, TSC2

Ohtahara-Syndrom Gen-Panel (2 Gene)
ARX, STXBP1

Epilepsien (gesamt) Gen-Panel (533 Gene)
A2M, AARS, AARS2, ABAT, ABCC8, ABCD1, ACTB, ACTG1, ACY1, ADAR, ADCK3, ADK, ADRA2B, ADSL, AFG3L2, AGA, AHI1, AIMP1, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMT, APTX, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARL13B, ARSA, ARSB, ARV1, ARX, ASAH1, ASPA, ASPM, ATIC, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATPAF2, ATR, ATRX, AUH, B4GALT1, BCKDHA, BCKDHB, BCKDK, BCS1L, BRAT1, BTD, BUB1B, C10orf2, C12orf57, C12orf65, C19orf12, C5orf42, CACNA1A, CACNA1H, CACNB4, CARS2, CASC5, CASK, CASR, CC2D2A, CDK5RAP2, CDKL5, CDON, CENPJ, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CERS1, CHD2, CHD8, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNNM2, CNTN2, CNTNAP2, COG1, COG4, COG5, COG6, COG7, COG8, COL4A1, COQ2, COQ4, COQ6, COQ9, COX10, COX15, CP, CPA6, CPT2, CSTB, CTSA, CTSD, CTSF, CUL4B, D2HGDH, DARS2, DBT, DCAF17, DCHS1, DCX, DDOST, DEPDC5, DHCR24, DHCR7, DHFR, DLD, DNAJC5, DNM1, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DYNC1H1, DYRK1A, EARS2, EEF1A2, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EOMES, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, EZH2, FA2H, FAM126A, FARS2, FAT4, FH, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FRRS1L, FTL, FUCA1, GABRA1, GABRB3, GABRD, GABRG2, GALC, GALNS, GAMT, GATM, GCDH, GCH1, GCK, GCSH, GFAP, GFM1, GJC2, GLB1, GLDC, GLI2, GLRA1, GLRB, GLUD1, GLUL, GNAO1, GNB1, GNE, GNPTAB, GNPTG, GNS, GOSR2, GPC3, GPHN, GPR56, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, GUSB, HACE1, HADH, HCN1, HDAC4, HEPACAM, HEXA, HEXB, HGSNAT, HLCS, HNRNPH1, HNRNPU, HPD, HSD17B10, HSPD1, HYAL1, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, INPP5E, IQSEC2, ISPD, ITPA, IVD, JRK, KCNA1,KCNA2, KCNB1, KCNC1, KCNH5, KCNJ10, KCNJ11, KCNK18, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KDM6A, KIF2A, KIF5C, KIF7, KMT2D, L2HGDH, LAMA2, LAMC3, LARGE, LGI1, LIAS, LMNB2, LRPPRC, MAGI2, MAN1B1, MAPK10, MBD5, MCOLN1, MCPH1, ME2, MECP2, MED12, MED17, MEF2C, MFSD8, MGAT2, MLC1, MLYCD, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MRE11A, MT-ATP6, MTHFR, MTOR, MYBPC1, NAGLU, NARS2, NDUFA1, NDUFA2, NDUFAF6, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NFIX, NHEJ1, NHLRC1, NIN, NIPA2, NOL3, NOTCH3, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NRXN1, NSD1, OFD1, OPHN1, PAFAH1B1, PAK3, PANK2, PC, PCBD1, PCCA, PCCB, PCDH19, PCNT, PDE6D, PDHA1, PDHX, PDSS1, PDSS2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP2, PGAP3, PGK1, PGM1, PHF6, PHGDH, PIGA, PIGG, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY, PIK3CA, PIK3R2, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNPO, POLG, POLR1C, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPT1, PQBP1, PRDM8, PRICKLE1, PRICKLE2, PRIMA1, PRODH, PRRT2, PSAP, PSAT1, PSPH, PTCH1, PTEN, PTS, PURA, PYCR2, QARS,QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAI1, RARS, RARS2, RBBP8, RBFOX1, RBFOX3, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, RPGRIP1L, RTTN, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO2, SDHA, SEPSECS, SERPINI1, SGCE, SGSH, SHH, SIK1, SIX3, SLC12A5,SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A3, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A1, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMPD1, SMS, SNAP29, SOX10, SPTAN1, SRD5A3, SRGAP2, SRPX2, ST3GAL3, ST3GAL5, STAMBP, STIL, STX1B, STXBP1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYP, SZT2, TACO1, TBC1D24, TBCE, TCF4, TCTN1, TCTN2, TCTN3, TGIF1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TMEM70, TPP1, TREX1, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUBG1, UBE2A, UBE3A, UBR5, VARS2, VDAC1, VLDLR, VPS11, VPS13A, VRK1, WDR45, WDR62, WWOX, ZEB2, ZIC2, ZNF335, ZNF423.