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 (591 Gene)
A2M, AARS, AARS2, ABAT, ABCC8, ABCD1, ACTB, ACTG1, ACY1, ADAM22, ADAR, ADCK3, ADK, ADRA2B, ADSL, AFG3L2, AGA, AGK, AHI1, AIMP1, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMT, AP3B2, APTX, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARL13B, ARSA, ARSB, ARV1, ARX, ASAH1, ASPA, ASPM, ATIC, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATP6V0A2, ATPAF2, ATR, ATRX, AUH, B4GALT1, BCKDHA, BCKDHB, BCKDK, BCS1L, BRAT1, BSCL2, BTD, BUB1B, C10ORF2≙TWNK, C12ORF57, C12ORF65, C19ORF12, C5ORF42, CACNA1A, CACNA1D, CACNA1H, CACNB4, CAD, CARS2, CASC5≙KNL1, CASK, CASR, CC2D2A, CDK5RAP2, CDKL5, CDON, CENPJ, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CERS1, CHD2, CHD8, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CIC, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CLTC, CNNM2, CNPY3, CNTN2, CNTNAP2, COG1, COG4, COG5, COG6, COG7, COG8, COL4A1, COQ2, COQ4, COQ6, COQ9, COX10, COX15, CP, CPA6, CPLX1, CPT2, CSTB, CTSA, CTSD, CTSF, CUL4B, CYFIP2, D2HGDH, DARS2, DBT, DCAF17, DCHS1, DCX, DDOST, DENND5A, DEPDC5, DGUOK, DHCR24, DHCR7, DHFR, DIAPH1, DLD, DNAJC5, DNM1, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DYNC1H1, DYRK1A, EARS2, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EML1, EMX2, EOMES, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, EZH2, FA2H, FAM126A, FARS2, FAT4, FBXL4, FGF12, FH, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FRRS1L, FTL, FUCA1, GABBR2, GABRA1, GABRB1, GABRB3, GABRD, GABRG2, GALC, GALNS, GAMT, GATM, GCDH, GCH1, GCK, GCSH, GFAP, GFM1, GJC2, GLB1, GLDC, GLI2, GLRA1, GLRB, GLUD1, GLUL, GLYCTK, GNAO1, GNB1, GNE, GNPTAB, GNPTG, GNS, GOSR2, GPAA1, GPC3, GPHN, GPR56, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GSS, GUF1, GUSB, HACE1, HADH, HAX1, HCN1, HDAC4, HEPACAM, HEXA, HEXB, HGSNAT, HLCS, HMGCL, HNRNPH1, HNRNPH2, HNRNPU, HPD, HSD17B10, HSPD1, HTRA2, HYAL1, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, INPP5E, IQSEC2, ISPD, ITPA, IVD, JRK, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH5, KCNJ10, KCNJ11, KCNK18, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD17, KCTD7, KDM5C, KDM6A, KIAA1279, KIAA2022, KIF2A, KIF5C, KIF7, KMT2D, L2HGDH, LAMA2, LAMC3, LARGE≙LARGE1, LGI1, LIAS, LMNB2, LRPPRC, MAGI2, MAN1B1, MAPK10, MBD5, MCOLN1, MCPH1, MDH2, ME2, MECP2, MED12, MED17, MEF2C, MFF, MFSD8, MGAT2, MGME1, MLC1, MLYCD, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MRE11A, MT-ATP6, MTHFR, MTOR, MYBPC1, NACC1, 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, NTRK2, 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, PIGP, 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, PROSC≙PLPBP, PRRT2, PSAP, PSAT1, PSPH, PTCH1, PTEN, PTS, PURA, PYCR2, QARS, QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAI1, RANBP2, RARS, RARS2, RBBP8, RBFOX1, RBFOX3, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, RPGRIP1L, RRM2B, RTTN, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO2, SDHA, SEPSECS, SERPINI1, SETD5, SGCE, SGSH, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A3, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC25A4, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMPD1, SMS, SNAP29, SOX10, SPTAN1, SRD5A3, SRGAP2, SRPX2, ST3GAL3, ST3GAL5, STAMBP, STIL, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TACO1, TBC1D24, TBCE, TCF4, TCTN1, TCTN2, TCTN3, TFAM, TGIF1, TK2, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TMEM70, TPP1, TRAK1, TREX1, TRPM6, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUBG1, TYMP, UBA5, UBE2A, UBE3A, UBR5, VARS2, VDAC1, VLDLR, VPS11, VPS13A, VRK1, WDR45, WDR45B, WDR62, WWOX, YWHAG, ZEB2, ZIC2, ZNF335 und ZNF423.
