Epileptische Enzephalopathien, umfassende Diagnostik : 163 Gene (371,868 kb)

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, SLC1A2, SLC2A1, SLC6A8, SLC6A9, SLC9A6, SLC12A5, SLC13A5, SLC19A3, SLC25A1, SLC25A12, SLC25A22, SLC35A2, SLC38A3, SMC1A, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCD, TBCE, TCF4, TPK1, TRAK1, TREX1, UBA5, UGDH, UGP2, WDR45, WWOX, YWHAG