NGS analýza - Epilepsie
AARS, ABAT, ACOX1, ACY1, ADGRG1, ADSL, AFG3L2, AHI1, AIFM1, AIMP1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, AMT, ANKRD11, AP3B2, ARFGEF2, ARG1, ARHGEF9, ARV1, ASAH1, ASNS, ASPM, ATIC, ATN1, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A2, AUH, BCKDK, BCS1L, BOLA3, BRAF, BRAT1, BUB1B, CACNA1A, CACNA1D, CACNA1E, CACNA1H, CACNA2D2, CACNB4, CASK, CASR, CCDC88C, CDK19, CDKL5, CIC, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNKSR2, CNPY3, CNTNAP2, COG7, COG8, COL4A1, COL4A2, COQ2, COQ8A, COQ9, COX10, COX15, COX6B1, CPA6, CPT2, CSF1R, CSTB, CTC1, CTSD, CTSF, CUL4B, CUX2, D2HGDH, DCX, DENND5A, DEPDC5, DIAPH1, DNAJC5, DNM1, DNM1L, DOCK7, DOLK, DPM1, DPM2, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, ECM1, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EML1, EMX2, EPG5, EPM2A, ETHE1, EXOSC3, FA2H, FAR1, FARS2, FASTKD2, FH, FLNA, FOLR1, FOXG1, FUT8, GABBR2, GABRA1, GABRA2, GABRA5, GABRB3, GABRG2, GALC, GAMT, GCDH, GCK, GCSH, GFAP, GLB1, GLDC, GLI2, GLRA1, GLS, GLUL, GLYCTK, GM2A, GNAO1, GOSR2, GPHN, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, HACE1, HAX1, HCFC1, HCN1, HEPACAM, HEXA, HGSNAT, HIBCH, HNRNPU, HSD17B10, HSD17B4, HSPD1, HTRA2, HTT, CHD2, CHRNA2, CHRNA4, CHRNB2, IBA57, IDH2, IDS, IER3IP1, IQSEC2, ITPA, KANSL1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1A, KIF2A, KIF5C, KMT2E, L2HGDH, LAMA2, LGI1, LIAS, LRPPRC, MAP2K1, MBD5, MBOAT7, MCPH1, MDH2, MECP2, MED17, MEF2C, MFSD8, MLC1, MOCS1, MOCS2, MOGS, MPDU1, MTFMT, MTHFR, MTOR, MTR, NARS2, NDE1, NDUFA1, NDUFAF5, NDUFAF6, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NF1, NGLY1, NHLRC1, NPC1, NRXN1, NSDHL, NTRK2, NUBPL, OCLN, OPHN1, PAFAH1B1, PARS2, PC, PCDH19, PDHA1, PDHX, PDSS2, PEX1, PEX10, PEX12, PEX13, PEX14, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHACTR1, PHF6, PHGDH, PIGN, PIGO, PIGQ, PIGT, PIGV, PIGW, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNPO, POLG, POMT2, PPP3CA, PPT1, PQBP1, PRICKLE1, PRMT7, PRODH, PRRT2, PSAP, PSAT1, PTPN11, PTPN23, PTS, PURA, PYCR2, QARS, RAB39B, RAB3GAP1, RARS2, RELN, RFT1, RMND1, RNASEH2A, RNASEH2B, RNASET2, ROGDI, RTTN, SAMHD1, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO1, SCO2, SDHAF1, SEPSECS, SERAC1, SERPINI1, SETBP1, SIX3, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC1A3, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SNIP1, SPTAN1, ST3GAL3, STAG1, STAMBP, STIL, STRADA, STX1B, STXBP1, SUCLA2, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TACO1, TBC1D24, TBCE, TBCK, TCF4, TPP1, TRAK1, TREX1, TRPM6, TSC1, TSC2, TSEN2, TSEN54, TUBA1A, TUBB2A, TUBB2B, TUBG1, TWNK, UBE2A, UBE3A, UNC80, VLDLR, WDR45, WDR45B, WDR62, WWOX, ZBTB18, ZDHHC9, ZEB2