Epilepsy, Familial Adult Myoclonic, 5; Fame5

RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1, TCF4, JMJD1C, TSC1, TSC2, UBE3A, WWOX, YWHAG, FRRS1L, SLC12A5, CNTNAP2, CACNA1A, CACNA1H, PRDM8, CACNA2D2, CACNB4, NPRL3, PIGQ, CAD, CERS1, PCDH19, ARHGEF9, ZEB2, CASK, CASR, CBL, GPHN, ARHGEF15, PLCB1, DNAJC5, SLC19A3, EFHC1, LIAS, SCARB2, BCKDK, PRICKLE1, CPA6, TPK1, NGLY1, ARID1B, ARX, SPATA5, RBFOX1, ATP6AP2, PRIMA1, SETD2, DEPDC5, ZDHHC9, STX1B, IER3IP1, KCNT1, CHD2, DOCK7, DENND5A, CHRNA2, CHRNA4, CHRNB2, COQ4, SLC25A22, SNX27, CLCN4, PRICKLE2, MBD5, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, CLTC, NUS1, FARS2, ANKRD11, NHLRC1, SATB2, BRAT1, CNTN2, KPNA7, KCTD7, COL4A1, ABAT, SLC13A5, PIGO, UBA5, NECAP1, KANSL1, EHMT1, CSTB, NPRL2, CTSD, CARS2, GUF1, PIGG, RBFOX3, DDX3X, MFSD8, DIAPH1, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, NEXMIF, ROGDI, C12orf57, TBL1XR1, ARV1, DNM1, DNMT3A, HECW2, PACS1, PIK3AP1, STRADA, PNPO, PIGP, PRRT2, SRPX2, ALG13, DYRK1A, EEF1A2, EPM2A, FASN, FGF12, FLNA, FOLR1, FOXG1, MTOR, GABRA1, ALDH5A1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GAMT, GATM, GCSH, GLDC, GLRA1, GNAO1, GOSR2, GABBR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, AMT, HCN1, HCN2, HIVEP2, HNRNPU, AP3B2, ITPA, KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNMA1, KCNQ2, KCNQ3, LGI1, LMNB2, MDH2, MECP2, MEF2C, NAGA, NEDD4L, NF1, ATP1A2, NRXN1, ATP1A3, NTRK2, ALDH7A1, ATRX, SERPINI1, PIGA, PIGN, PNKD, PNKP, POLG, PPP2R1A, PPP3CA, PPT1, PLPBP, PTEN, PURA, QARS, RAB11A, RANBP2, RELN

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC1A3, SLC2A1, CACNA1A, CACNA1H, CACNB4, CASR, EFHC1, UBR5, NIPA2, CPA6, RBFOX1, DEPDC5, STX1B, KCNT1, CHRNA2, CHRNA4, CHRNB2, CLCN2, CNTN2, RBFOX3, TBC1D24, PRRT2, GABRA1, GABRB3, GABRD, GABRG2, AMACR, GRIN2A, KCNA1, KCNMA1, KCNQ2, KCNQ3, LGI1, ME2, ALDH7A1

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TCF4, UBE3A, CNTNAP2, CACNA1A, CACNA1H, CACNB4, PCDH19, ARHGEF9, ZEB2, CASK, CASR, DNAJC5, EFHC1, RAB39B, SCARB2, PRICKLE1, NIPA2, CPA6, ARX, PHF6, ATP6AP2, DEPDC5, STX1B, KCNT1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, PRICKLE2, MBD5, NHLRC1, CNTN2, KCTD7, KANSL1, CSTB, CUL4B, OFD1, DCX, DHFR, ADSL, TBC1D24, ROGDI, DYNC1H1, PRRT2, SRPX2, EPM2A, FGD1, FOXG1, GABRA1, GABRB3, GABRD, GABRG2, GOSR2, GPC3, GRIA3, GRIN2A, HSD17B10, KCNC1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, LGI1, ME2, MECP2, MEF2C, NRXN1, OPHN1, PAK3, ALDH7A1, ATRX, PIGA, PLP1, PQBP1

BCS1L, RYR3, SCN10A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCO2, SDHA, SGSH, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC17A5, SLC1A3, BRAF, SLC25A12, SLC25A15, SLC2A1, SLC35A1, SLC35A2, BRD2, SLC6A1, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMC1A, KDM5C, SMPD1, SMS, SNAP25, SNAP29, SIK1, SOS1, BTD, SPTAN1, CDKL5, STXBP1, SUOX, SURF1, BUB1B, SYN1, SYNGAP1, SYP, TBX1, TWNK, TCF4, TGIF1, MED12, TREX1, TSC1, TSC2, TUBA8, TUBB2A, UBE2A, UBE3A, KDM6A, VDAC1, VRK1, WWOX, ZIC2, MCOLN1, SLC4A10, SLC12A5, CNTNAP2, CACNA1A, CACNA1H, CACNA2D2, CACNB4, HDAC4, NSD1, PCDH19, SLC25A19, NPC2, ARHGEF9, ZEB2, CASK, CASR, CBL, SHOC2, GPHN, TSEN34, VANGL1, SETBP1, ARHGEF15, ALG9, LRPPRC, ARFGEF2, PANK2, PLCB1, SAMHD1, APTX, PCNT, DNAJC5, SLC19A3, EFHC1, LIAS, RAB39B, SCARB2, UBR5, COQ8A, HCN4, BCKDK, PRICKLE1, NIPA2, RAB3GAP1, MLC1, CDON, CPA6, CENPJ, ADGRV1, KAT6B, NDE1, ACY1, PDSS1, FKRP, ARX, PHF6, RBFOX1, ALG1, ATP6AP2, DEPDC5, ATP6V0A2, CELSR1, RNASEH2A, STX1B, COG7, COG8, CDK5RAP2, ATPAF2, KCNT1, MAGI2, ASPM, VPS13A, POMGNT1, CHD2, DOCK7, TNK2, ALG12, CHRNA2, CHRNA4, CHRNA7, CHRNB2, KCNV2, POMT2, SRGAP2, SLC25A22, CCDC88C, FLVCR2, SLC35C1, CLCN2, CLCN4, SPRED1, CLCNKA, CLCNKB, PRICKLE2, SUMF1, MBD5, L2HGDH, SCN3B, TPP1, CLN3, CLN5, TUBA1A, CLN6, CLN8, FARS2, RARS2, AHI1, NHLRC1, BRAT1, CNTN2, VPS13B, KPNA7, COL18A1, KCTD7, COL4A1, ADAR, COX10, COX15, PEX26, ABAT, GNPTG, PDSS2, ALG3, SLC13A5, ALG6, ALG2, ALG8, PIGO, CPT2, NTNG1, DOLK, KIF1BP, CRH, GNE, MED17, RNASEH2C, TACO1, BOLA3, WDR62, KANSL1, SMC3, CSTB, MOGS, TMEM216, COQ2, CTSD, COQ9, CTSF, ARL13B, CUL4B, OFD1, RNASEH2B, NHEJ1, PIGV, TMEM70, EFHC2, HGSNAT, C12orf65, RBFOX3, DCX, TSEN54, TMEM67, TSEN2, MFSD8, DHCR7, DHFR, NIPBL, WDR45, DLD, CEP290, SZT2, IQSEC2, ADSL, RPGRIP1L, TBC1D24, CC2D2A, CEP152, NEXMIF, ROGDI, C12orf57, TBL1XR1, DYNC1H1, GNPTAB, DNM1, DPAGT1, PIK3AP1, DPM1, DPM2, DPM3, DPYD, ATP13A2, RFT1, PNPO, PRRT2, SLC46A1, SRPX2, TUBB2B, ALG13, DYRK1A, AGA, EEF1A2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EPM2A, ETFA, ETFB, ETFDH, FASN, FKTN, FGD1, FGF8, FGFR3, FH, FLNA, FOLR1, FOXG1, AKT3, MTOR, ABCB1, FUCA1, ALDH4A1, GABRA1, ALDH5A1, GABRB2, GABRB3, GABRD, GABRG2, GALC, GALNS, GAMT, GATM, GCDH, GCSH, GFAP, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUD1, GNAO1, GNS, GOSR2, GPC3, GABBR2, AMACR, ADGRG1, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, GUSB, AMT, HSD17B10, HCN1, HCN2, HEXA, HEXB, ANK3, HNRNPH1, HNRNPU, HPD, HRAS, IDS, IDUA, ABCC8, KCNA1, KCNA2, KCNAB2, KCNB1, KCNC1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KRAS, LAMA2, LARGE1, LBR, COG1, LGI1, LIG4, ARG1, MAP2K1, MAP2K2, MAPK10, MCPH1, ME2, MECP2, MEF2C, MGAT2, ARSA, KMT2D, ARSB, MOCS1, MOCS2, MPDU1, MPI, MTHFR, ASNS, ASPA, NAGLU, NDUFA1, NDUFA2, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NEU1, NF1, NODAL, NOTCH3, NPC1, NPHP1, ATIC, NR2F1, NRAS, ATP1A2, NRXN1, ATP2A2, OPHN1, PAFAH1B1, PAK3, PAX6, PC, ALDH7A1, PDHA1, ATR, PEX1, PEX12, PEX14, PEX3, PEX6, ATRX, PEX7, PGK1, AUH, SERPINI1, PIGA, PLA2G6, PLP1, PMM2, PNKP, POLG, POMT1, B4GALT1, CTSA, PPT1, PQBP1, PRODH, PSAP, PTCH1, PTPN11, PURA, PEX2, PEX5, QARS, QDPR, RAF1, RAI1, RANGAP1, RELN