Gene List:
ABAT, ABCD1, ACTL6B, ACY1, ADAM22, ADAR, ADGRG1, ADGRV1, ADSL, AGA, AIFM1, ALDH5A1, ALDH7A1, ALG13, AMACR, AMT, ANKRD11, AP3B2, ARFGEF2, ARG1, ARHGEF9, ARID1B, ARSA, ARX, ASAH1, ASNS, ASPA, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATRX, BCKDK, BRAT1, BTD, C12orf57, CACNA1A, CACNA1B, CACNA1D, CACNA1H, CACNA2D2, CACNB4, CARS2, CASK, CASR, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CLTC, CNPY3, CNTN2, CNTNAP2, COL18A1, COL4A1, COX15, CPA6, CPT2, CRH, CSTB, CTNNB1, CTSD, CTSF, CUL4B, CYFIP2, DCX, DDX3X, DENND5A, DEPDC5, DHCR7, DHFR, DNAJC5, DNM1, DOCK7, DPYD, DYRK1A, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A, ETFDH, FARS2, FGF12, FH, FKTN, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GALC, GAMT, GATM, GCDH, GFAP, GLB1, GLDC, GLRA1, GLRB, GNAO1, GNB1, GNE, GOSR2, GPAA1, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HCN2, HECW2, HNRNPU, HSD17B10, IER3IP1, IQSEC2, IRF2BPL, ITPA, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNH2, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KDM6A, KIAA2022, L2HGDH, LGI1, LIAS, LRPPRC, MAGI2, MBD5, MDH2, MECP2, MED12, MED17, MEF2C, MFSD8, MLC1, MOCS1, MTFMT, MTHFR, MTOR, NACC1, NDST1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NEXMIF, NF1, NGLY1, NHLRC1, NOTCH3, NPRL3, NR2F1, NRXN1, NSD1, NUS1, OFD1, OPHN1, PACS1, PAFAH1B1, PAK3, PCDH19, PGK1, PHF6, PIGA, PIGG, PIGN, PIGO, PIGP, PIGT, PIGV, PIGW, PLAA, PLCB1, PLP1, PLPBP, PNKP, PNPO, POLG, POMT1, POMT2, PPP3CA, PPT1, PQBP1, PRICKLE1, PRIMA1, PRODH, PRRT2, PSAP, PURA, QARS, QDPR, RAB39B, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RORB, SAMHD1, SATB2, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERPINI1, SETBP1, SIK1, SLC12A5, SLC13A5, SLC17A5, SLC19A3, SLC25A12, SLC25A15, SLC25A22, SLC2A1, SLC35A2, SLC46A1, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMS, SNAP25, SPATA5, SPTAN1, ST3GAL3, ST3GAL5, STRADA, STX1B, STXBP1, SUMF1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBL1XR1, TCF4, TNK2, TPK1, TPP1, TREX1, TSC1, TSC2, TUBA1A, TUBA8, TUBB2A, TUBB2B, UBA5, UBE2A, UBE3A, UNC80, VPS13A, WASF1, WDR45, WWOX, ZEB2
References:
Baldassari S, et al. GATOR1 complex: the common genetic actor in focal epilepsies. J Med Genet. 2016 Aug;53(8):503-10.
Boerma RS, et al. Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. Neurotherapeutics. 2016 Jan;13(1):192-7.
Hildebrand MS, et al. A targeted resequencing gene panel for focal epilepsy. Neurology. 2016 Apr 26;86(17):1605-12.
Mikati MA, et al. Quinidine in the treatment of KCNT1-positive epilepsies. Ann Neurol. 2015 Dec;78(6):995-9.
Palavra F, et al. Recent Advances and Challenges of mTOR Inhibitors Use in the Treatment of Patients with Tuberous Sclerosis Complex. Oxid Med Cell Longev. 2017;2017:9820181.
Scheffer IE, et al. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017 Apr;58(4):512-521.
