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פאנלים

Epilepsy

GC_23

Last update: 19.01.2026

Epilepsy is a heterogeneous group of disorders characterized by recurrent unprovoked seizures, which may arise from genetic abnormalities affecting neuronal excitability, synaptic function, metabolism, or brain development. Genetic epilepsies range from isolated seizure disorders to severe developmental and epileptic encephalopathies.

This panel includes genes associated with a broad spectrum of genetic epilepsies, including channelopathies, synaptic disorders, metabolic and mitochondrial epilepsies, developmental and epileptic encephalopathies, and neurodevelopmental disorders in which epilepsy is a major feature.

This panel is recommended for patients with unexplained epilepsy of any age, particularly those with early-onset seizures, developmental and epileptic encephalopathy, developmental delay or intellectual disability, structural brain abnormalities, or additional neurologic or neurodevelopmental features.
AARS1, AASS, ABAT, ABCA2, ABCD1, ACOX1, ACTL6B, ACY1, ADAM22, ADAR, ADARB1, ADAT3, ADD1, ADGRG1, ADGRL1, ADNP, ADPRS, ADSL, AFF3, AFG3L2, AGA, AGO1, AIFM1, AIMP1, AIMP2, AJAP1, AKT3, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMACR, AMPD2, AMT, ANK2, ANKRD11, ANO4, AP1G1, AP2M1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, ARF1, ARF3, ARFGEF1, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARID1B, ARSA, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASXL3, ATAD1, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP5F1A, ATP5PO, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP6V1A, ATP7A, ATRX, BAIAP2, BAP1, BCKDHA, BCKDHB, BCKDK, BCS1L, BLOC1S1, BOLA3, BORCS8, BRAF, BRAT1, BRSK1, BSCL2, BSN, BTD, C12ORF57, C12orf57, C2orf69, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1I, CACNA2D1, CACNA2D2, CACNB4, CAD, CAMK2B, CAMK2D, CAMSAP1, CAPRIN1, CARS2, CASK, CASR, CC2D1A, CC2D2A, CCDC88A, CCDC88C, CDC42BPB, CDK19, CDK5, CDK9, CDKL5, CELF2, CELF4, CEP85L, CERS1, CERT1, CHD2, CHD4, CHD5, CHKA, CHRNA2, CHRNA4, CHRNB2, CIC, CILK1, CLCN2, CLCN3, CLCN4, CLCN6, CLDN5, CLN2 , CLN3, CLN5, CLN6, CLN8, CLPB, CLTC, CNKSR2, CNNM2, CNOT9, CNPY3, CNTN2, CNTNAP2, COA7, COA8, COG3, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COLGALT1, COQ2, COQ4, COQ6, COQ9, COX10, COX11, COX15, COX6B1, CPA6, CPLX1, CPSF3, CPT2, CREBBP, CRELD1, CRNKL1, CRPPA, CSF1R, CSNK1G1, CSNK2B, CSTB, CTC1, CTNNA2, CTNNB1, CTSD, CTSF, CTU2, CUL3, CUL4B, CUX1, CUX2, CYFIP2, CYP27A1, D2HGDH, DALRD3, DARS1, DARS2, DBT, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DENND5B, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHRSX, DHX16, DHX30, DIAPH1, DLL1, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPH5, DPM1, DPM2, DPYD, DPYS, DROSHA, DTYMK, DYNC1H1, DYRK1A, EARS2, ECHS1, ECM1, EEF1A2, EEFSEC, EFHC1, EFTUD2, EHMT1, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A2, ELFN1, EMC1, EMC10, EML1, EMX2, ENTPD1, EPB41L3, EPG5, EPM2A, EPRS1, ESAM, ETFA, ETFB, ETFDH, ETHE1, EXOC7, EXOSC3, EXT2, FA2H, FAM126A, FAM50A, FAR1, FARS2, FASTKD2, FBXL4, FBXO11, FBXO28, FCSK, FDFT1, FDX2, FGF12, FGF13, FGFR3, FH, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXP1, FOXRED1, FRMD5, FRRS1L, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNT2, GAMT, GATAD2B, GATM, GCDH, GCH1, GCSH, GFAP, GFM1, GFM2, GJC2, GLB1, GLDC, GLI3, GLRA1, GLRA2, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNB1, GNB5, GNE, GOLGA2, GOSR2, GOT2, GPAA1, GPHN, GRIA2, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM7, GRN, GSS, GTF3C3, GTPBP2, GTPBP3, GUF1, H3-3A, H3-3B, HACE1, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HEATR5B, HECTD4, HECW2, HEPACAM, HERC2, HEXA, HEXB, HIBCH, HID1, HLCS, HMGCL, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPDL, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA1, HTRA2, IBA57, IER3IP1, IFIH1, IKBKG, INPP4A, IQSEC2, IRF2BPL, ITPA, JAKMIP1, JMJD1C, KARS1, KAT5, KAT8, KATNB1, KCNA1, KCNA2, KCNA3, KCNB1, KCNB2, KCNC1, KCNC2, KCND2, KCND3, KCNH1, KCNH2, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM5C, KDM6B, KIAA1109, KICS2, KIF1A, KIF2A, KIF5A, KIF5C, KIFBP, KLHL20, KMT2E, KPNA7, KPTN, KRAS, L2HGDH, LAMC3, LARGE1, LARS1, LETM1, LGI1, LIAS, LIPT1, LIPT2, LMAN2L, LMBRD2, LMNB1, LMNB2, LNPK, LRPPRC, LRRC45, LSS, LYRM7, LYST, MACF1, MADD, MAF, MAGI2, MANBA, MAP2K1, MAP2K2, MARK2, MARS2, MAST1, MAST3, MAST4, MBD5, MBOAT7, MDH1, MDH2, MECP2, MED11, MED12, MED17, MED27, MEF2C, MFF, MFSD8, MICAL1, MINPP1, MIPEP, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOCS3, MOGS, MPDU1, MRPL44, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTFMT, MTHFR, MTHFS, MTOR, MTR, NACC1, NAGA, NAGLU, NAPB, NARS1, NARS2, NBEA, NCDN, NDE1, NDP, NDST1, NDUFA1, NDUFA10, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NEUROD2, NEXMIF, NFU1, NGLY1, NHLRC1, NKX6-2, NOTCH3, NPC1, NPC2, NPRL2, NPRL3, NR2F1, NR4A2, NRROS, NRXN1, NSD1, NSDHL, NSF, NSRP1, NT5C2, NTRK2, NUBPL, NUP214, NUS1, OCLN, OFD1, OGDHL, OPHN1, OTUD6B, OTUD7A, OTX2, OXR1, P4HTM, PABPC1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PARP6, PARS2, PCCA, PCCB, PCDH12, PCDH19, PCDHGC4, PCLO, PCYT2, PDHA1, PDHX, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PGM2L1, PHACTR1, PHF6, PHGDH, PI4K2A, PIDD1, PIGA, PIGB, PIGC, PIGG, PIGH, PIGK, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3AP1, PIK3R2, PIP5K1C, PITRM1, PLA2G6, PLAA, PLCB1, PLK1, PLP1, PLPBP, PLXNA1, PMM2, PMPCB, PNKD, PNKP, PNPLA8, PNPO, PNPT1, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPFIBP1, PPIL1, PPOX, PPP1R3F, PPP2CA, PPP2R1A, PPP2R2B, PPP2R5C, PPP2R5D, PPP3CA, PPT1, PRDM8, PRICKLE1, PRICKLE2, PRIMA1, PRMT7, PRODH, PRPF8, PRRT2, PRUNE1, PSAP, PSAT1, PSPH, PTCD3, PTEN, PTF1A, PTPMT1, PTPN23, PTS, PUM1, PURA, PYCR2, QARS1, QDPR, RAB11A, RAB11B, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB5C, RAC3, RAI1, RALA, RALGAPA1, RANBP2, RARS1, RARS2, RBFOX1, RBFOX3, RELN, RFT1, RHEB, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, RNF2, RNF216, RNU2-2P, RNU4-2, RNU4ATAC, RNU5B-1, ROGDI, RORA, RORB, RPIA, RRM2B, RTN4IP1, RTTN, RUSC2, RYR2, RYR3, SAMD12, SAMHD1, SARS1, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SEMA6B, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD1A, SETD1B, SETD5, SGCE, SGSH, SHQ1, SIK1, SIX3, SLC12A5, SLC13A3, SLC13A5, SLC16A2, SLC19A3, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A42, SLC2A1, SLC31A1, SLC32A1, SLC35A1, SLC35A2, SLC35A3, SLC38A3, SLC39A8, SLC45A1, SLC46A1, SLC4A10, SLC5A6, SLC6A1, SLC6A5, SLC6A8, SLC7A6OS, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMS, SNAP25, SNF8, SNIP1, SNORD118, SNX27, SOX10, SPATA5, SPATA5L1, SPOUT1, SPR, SPTAN1, SPTBN1, SPTBN4, SRPX2, SSR4, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STARD7, STRADA, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SV2A, SYN1, SYNCRIP, SYNGAP1, SYNJ1, SZT2, TAF1, TAF8, TANC2, TANGO2, TARS2, TBC1D20, TBC1D24, TBC1D2B, TBCD, TBCE, TBCK, TBL1XR1, TCF4, TDP2, TEFM, TELO2, TET3, TFE3, TH, TIAM1, TIMM50, TK2, TMEM106B, TMEM167A, TMEM222, TMEM63B, TMEM70, TMX2, TNK2, TNPO2, TPK1, TPP1, TRA2B, TRAF7, TRAK1, TRAPPC12, TRAPPC4, TRAPPC6B, TREX1, TRIM8, TRIP13, TRIT1, TRPM3, TRPM6, TRPM7, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TTC19, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TXNRD1, U2AF2, UBA5, UBAP2L, UBE2A, UBE3A, UBR5, UBR7, UBTF, UFC1, UFM1, UFSP2, UGDH, UGGT1, UGP2, UNC13A, UNC80, USP18, USP25, USP7, VAMP2, VARS1, VLDLR, VPS11, VPS13A, VPS50, WARS2, WASF1, WDR26, WDR37, WDR45, WDR45B, WDR47, WDR62, WDR73, WNK3, WWOX, XK, YIF1B, YIPF5, YWHAG, YY1, ZBTB18, ZBTB47, ZDHHC9, ZEB2, ZFYVE26, ZMIZ1, ZMYM2, ZNF142, ZNF335, ZNFX1, ZNHIT3, ZSWIM6

ClinVar P/LP variants (IDs) not covered: ANKRD11:[1341548] | ARID1B:[3378371] | ASXL3:[4291910] | CTNNB1:[4293194] | GABRG2:[3757681] | GNE:[4068787] | HPRT1:[4532158] | KDM5C:[4281593] | LYST:[3602577] | OFD1:[375728] | PAH:[242452] | PEX14:[3663959] | PTEN:[2587202] | RAI1:[1321231] | SCN1A:[4538527] | SERAC1:[4526663] | SSR4:[1878509] | TK2:[3778875] | WWOX:[4294336] | ZEB2:[3770192]

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