Painel Genético para Epilepsia

Descrição

As epilepsias formam um grupo de síndromes neurológicas crônicas, decorrentes de alterações das funções cerebrais, associadas ou não a outras condições patogênicas. As síndromes epilépticas são divididas em sintomáticas, criptogênicas e idiopáticas. As síndromes epilépticas iniciadas na infância podem provocar sequelas neurológicas graves, dependendo de sua evolução clínica. Entre elas estão a epilepsia Rolândica, síndrome de Lennox-Gastaut, síndrome de West, síndrome de Rett, síndrome de Angelman e síndrome de Dravet.

Genes analisados: AARS, ABAT, ACTL6B, ACY1, ADAM22, ADAR, ADGRG1 (GPR56), ADGRV1 (GPR98), ADRA2B, ADSL, AIMP2, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMT, AP3B2, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARID1B, ARV1, ARX, ASAH1, ASPA, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATP6V0A2, ATP6V1A, ATP7A, ATRX, BCKDK, BCS1L, BOLA3, BRAF, BRAT1, BSCL2, BTD, C12orf57, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1H, CACNA2D2, CACNB4, CAD, CARS2, CASK, CASR, CBL, CC2D2A, CCDC88A, CCDC88C, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CIC, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CLTC, CNNM2, CNPY3, CNTN2, CNTNAP2, COG7, COG8, COL18A1, COL4A1, COL4A2, COQ2, COQ9, COX10, COX15, CPA6, CPLX1, CRH, CSTB, CTSD, CTSF, CUL4B, CYFIP2, DCX, DDX3X, DEAF1, DENND5A, DEPDC5, DHCR7, DHDDS, DIAPH1, DNAJC5, DNM1, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPYD, DYNC1H1, DYRK1A, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EML1, EMX2, EPG5, EPM2A, EXT2, FARS2, FASN, FGF12, FGFR3, FH, FKRP, FKTN, FLNA, FOLR1, FOXG1, FRRS1L, FUCA1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GALC, GAMT, GATM, GBA, GCSH, GFAP, GLB1, GLDC, GLI3, GLRA1, GLRB, GLUD1, GM2A, GNAO1, GNB1, GOSR2, GPAA1, GPHN, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, HACE1, HCN1, HCN2, HECW2, HEXA, HEXB, HNRNPU, HRAS, IER3IP1, IQSEC2, IRF2BPL, ITPA, KANSL1, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNH2, KCNH5, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD3, KCTD7, KDM5C, KIAA2022, KIFBP (KIAA1279), KPNA7, KPTN, KRAS, LARGE1 (LARGE), LGI1, LIAS, LMNB2, MAGI2, MAP2K1, MAP2K2, MAPK10, MBD5, MDH2, MECP2, MED12, MED17, MEF2C, MFSD8, MLC1, MOCS1, MOCS2, MOGS, MPDU1, MTHFR, MTOR, NACC1, NAGA, NDE1, NDP, NDUFA1, NDUFA2, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NF1, NGLY1, NHLRC1, NPC1, NPC2, NPRL2, NPRL3, NRXN1, NSD1, NSDHL, NTRK2, NUS1, OCLN, OPHN1, OTUD6B, PACS1, PACS2, PAFAH1B1, PAK3, PCDH12, PCDH19, PDHA1, PDHX, PDSS2, PEX1, PEX12, PEX2, PEX3, PEX5, PEX6, PEX7, PHGDH, PIGA, PIGC, PIGG, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGV, PIGW, PIK3AP1, PLAA, PLCB1, PLPBP (PROSC), PMM2, PNKP, PNPO, POLG, POLG2, POMGNT1, POMT1, POMT2, PPP3CA, PPT1, PQBP1, PRDM8, PRICKLE1, PRICKLE2, PRMT7, PRODH, PRRT2, PSAP, PSAT1, PSMB8, PSPH, PTCH1, PTEN, PTPN23, PURA, QARS, QDPR, RAB11A, RAB39B, RAB3GAP1, RARS2, RBFOX1, RBFOX3, RELN, RFT1, RHOBTB2, RNASEH2A, RNASEH2B, RNASEH2C, RNF13, ROGDI, RORB, RTN4IP1, RTTN, RYR3, SAMHD1, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SCO2, SDHA, SERPINI1, SETBP1, SETD2, SGCE, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC17A5, SLC19A3, SLC1A2, SLC25A12, SLC25A19, SLC25A22, SLC2A1, SLC35A1, SLC35A2, SLC35A3, SLC45A1, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMS, SNAP25, SNIP1, SPATA5, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STIL, STRADA, STX1B, STXBP1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCD, TBL1XR1, TCF4, TMEM70, TNK2, TPP1, TRAPPC6B, TREX1, TRIO, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBG1, UBA5, UBE2A, UBE3A, UFC1, UFM1, UNC80, VLDLR, WASF1, WDR45, WDR45B, WWOX, YWHAG, ZDHHC9, ZEB2 e ZIC2.