PEPILE - PAINEL DE EPILEPSIAS

Epilepsia é o termo que designa um conjunto de Síndromes Neurológicas Crônicas que decorrem de alteração das funções cerebrais, podendo estar associada outras patologias. Existem, portanto, diversos tipos de epilepsia, que podem ser divididas em três tipos: sintomáticas, criptogênicas e idiopáticas. Sendo as do tipo idiopática compreendidas como tendo background genético, que é complexo, ou seja, envolve múltiplos genes. Este painel realiza o sequenciamento de genes associados à Epilesia.

Epilepsia

AARS1, ABAT, ACER3, ACTL6B, ACY1, ADAM22, ADAR, ADGRG1, ADGRV1, ADNP, ADPRS, ADSL, AFF3, AGO1, AIMP1, AIMP2, ALDH5A1, ALDH7A1, ALG1, ALG12, ALG13, ALG14, ALG3, ALG6, ALG9, AMACR, AMT, ANKRD11, AP1G1, AP2M1, AP3B2, ARF1, ARFGEF2, ARG1, ARHGEF9, ARID1B, ARSA, ARV1, ARX, ASAH1, ASNS, ASPA, ATAD1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP6AP2, ATP6V0A2, ATP6V0C, ATP6V1A, ATP7A, ATP8A2, ATRX, BCKDK, BOLA3, BRAF, BRAT1, BSCL2, BTD, C12orf57, C2orf69, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1I, CACNA2D2, CACNB4, CAD, CAMK2A, CAMK2B, CARS2, CASK, CASR, CCDC88A, CDK19, CDK5, CDKL5, CERS1, CHD2, CHD5, CHRNA2, CHRNA4, CHRNB2, CIC, CILK1, CLCN2, CLCN3, CLCN4, CLCN6, CLDN5, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNNM2, CNPY3, CNTN2, CNTNAP2, COG5, COG7, COL18A1, COL4A1, COL4A2, COQ2, COQ4, CPA6, CPLX1, CRELD1, CSNK2B, CSTB, CTNNB1, CTSD, CTSF, CUL4B, CUX2, CYFIP2, CYP27A1, D2HGDH, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHCR7, DHDDS, DHFR, DHPS, DIAPH1, DLAT, DMXL2, DNAJC5, DNM1, DNM1L, DOCK7, DPAGT1, DPM1, DYNC1H1, DYRK1A, EARS2, ECHS1, EEF1A2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EMC1, EML1, EMX2, EPG5, EPM2A, ETHE1, EXT2, FAR1, FARS2, FBXO11, FDFT1, FGF12, FGF13, FKTN, FLNA, FOLR1, FOXG1, FOXP1, FRRS1L, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GALC, GAMT, GATAD2B, GATM, GBA1, GCH1, GCSH, GFAP, GFM1, GLB1, GLDC, GLRA1, GLRB, GLS, GLUD1, GM2A, GNAO1, GNB1, GOSR2, GOT2, GPAA1, GPHN, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GTPBP3, HACE1, HCN1, HCN2, HDAC8, HECW2, HEPACAM, HEXA, HEXB, HNRNPU, IER3IP1, IFIH1, IQSEC2, IRF2BPL, ITPA, KANSL1, KAT5, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD17, KCTD3, KCTD7, KDM5C, KIF1A, KIF2A, KIF5A, KIF5C, KMT2E, KPNA7, KPTN, LAMB1, LAMC3, LGI1, LIAS, LMBRD2, LMNB2, MACF1, MAST3, MBD5, MBOAT7, MDH2, MECP2, MED12, MED17, MEF2C, MFSD8, MLC1, MOCS1, MOCS2, MOGS, MPDU1, MTHFR, MTOR, NACC1, NAGLU, NALCN, NARS1, NBEA, NCDN, NDE1, NDUFAF5, NDUFS4, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEUROD2, NEXMIF, NGLY1, NHLRC1, NHLRC2, NPC1, NPC2, NPRL2, NPRL3, NR4A2, NRXN1, NSD1, NSDHL, NTRK2, NUS1, OCLN, OPHN1, OSGEP, OTUD6B, P4HTM, PACS1, PACS2, PAFAH1B1, PCDH12, PCDH19, PCDHGC4, PCLO, PDE2A, PDHA1, PDHX, PDP1, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHACTR1, PHGDH, PIGA, PIGB, PIGC, PIGF, PIGG, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGV, PIGW, PIK3C2B, PLAA, PLCB1, PLPBP, PNKD, PNKP, PNPO, PNPT1, POLG, POLG2, POMT1, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PRDM8, PRICKLE1, PRICKLE2, PRIMA1, PRMT7, PRRT2, PSAP, PSAT1, PSPH, PTEN, PTPN23, PURA, QARS1, QDPR, RAB11A, RAB11B, RAB39B, RAB3GAP1, RAC3, RAI1, RALA, RANBP2, RBFOX1, RELN, RFT1, RHOBTB2, RNASEH2A, RNASEH2B, RNASEH2C, RNF13, ROGDI, RORB, RPH3A, RTN4IP1, RTTN, RUSC2, SAMHD1, SARS1, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCP2,