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,

SERPINI1, SETBP1, SETD1B, SGCE, SGSH, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC32A1, SLC35A2, SLC35A3, SLC45A1, SLC6A1, SLC6A5, SLC6A8, SLC6A9, SLC9A6, SMARCA2, SMC1A, SMS, SNAP25, SNIP1, SNX27, SPTAN1, SPTBN1, ST3GAL3, ST3GAL5, STAG2, STRADA, STX1B, STXBP1, STXBP2, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SZT2, TANGO2, TBC1D24, TBCD, TBCK, TBL1XR1, TCEAL1, TCF4, TH, TIAM1, TK2, TMTC3, TNPO2, TPK1, TPP1, TRAPPC6B, TREX1, TRIM8, TRIO, TSC1, TSC2, TSFM, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBG1, UBA5, UBE2A, UBE3A, UBR7, UBTF, UFC1, UFM1, UNC79, UNC80, VARS1, VRK2, WASF1, WDR37, WDR45, WDR45B, WWOX, YWHAG, ZDHHC9, ZEB2, ZNF142, ZSWIM6