Painel de Epilepsia P EPIL
Instruções para paciente
O Painel de Epilepsia investiga mutações em 245 genes:AARS, ACER3, ADAM22, ADGRV1, ADRA2B , ADSL, AIMP2, ALDH7A1,
ALG13, AMT, AP3B2, ARHGEF9, ARV1, ARX, ASAH1, ATP13A2, ATP1A2,
ATP6V1A, ATP7A, ATP8A2, BRAF, BRAT1, BSCL2, CACNA1A, CACNA1D,
CACNA1E, CACNB4, CASK, CASR, CCDC88A, CDK5, CDKL5, CERS1 ...
CES1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLDN5, CLN3, CLN5,
CLN6, CLN8, CLTC, CNNM2, CNPY3, CNTN2, CNTNAP2, CPA6, CPLX1,
CSTB, CTSD, CYFIP2, DCX, DEAF1, DENND5A, DEPDC5, DHDDS, DIAPH1,
DIP2A, DLAT, DNAJC5, DNM1, DOCK7, EEF1A2, EFHC1, EIF2S3, EMX2,
EPM2A, EXT2, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRA2,
GABRA3, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2, GAMT, GATM,
GBA, GCSH, GLDC, GNAO1, GOSR2, GPAA1, GRIA4, GRIN1, GRIN2A,
GRIN2B, GRIN2D, GRN, HACE1, HCN1, HECW2, HNRNPU, ICK, IER3IP1,
ITPA , KANSL1, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNMA1,
KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD17, KCTD3, KCTD7, LAMB1, LGI1,
LIAS, LMNB2, MARCH6, MBD5, MDH2, MECP2, MED17, MEF2C, MFSD8,
MOCS1, MOCS2, NACC1, NDE1, NECAP1, NHLRC1, NPC1, NPC2, NPRL2,
NPRL3, NR4A2, NRXN1, NTRK2, NUS1, OTUD6B, PACS2, PAFAH1B1, PCDH12,
PCDH19, PDHA1, PDHX, PDP1, PIGA, PIGC , PIGN, PIGP, PIGT, PLAA, PLCB1,
PLPBP, PNKP, PNPO, POLG, POLG2, PPP3CA, PPT1, PRDM8, PRICKLE1,
PRICKLE2, PRRT2, PTPN23, QARS, RAB11A, RAPGEF2, RBFOX1, RELN, RHOBTB2, ROGDI,
RORB, RPH3A, RTN4IP1, RTTN, SAMD12, SARS, SCARB2, SCN1A, SCN1B, SCN2A,
SCN3A, SCN8A, SCN9A, SGCE, SHANK3, SHH, SIK1, SIX3, SLC12A5, SLC13A5,
SLC25A22, SLC2A1, SLC35A3, SLC45A1, SLC6A1, SLC6A8, SLC6A9, SLC9A6, SMC1A,
SMS , SNAP25, SNIP1, SPATA5, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STARD7, STRADA,
STX1B, STXBP1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCD, TCF4, TMTC3,
TNRC6A, TPP1, TRIO, TSC1, TSC2, TUBA1A, UBA5, UBE3A, UFC1, UFM1, VARS, VRK2,
WASF1, WDR45B, WWOX, YWHAG, ZEB2.