Neurologia e neuropediatria

Encefalopatias epiléticas alargado

Lista de Genes
AARS1, ACTL6B, ACY1, ADAM22, ADGRV1, ADPRS, ADSL, AFF3, AKT3, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARFGEF2, ARHGEF15, ARHGEF9, ARV1, ARX, ATN1, ATP1A2, ATP6AP2, AUH
BCKDK, BRAT1, BSCL2
CACNA1A, CACNA1B, CACNA1G, CACNA1H, CACNA2D2, CACNB4, CAD, CDK5, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNPY3, CNTNAP2, COL4A1, COL4A2, COX15, CPA6, CPLX1, CPT2, CRADD, CSF1R, CSNK2B, CSTB, CTSD, CTSF, CUX2
DARS2, DBT, DCX, DENND5A, DEPDC5, DHPS, DMXL2, DNAJC5, DNM1, DNM1L, DOCK7, DYNC1H1, DYRK1A
EEF1A2, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EPM2A, ERBB4, ETHE1
FADD, FARS2, FBXL4, FGF12, FGF13, FGFR1, FLNA, FOLR1, FOXG1, FRRS1L
GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GATM, GCSH, GLDC, GLI2, GLS, GNAO1, GOSR2, GOT2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GUF1
HCN1, HCN2, HEPACAM, HNRNPU, HTRA1
IQSEC2, IRF3, ITPA
KANSL1, KARS1, KATNB1, KCNA2, KCNB1, KCNH2, KCNH5, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD7, KPNA7
LAMB1, LGI1, LIAS, LIPT2
MAGI2, MBD5, MDH2, MECP2, MEF2C, MFF, MFSD8, MLC1, MTOR
NAXE, NBEA, NDE1, NDP, NECAP1, NEDD4L, NHLRC1, NOTCH3, NPRL2, NR2F1, NRXN1, NTRK2
PAFAH1B1, PARS2, PCDH19, PIGA, PIGB, PIGP, PIGQ, PIGV, PIK3CA, PIK3R2, PLCB1, PNKP, PNPO, POLG, PPP3CA, PPT1, PRICKLE1, PRRT2, PTCH1, PTEN, PTPN23
QARS1
RANBP2, RBFOX1, RBFOX3, RELN, RNASET2, RNF13, ROGDI, RRM2B
SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO2, SERAC1, SERPINI1, SETD1B, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC6A9, SLC9A6, SMC1A, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STRADA, STX1B, STXBP1, SUCLA2, SYN1, SYNGAP1, SYNJ1, SZT2
TANGO2, TBC1D24, TBC1D7, TBCD, TBCE, TCF4, TMTC3, TNK2, TPK1, TPP1, TRAF3, TRAPPC12, TSC1, TSC2, TUBA1A
UBA5, UBE3A, UGP2
WDR45, WWOX
YWHAG
ZEB2, ZNF142
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída