Richet

Richet

Richet

21 99194-8777
(21) 3184-3000

EPILEPSIA PAINEL (299 GENES)


1Instruções

- Informação clínica do paciente.
- Cópia da historia clínica familiar (se aplicável).
- Enviar consentimento e questionário específico

AARS ABAT ABCC8 ACY1 ADAR ADRA2B ADSL ALDH4A1 ALDH5A1 ALDH7A1 ALG11 ALG13 AMT AP1S2
AP4E1 ARFGEF2 ARG1 ARHGEF9 ARX ASAH1 ASPM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP6AP2
ATP7A ATRX AUH BCKDHB BCKDK BCS1L BRAF BRAT1 BRWD3 BTD C10orf2 C12orf57 CACNA1A
CACNA1H CACNA2D1 CACNB4 CARS2 CASK CASR CBL CDKL5 CERS1 CERS1 CHD2 CHRNA2 CHRNA4
CHRNA7 CHRNB2 CLCN2 CLCN4 CLN2 (TPP1) CLN3 CLN5 CLN6 CLN8 CNTNAP2 COG6 COQ2
COQ4 COX6B1 CPA6 CPS1 CPT2 CSNK1G1 CSTB CTSD CUL4B D2HGDH DCX DEAF1 DIAPH1
DKC1 DLD DLG3 DNAJC5 DNAJC6 DNM1 DOCK6 DOLK DYNC1H1 DYRK1A EEF1A2 EFHC1 EHMT1
EIF2B1 EIF2B5 EPHX1 EPM2A FARS2 FASN FLNA FOLR FOXG1 FOXRED1 FTSJ1 FUCA1 GABBR1 GABRA1
GABRA5 GABRA6 GABRB1 GABRB2 GABRB3 GABRD GABRE GABRG1 GABRG2 GABRG3
GABRP GABRQ GABRR1 GABRR2 GABRB3 GAD2 GAMT GATM GBA GCK GCSH GDI1 GFAP
GK GLB1 GLDC GLRA1 GLRB GLUL GLYCTK GNAO1 GOSR2 GPHN GPR56 GRIA3 GRIN1 GRIN2A GRIN2B
GRN HAX1 HCN1 HCN2 HCN4 HEPACAM HEXA HNRNPU HSD17B10 IER3IP1 IL1RAPL1
IQSEC2 ITPA JMJD1C KANSL1 KCNA1 KCND2 KCNH2 KCNJ1 KCNJ10 KCNJ11 KCNMA1 KCNQ1 KCNQ2 KCNQ3 KCNT1 KCTD7 KDM5C, KIAA2022 KIF1A KIF2A KIF5C LGI1 LIAS LMNB2 MAGI2 MAOA MAPK10 MBD5 MBTPS2 MCCC2 MECP2 MED17 MEF2C MFSD8 MOCS1 MOCS2 MTHFR MTOR MYO5A
NDUFA1 NDUFA2 NDUFAF3 NDUFAF6 NDUFV1 NECAP1 NEDD4L NEU1, NGLY1 NHLRC1 NHS NLGN3 NPC1 NPRL3 NRXN1 OPHN1 PACS1 PCDH19 PDHA1 PGK1 PIGA PIGN PIGO PLCB1 PMM2
PNKD PNKP PNPO POLG PPT1 PRICKLE1 PRICKLE2 PRRT2 PSAT1 RAB27A RAB3GAP1 RANBP2
RBFOX1 RELN RFT1 RNASEH2A RNASEH2B RNASEH2C ROGDI RYR3 SAMHD1 SATB2 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN4A SCN5A SCN8A SCN8A SCN9A SERPINI1 SETD2 SGCE SLC12A1 SLC12A5
SLC19A3 SLC25A12 SLC25A22 SLC2A1 SLC35A2 SLC4A10 SLC6A1 SLC9A6 SNIP1 SNX27 SPATA5 SPTAN1 SRGAP2 SRPX2 ST3GAL3 ST3GAL5 STRADA STX1B STXBP1 SUOX, SYN1 SYNGAP1 SYNJ1 SZT2 TBC1D24 TBCE TBL1XR1 TCF4 TNK2 TPK1 TPP1 TREX1 TSC1 TSC2 TUBB TUBB2A TUBB3 TUBG1 UBA5 UBE3A VDAC1 WDR45 WWOX ZDHHC9 ZEB2

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