Epilepsia

Epilepsia mioclónica progressiva

Lista de Genes
ADGRV1, AFG3L2, ASAH1, ATP13A2
BRAT1
CERS1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF
DHDDS, DNAJC5
EPM2A
FARS2, FOLR1
GABRB2, GBA1, GOSR2, GRN
KCNC1, KCTD7
MFSD8
NEU1, NHLRC1, NUS1
POLG, PPT1, PRICKLE1
SCARB2, SCN1A, SEMA6B, SERPINI1
TBC1D24, TPP1
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido