致病基因
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此檢測包含目前已知會導致新生兒、嬰兒及幼兒時期好發的癲癇及類癲癇之動作障礙的重要致病基因,包括:Dravet syndrome病卓飛症候群、Ohtahara syndrome、early onset epileptic encephalopathy,pyridoxine-dependent epilepsy,epileptic encephalopathy、West syndrome、Epilepsy of infancy with migrating focal seizures等等本檢測共篩選47個基因:ALDH7A1, ALG13, ARX, ATP1A2, ATP1A3, CACNA1A, CACNB4, CASK, CDKL5, CHD2, CLN5, DEPDC5, DNM1, DNM1L, FOXG1, GABRA1, GABRB3, GABRG2, GNAO1, GRIN1, GRIN2A, IQSEC2, KCNA2, KCNMA1, KCNQ2, KCNT1, KCNQ3, MECP2, PCDH19, PIGA, PLPBP, PNKD, PNPO, POLG, PRRT2, SCN1A, SCN2A, SCN8A, SLC12A5, SLC2A1, SLC9A6, SMC1A, SPTAN1, STXBP, SYNGAP1, TBC1D2, UBE3A
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