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Article

Embryonic type Na+ channel β-subunit, SCN3B masks the disease phenotype of Brugada syndrome

28 Sept 2016

Abstract excerpt

Abstract SCN5Ais abundant in heart and has a major role inINa. Loss-of-function mutation inSCN5Aresults in Brugada syndrome (BrS), which causes sudden death in adults. It remains unclear why disease phenotype does not manifest in the young even though mutated SCN5A is expressed in the young. The aim of the present study is to elucidate the timing of the disease manifestation in BrS. A gain-of-function mutation...

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PMID: 27677334
DOI: 10.1038/srep34198

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