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Article

Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.

Circulation. Cardiovascular genetics - 1 Apr 2014

Hoshi Malcolm, Du Xi X, Shinlapawittayatorn Krekwit, Liu Haiyan, Chai Sam, Wan Xiaoping, Ficker Eckhard, Deschênes Isabelle

Abstract excerpt

BACKGROUND: Brugada syndrome (BrS) is an arrhythmogenic disorder that has been linked to mutations in SCN5A, the gene encoding for the pore-forming α-subunit of the cardiac sodium channel. Typically, BrS mutations in SCN5A result in a reduction of sodium current with some mutations even exhibiting a dominant-negative effect on wild-type (WT) channels, thus leading to an even more prominent decrease in current...

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Identifiers

PMID: 24573164
DOI: 10.1161/CIRCGENETICS.113.000292
PMCID: PMC3989843

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Source receipt: pubmed, retrieved 7 Sept 2026.

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