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Article

Striking In Vivo Phenotype of a Disease-Associated Human <i>SCN5A</i> Mutation Producing Minimal Changes in Vitro

9 Aug 2011

Abstract excerpt

BACKGROUND: The D1275N SCN5A mutation has been associated with a range of unusual phenotypes, including conduction disease and dilated cardiomyopathy, as well as atrial and ventricular tachyarrhythmias. However, when D1275N is studied in heterologous expression systems, most studies show near-normal sodium channel function. Thus, the relationship of the variant to the clinical phenotypes remains uncertain....

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PMID: 21824921
DOI: 10.1161/circulationaha.110.987248

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