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Article

Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation

28 Jan 2017

Abstract excerpt

BACKGROUND: Mutations in SCN5A, the gene encoding the α-subunit of the cardiac sodium channel (NaV1.5), are associated with a broad spectrum of inherited cardiac arrhythmia disorders. The purpose of this study was to identify the genetic and functional determinants underlying a Dutch family that presented with a combined phenotype of ventricular arrhythmias with a likely adrenergic component, either in isolation...

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PMID: 28262340
DOI: 10.1016/j.ijcard.2017.01.113

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