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

Abstract

Although D1275N produces near-normal currents in multiple heterologous expression experiments, our data establish this variant as a pathological mutation that generates conduction slowing, arrhythmias, and a dilated cardiomyopathy phenotype by reducing cardiac sodium current.