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Article

A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine

1 Aug 2002

Abstract excerpt

OBJECTIVE: Mutations in the cardiac sodium channel gene, SCN5A, cause congenital long QT syndrome (LQT3), Brugada syndrome, idiopathic ventricular fibrillation, and conduction disease by distinct cellular and clinical electrophysiological phenotypes. METHODS: Postmortem molecular analysis of SCN5A was conducted on an infant who presented shortly after birth with self-terminating torsades de pointes. The infant...

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PMID: 12123767
DOI: 10.1016/s0008-6363(02)00445-5

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Source receipt: pubmed, retrieved 7 Sept 2026.

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