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Article

Trafficking defects and gating abnormalities of a novel SCN5A mutation question gene-specific therapy in long QT syndrome type 3.

Circulation research - 30 Apr 2010

Ruan Yanfei, Denegri Marco, Liu Nian, Bachetti Tiziana, Seregni Morena, Morotti Stefano, Severi Stefano, Napolitano Carlo, Priori Silvia G

Abstract excerpt

RATIONALE: Sodium channel blockers are used as gene-specific treatments in long-QT syndrome type 3, which is caused by mutations in the sodium channel gene (SCN5A). Response to treatment is influenced by biophysical properties of mutations. OBJECTIVE: We sought to investigate the unexpected deleterious effect of mexiletine in a mutation combining gain-of- function and trafficking abnormalities. METHODS AND...

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Identifiers

PMID: 20339117
DOI: 10.1161/CIRCRESAHA.110.218891

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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