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Article

A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.

Heart rhythm - 1 Mar 2011

Shinlapawittayatorn Krekwit, Du Xi X, Liu Haiyan, Ficker Eckhard, Kaufman Elizabeth S, Deschênes Isabelle

Abstract excerpt

BACKGROUND: Defects in the cardiac sodium channel gene, SCN5A, can cause a broad spectrum of inherited arrhythmia syndromes. After genotyping of a proband who presented with syncope, the SCN5A mutant P2006A and the common polymorphism H558R were identified. OBJECTIVE: The main objective of this study was to determine whether the SCN5A-H558R polymorphism could modify the defective gating kinetics observed in the...

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Identifiers

PMID: 21109022
DOI: 10.1016/j.hrthm.2010.11.034
PMCID: PMC3050092

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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