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Article

A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.

Circulation. Cardiovascular genetics - 1 Oct 2011

Shinlapawittayatorn Krekwit, Dudash Lynn A, Du Xi X, Heller Lisa, Poelzing Steven, Ficker Eckhard, Deschênes Isabelle

Abstract excerpt

BACKGROUND: Brugada syndrome (BrS) is associated with mutations in the cardiac sodium channel (Na(v)1.5). We previously reported that the function of a trafficking-deficient BrS Na(v)1.5 mutation, R282H, could be restored by coexpression with the sodium channel polymorphism H558R. Here, we tested the hypothesis that peptide fragments from Na(v)1.5, spanning the H558R polymorphism, can be used to restore...

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Identifiers

PMID: 21840964
DOI: 10.1161/CIRCGENETICS.111.960633
PMCID: PMC3197758

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Source receipt: pubmed, retrieved 7 Sept 2026.

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