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Article

Gain-of-function mutation of Nav1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing.

Biochemical and biophysical research communications - 27 Feb 2009

Li Qiuju, Huang Hai, Liu Gele, Lam Khanh, Rutberg Julie, Green Martin S, Birnie David H, Lemery Robert, Chahine Mohamed, Gollob Michael H

Abstract excerpt

Genetic mutations of the cardiac sodium channel (SCN5A) specific only to the phenotype of atrial fibrillation have recently been described. However, data on the biophysical properties of SCN5A variants associated with atrial fibrillation are scarce. In a mother and son with lone atrial fibrillation, we identified a novel SCN5A coding variant, K1493R, which altered a highly conserved residue in the DIII-IV linker...

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Identifiers

PMID: 19167345
DOI: 10.1016/j.bbrc.2009.01.052

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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