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Article

Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation.

Cardiovascular research - 1 Jun 2010

Valdivia Carmen R, Medeiros-Domingo Argelia, Ye Bin, Shen Win-Kuang, Algiers Timothy J, Ackerman Michael J, Makielski Jonathan C

Abstract excerpt

AIMS: Loss-of-function mutations in the SCN5A-encoded sodium channel SCN5A or Nav1.5 have been identified in idiopathic ventricular fibrillation (IVF) in the absence of Brugada syndrome phenotype. Nav1.5 is regulated by four sodium channel auxiliary beta subunits. Here, we report a case with IVF and a novel mutation in the SCN3B-encoded sodium channel beta subunit Navbeta3 that causes a loss of function of Nav1.5...

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Source

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Identifiers

PMID: 20042427
DOI: 10.1093/cvr/cvp417
PMCID: PMC2868175

Genes

SCN5A
SCN3B
GPD1L
KCNH2
KCNQ1
RYR2

Variants

Provenance

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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