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Article

A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation.

Heart rhythm - 1 Jun 2014

Ziyadeh-Isleem Azza, Clatot Jérôme, Duchatelet Sabine, Gandjbakhch Estelle, Denjoy Isabelle, Hidden-Lucet Françoise, Hatem Stéphane, Deschênes Isabelle, Coulombe Alain, Neyroud Nathalie, Guicheney Pascale

Abstract excerpt

BACKGROUND: Mutations in the SCN5A gene, encoding the α subunit of the cardiac Na(+) channel, Nav1.5, can result in several life-threatening arrhythmias. OBJECTIVE: To characterize a distal truncating SCN5A mutation, R1860Gfs*12, identified in a family with different phenotypes including sick sinus syndrome, atrial fibrillation (AF), atrial flutter, and atrioventricular block. METHODS: Patch-clamp and biochemical...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Heart Conduction System

Share to Homeobox Protein PITX2

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Source

Open in PubMed Open full text

Identifiers

PMID: 24582607
DOI: 10.1016/j.hrthm.2014.02.021
PMCID: PMC4056672

Genes

PITX2

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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