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Article

A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state.

The Canadian journal of cardiology - 1 Sept 2005

Keller Dagmar I, Barrane Fatima-Zahara, Gouas Laetitia, Martin Johannie, Pilote Sylvie, Suarez Vivian, Osswald Stefan, Brink Marijke, Guicheney Pascale, Schwick Nicola, Chahine Mohamed

Abstract excerpt

BACKGROUND: Brugada syndrome (BS) is an electrical cardiac disorder with a right bundle branch block and ST segment elevation in leads V1 to V3 on surface electrocardiograms (ECGs), and is a syndrome that may lead to sudden cardiac death. PURPOSE: The aim of the present study was to screen for mutations in the SCN5A gene in a family with BS, and to characterize the consequences of the mutation on channel...

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PMID: 16239976

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

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