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Article

Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome.

The Canadian journal of cardiology - 15 Mar 2004

Baroudi Ghayath, Napolitano Carlo, Priori Silvia G, Del Bufalo Alessandro, Chahine Mohamed

Abstract excerpt

BACKGROUND: Ventricular fibrillation is one of the leading causes of death in North America. Brugada syndrome is characterized by ST segment elevation on the right precordial leads V1 through V3 and right bundle branch block, and may cause sudden death. Mutations in the SCN5A gene encoding the cardiac voltage-gated Na+ channel (hNav1.5) are associated with Brugada syndrome. OBJECTIVES: In this study, three novel...

Topics

Adult
Bundle-Branch Block
Codon, Nonsense
Defibrillators, Implantable
Echocardiography
Electric Countershock
Electrocardiography
Female
Genetic Markers
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heart Conduction System

Humans

Male

Microscopy, Confocal

Middle Aged

Mutation, Missense

NAV1.5 Voltage-Gated Sodium Channel

Patch-Clamp Techniques

Source

Identifiers

PMID: 15057319

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-15057319-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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