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Article

Novel mutations in domain I of SCN5A cause Brugada syndrome.

Molecular genetics and metabolism - 1 Apr 2002

Vatta Matteo, Dumaine Robert, Antzelevitch Charles, Brugada Ramon, Li Hua, Bowles Neil E, Nademanee Koonlawee, Brugada Josep, Brugada Pedro, Towbin Jeffrey A

Abstract excerpt

Brugada syndrome, an autosomal dominantly inherited form of ventricular fibrillation characterized by ST-segment elevation in leads V1-V3 and right bundle-branch block on surface electrocardiogram, is caused by mutations in the cardiac sodium channel gene SCN5A. Patients with Brugada syndrome were studied using single-strand conformation polymorphism analysis, denaturing high-performance liquid chromatography,...

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

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Source

Identifiers

PMID: 12051963
DOI: 10.1016/S1096-7192(02)00006-9

Genes

DIS3

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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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