Novel mutations in domain I of SCN5A cause Brugada syndrome.

doi:10.1016/S1096-7192(02)00006-9

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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,...

Topics

Animals
Base Sequence
Chromatography, High Pressure Liquid
Gene Deletion
Humans
Membrane Potentials
Molecular Sequence Data
Mutation
Mutation, Missense
NAV1.5 Voltage-Gated Sodium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single-Stranded Conformational

Sequence Analysis, DNA

Sodium Channels

Syndrome

Ventricular Fibrillation

Xenopus

Source

Open in PubMed

Identifiers

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

Genes

DIS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-12051963-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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