De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.

doi:10.1159/000430189

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Article

De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2015

Wang Lumin, Meng Xiangyun, Yuchi Zhiguang, Zhao Zhenghang, Xu Dehui, Fedida David, Wang Zhuren, Huang Chen

Abstract excerpt

BACKGROUND: Brugada syndrome (BrS) is a genetically determined cardiac electrical disorder, characterized by typical electrocardiography (ECG) alterations, and it is an arrhythmogenic syndrome that may lead to sudden cardiac death. The most common genotype found among BrS patients is caused by mutations in the SCN5A gene, which lead to a loss of function of the cardiac sodium (Na(+)) channel (Nav1.5) by different...

Topics

Base Sequence
Brugada Syndrome
DNA Mutational Analysis
Electrocardiography
Genes, Dominant
Genetic Predisposition to Disease
HEK293 Cells
Heterozygote
Humans
Ion Channel Gating

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kinetics

Male

Middle Aged

Molecular Sequence Data

Mutant Proteins

Mutation

NAV1.5 Voltage-Gated Sodium Channel

Ultrasonography

Source

Open in PubMed

Identifiers

PMID: 26279430
DOI: 10.1159/000430189

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-26279430-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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