Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.

doi:10.1161/JAHA.115.003122

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Article

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.

Journal of the American Heart Association - 10 Jun 2016

Portero Vincent, Le Scouarnec Solena, Es-Salah-Lamoureux Zeineb, Burel Sophie, Gourraud Jean-Baptiste, Bonnaud Stéphanie, Lindenbaum Pierre, Simonet Floriane, Violleau Jade, Baron Estelle, Moreau Eléonore, Scott Carol, Chatel Stéphanie, Loussouarn Gildas, O'Hara Thomas, Mabo Philippe, Dina Christian, Le Marec Hervé, Schott Jean-Jacques, Probst Vincent, Baró Isabelle, Marionneau Céline, Charpentier Flavien, Redon Richard

Abstract excerpt

BACKGROUND: The Brugada syndrome is an inherited cardiac arrhythmia associated with high risk of sudden death. Although 20% of patients with Brugada syndrome carry mutations in SCN5A, the molecular mechanisms underlying this condition are still largely unknown. METHODS AND RESULTS: We combined wh...

Topics

Brugada Syndrome
Electrocardiography
Female
Gain of Function Mutation
Genetic Predisposition to Disease
Genotype
Humans
Male
NAV1.5 Voltage-Gated Sodium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymorphism, Single Nucleotide

Potassium Channels, Voltage-Gated

Shaker Superfamily of Potassium Channels

Shal Potassium Channels

Exome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 27287695
DOI: 10.1161/JAHA.115.003122
PMCID: PMC4937261

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-27287695-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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