Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.

doi:10.1016/j.jacc.2014.04.032

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Article

Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.

Journal of the American College of Cardiology - 8 Jul 2014

Hu Dan, Barajas-Martínez Hector, Pfeiffer Ryan, Dezi Fabio, Pfeiffer Jenna, Buch Tapan, Betzenhauser Matthew J, Belardinelli Luiz, Kahlig Kristopher M, Rajamani Sridharan, DeAntonio Harry J, Myerburg Robert J, Ito Hiroyuki, Deshmukh Pramod, Marieb Mark, Nam Gi-Byoung, Bhatia Atul, Hasdemir Can, Haïssaguerre Michel, Veltmann Christian, Schimpf Rainer, Borggrefe Martin, Viskin Sami, Antzelevitch Charles

Abstract excerpt

BACKGROUND: BrS is an inherited sudden cardiac death syndrome. Less than 35% of BrS probands have genetically identified pathogenic variants. Recent evidence has implicated SCN10A, a neuronal sodium channel gene encoding Nav1.8, in the electrical function of the heart. OBJECTIVES: The purpose of...

Topics

Adult
Aged
Brugada Syndrome
Female
Genetic Variation
Humans
Male
Middle Aged
Mutation, Missense
NAV1.8 Voltage-Gated Sodium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Young Adult

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Identifiers

PMID: 24998131
DOI: 10.1016/j.jacc.2014.04.032
PMCID: PMC4116276

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-24998131-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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