A novel three base-pair deletion in domain two of the cardiac sodium channel causes Brugada syndrome.

doi:10.1016/j.jelectrocard.2018.03.009

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Article

A novel three base-pair deletion in domain two of the cardiac sodium channel causes Brugada syndrome.

Journal of electrocardiology - 1 Jan 2000

Tan Boon Yew, Wang Luokai, Uttamchandani Mahesh, Barajas-Martinez Hector, Dumaine Robert, Morin Nathalie, Ching Chi Keong, Ho Kah Leng, Chong Daniel Thuan Tee, Chow Weien, Yap Eric Peng Huat, Moochhala Shabbir, Hu Dan, Yong Rita Yu Yin, Teo Wee Siong

Abstract excerpt

INTRODUCTION: Mutations within SCN5A are found in a significant proportion (15-30%) of Brugada syndrome (BrS) cases and impair sodium transport across excitable cardiac cells that mediate ventricular contractions. Genetic testing offers a means to clinically assess and manage affected individuals...

Topics

Adult
Brugada Syndrome
Female
Humans
Male
NAV1.5 Voltage-Gated Sodium Channel
Pedigree
Phenotype
Sequence Deletion
Syncope

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Identifiers

PMID: 29997009
DOI: 10.1016/j.jelectrocard.2018.03.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-29997009-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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