A Brugada syndrome proband with compound heterozygote SCN5A mutations identified from a Chinese family in Singapore.

doi:10.1093/europace/euv058

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Article

A Brugada syndrome proband with compound heterozygote SCN5A mutations identified from a Chinese family in Singapore.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 1 Jun 2016

Tan Boon Yew, Yong Rita Yu Yin, Barajas-Martinez Hector, Dumaine Robert, Chew Ying Xia, Wasan Pavandip Singh, Ching Chi Keong, Ho Kah Leng, Gan Linda Seo Hwee, Morin Nathalie, Chong Alicia Poh Leng, Yap Shiao Hui, Neo Jia Ling, Yap Eric Peng Huat, Moochhala Shabbir, Chong Daniel Thuan Tee, Chow Weien, Seow Swee Chong, Hu Dan, Uttamchandani Mahesh, Teo Wee Siong

Abstract excerpt

AIMS: Brugada syndrome (BrS) is a rare heritable ventricular arrhythmia. Genetic defects in SCN5A, a gene that encodes the α-subunit of the sodium ion channel Nav1.5, are present in 15-30% of BrS cases. SCN5A remains by far, the highest yielding gene for BrS. We studied a young male who presented with syncope at age 11. This proband was screened for possible disease causing SCN5A mutations. The inheritance...

Topics

Adolescent
Adult
Asian People
Brugada Syndrome
Cell Line
DNA Mutational Analysis
Electrocardiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Exons

Female

Heterozygote

Humans

Male

Middle Aged

Mutation, Missense

NAV1.5 Voltage-Gated Sodium Channel

Pedigree

Phenotype

Singapore

Source

Open in PubMed

Identifiers

PMID: 25829473
DOI: 10.1093/europace/euv058

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-25829473-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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