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Article

Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.

Scientific reports - 23 Oct 2014

Juang Jyh-Ming Jimmy, Lu Tzu-Pin, Lai Liang-Chuan, Ho Chia-Chuan, Liu Yen-Bin, Tsai Chia-Ti, Lin Lian-Yu, Yu Chih-Chieh, Chen Wen-Jone, Chiang Fu-Tien, Yeh Shih-Fan Sherri, Lai Ling-Ping, Chuang Eric Y, Lin Jiunn-Lee

Abstract excerpt

Brugada syndrome (BrS) is one of the ion channelopathies associated with sudden cardiac death (SCD). The most common BrS-associated gene (SCN5A) only accounts for approximately 20-25% of BrS patients. This study aims to identify novel mutations across human ion channels in non-familial BrS patients without SCN5A variants through disease-targeted sequencing. We performed disease-targeted multi-gene sequencing...

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Share to Brugada Syndrome
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Epithelial Sodium Channels

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Nerve Tissue Proteins

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Share to Potassium Channels, Inwardly Rectifying

Share to Potassium Channels, Sodium-Activated

Source

Open in PubMed Open full text

Identifiers

PMID: 25339316
DOI: 10.1038/srep06733
PMCID: PMC4206841

Genes

SCD
KCNB2
KCNJ16
KCNT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.PMID 25339316Read ↗

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