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Article

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Scientific reports - 10 Jul 2014

Tan Zhi-Ping, Xie Li, Deng Yao, Chen Jin-Lan, Zhang Wei-Zhi, Wang Jian, Yang Jin-Fu, Yang Yi-Feng

Abstract excerpt

SCN5A mutations have been reported to underlie a variety of inherited arrhythmias, while the complex overlapping phenotype, especially with congenital heart disease (CHD), is rarely reported. The 48-year-old proband underwent a recent syncope during rest. A CHD (tetralogy of Fallot) and conduction disease was revealed by echocardiogram and ultrasonic cardiogram examination. We combined whole-exome sequencing...

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Identifiers

PMID: 25010007
DOI: 10.1038/srep05616
PMCID: PMC5375973

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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