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Article

A novel mutation in the SCN5A gene contributes to arrhythmogenic characteristics of early repolarization syndrome.

International journal of molecular medicine - 1 Mar 2016

Guo Qi, Ren Lan, Chen Xuhua, Hou Cuihong, Chu Jianmin, Pu Jielin, Zhang Shu

Abstract excerpt

Several genetic variants have been associated with early repolarization syndrome (ERS). However, the lack of functional validations of the mutant effects has limited the interpretation of genetic tests. In the present study, we identified and characterized a novel sodium channel, voltage gated, type V alpha subunit (SCN5A) mutation that was associated with ERS. A 67-year-old male proband suffering from recurrent...

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Identifiers

PMID: 26820605
DOI: 10.3892/ijmm.2016.2468
PMCID: PMC4771109

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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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