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Article

Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.

PloS one - 1 Jan 2015

Hu Rou-Mu, Tan Bi-Hua, Tester David J, Song Chunhua, He Yang, Dovat Sinisa, Peterson Blaise Z, Ackerman Michael J, Makielski Jonathan C

Abstract excerpt

BACKGROUND: SCN5A is a susceptibility gene for type 3 long QT syndrome, Brugada syndrome, and sudden infant death syndrome. INa dysfunction from mutated SCN5A can depend upon the splice variant background in which it is expressed and also upon environmental factors such as acidosis. S1787N was reported previously as a LQT3-associated mutation and has also been observed in 1 of 295 healthy white controls. Here, we...

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Identifiers

PMID: 25923670
DOI: 10.1371/journal.pone.0124921
PMCID: PMC4414567

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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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