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Article

Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.

American journal of physiology. Heart and circulatory physiology - 1 Apr 2013

Hu Rou-Mu, Tan Bi-Hua, Orland Kate M, Valdivia Carmen R, Peterson Amber, Pu Jielin, Makielski Jonathan C

Abstract excerpt

SCN5A and SNTA1 are reported susceptible genes for long QT syndrome (LQTS). This study was designed to elucidate a plausible pathogenic arrhythmia mechanism for the combined novel mutations R800L-SCN5A and A261V-SNTA1 on cardiac sodium channels. A Caucasian family with syncope and marginally prolonged QT interval was screened for LQTS-susceptibility genes and found to harbor the R800L mutation in SCN5A and A261V...

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Source

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Identifiers

PMID: 23376825
DOI: 10.1152/ajpheart.00705.2012
PMCID: PMC3625899

Genes

SNTA1

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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