Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia

Qing Wang, Jiaxiang Shen, Zhizhong Li, Katherine Timothy, G. Michael Vincent, Silvia G. Priori, Peter J. Schwartz, Mark T. Keating

Research output: Contribution to journalArticlepeer-review

Abstract

Long QT syndrome (LQT) is an inherited cardiac disorder that causes syncope, seizures and sudden death from ventricular tachyarrhythmias. We used single-strand conformation polymorphism (SSCP) and DNA sequence analyses to identify mutations in the cardiac sodium channel gene, SCN5A, in affected members of four LQT families. These mutations include two identical intragenic deletions and two missense mutations. These data suggest that SCN5A mutations cause LQT. The location and character of these mutations suggest that this form of LQT results from a delay in cardiac sodium channel fast inactivation or altered voltage-dependence of inactivation.

Original languageEnglish
Pages (from-to)1603-1607
Number of pages5
JournalHuman Molecular Genetics
Volume4
Issue number9
Publication statusPublished - Sep 1995

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

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