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

Hum Mol Genet. 1995 Sep;4(9):1603-7. doi: 10.1093/hmg/4.9.1603.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Female
  • Gene Deletion
  • Humans
  • Long QT Syndrome / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Myocardium / metabolism*
  • Pedigree
  • Sequence Homology, Amino Acid
  • Sodium Channels / genetics*


  • Sodium Channels

Associated data