© 1995 Oxford University Press
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Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia
1Howard Hughes Medical Institute 2Department of Human Genetics 3Eccles Program in Human Molecular Biology and Genetics 4Cardiology Division, University of Utah Health Sciences Center Salt Lake City, UT 84112 5Department of Medicine, LDS Hospital Salt Lake City, UT 84037, USA 6Department of Cardiology, University of Pavia 20122, Pavia, Italy
*To whom correspondence should be addressed
Received May 8, 1995; Accepted June 14, 1995
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.
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