Every year, ∼450,000 individuals in the United States die suddenly of cardiac arrhythmia.
We identified a variant of the cardiac sodium channel gene SCN5A that is associated with …

Advances in genetics and molecular biology have provided an extensive body of information
on the structure and function of the elementary building blocks of living systems. Genetic …

Background— Complex physiological interactions determine the functional consequences
of gene abnormalities and make mechanistic interpretation of phenotypes extremely difficult. …

This paper is the third in a series of reviews published in this issue resulting from the
University of California Davis Cardiovascular Symposium 2014: Systems approach to …

Deletion of amino-acid residues 1505–1507 (KPQ) in the cardiac SCN5A Na + channel
causes autosomal dominant prolongation of the electrocardiographic QT interval (long-QT …

The National Heart, Lung, and Blood Institute and Office of Rare Diseases at the National
Institutes of Health organized a workshop (September 14 to 15, 2006, in Bethesda, Md) to …

A long-sought, and thus far elusive, goal has been to develop drugs to manage diseases of
excitability. One such disease that affects millions each year is cardiac arrhythmia, which …

Background— Female sex is an independent risk factor for torsade de pointes in long-QT
syndrome. In women, QT interval and torsade de pointes risk fluctuate dynamically during the …

Background: A variety of mutations in HERG, the major subunit of the rapidly activating
component of the cardiac delayed rectifier I Kr , have been found to underlie the congenital Long-…

I Ks , the slowly activating component of the delayed rectifier current, plays a major role in
repolarization of the cardiac action potential (AP). Genetic mutations in the α- (KCNQ1) and β- (…