Article
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.
Science (New York, N.Y.) - 23 Aug 2002
Splawski Igor, Timothy Katherine W, Tateyama Michihiro, Clancy Colleen E, Malhotra Alka, Beggs Alan H, Cappuccio Francesco P, Sagnella Giuseppe A, Kass Robert S, Keating Mark T
Abstract excerpt
Every year, approximately 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 arrhythmia in African Americans (P = 0.000028) and linked with arrhythmia risk in an African-American family (P = 0.005). In transfected cells, the variant allele (Y1102) accelerated channel activation, increasing the...
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