Article
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family.
Circulation - 18 Dec 2001
Kyndt F, Probst V, Potet F, Demolombe S, Chevallier J C, Baro I, Moisan J P, Boisseau P, Schott J J, Escande D, Le Marec H
Abstract excerpt
BACKGROUND: The SCN5A gene encoding the human cardiac sodium channel alpha subunit plays a key role in cardiac electrophysiology. Mutations in SCN5A lead to a large spectrum of phenotypes, including long-QT syndrome, Brugada syndrome, and isolated progressive cardiac conduction defect (Lenègre disease). METHODS AND RESULTS: In the present study, we report the identification of a novel single SCN5A missense...
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