Open AccessNovel SCN5A Mutation Leading Either to Isolated Cardiac Conduction Defect or Brugada Syndrome in a Large French Family
Author(s) -
Florence Kyndt,
Vincent Probst,
F Potet,
Sophie Demolombe,
Jean-Christophe Chevallier,
Isabelle Baró,
Jean-Paul Moisan,
Pierre Boisseau,
JeanJacques Schott,
Denis Escande,
Hervé Le Marec
Publication year - 2001
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/hc5001.100834
Subject(s) - brugada syndrome , medicine , missense mutation , cardiology , right bundle branch block , ajmaline , sodium channel , long qt syndrome , flecainide , mutation , bundle branch block , phenotype , electrocardiography , genetics , atrial fibrillation , qt interval , gene , biology , chemistry , organic chemistry , sodium
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).
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