Article
Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model.
PloS one - 19 Feb 2010
Leoni Anne-Laure, Gavillet Bruno, Rougier Jean-Sébastien, Marionneau Céline, Probst Vincent, Le Scouarnec Solena, Schott Jean-Jacques, Demolombe Sophie, Bruneval Patrick, Huang Christopher L H, Colledge William H, Grace Andrew A, Le Marec Hervé, Wilde Arthur A, Mohler Peter J, Escande Denis, Abriel Hugues, Charpentier Flavien
Abstract excerpt
BACKGROUND: Loss-of-function mutations in SCN5A, the gene encoding Na(v)1.5 Na+ channel, are associated with inherited cardiac conduction defects and Brugada syndrome, which both exhibit variable phenotypic penetrance of conduction defects. We investigated the mechanisms of this heterogeneity in...
Topics
- Adolescent
- Adult
- Alleles
- Animals
- Arrhythmias, Cardiac
- Blotting, Western
- Brugada Syndrome
- Child
- Disease Models, Animal
- Electrocardiography