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 a mouse model with heterozygous targeted disruption of Scn5a (Scn5a(+/-) mice) and compared our results to those...
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