Article
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.
Circulation - 1 Aug 2006
Poelzing Steven, Forleo Cinzia, Samodell Melissa, Dudash Lynn, Sorrentino Sandro, Anaclerio Matteo, Troccoli Rossella, Iacoviello Massimo, Romito Roberta, Guida Pietro, Chahine Mohamed, Pitzalis Mariavittoria, Deschênes Isabelle
Abstract excerpt
BACKGROUND: Brugada syndrome is associated with a high risk of sudden cardiac death and is caused by mutations in the cardiac voltage-gated sodium channel gene. Previously, the R282H-SCN5A mutation in the sodium channel gene was identified in patients with Brugada syndrome. In a family carrying t...
Topics
- Arrhythmias, Cardiac
- Cell Line
- Cell Membrane
- DNA
- Death, Sudden, Cardiac
- Electrophysiology
- Female
- Gene Expression Regulation
- Humans
- Immunohistochemistry
- Male
- Muscle Proteins
- Mutation, Missense
- NAV1.5 Voltage-Gated Sodium Channel