Article
A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.
Human mutation - 1 Jul 2013
Riuró Helena, Beltran-Alvarez Pedro, Tarradas Anna, Selga Elisabet, Campuzano Oscar, Vergés Marcel, Pagans Sara, Iglesias Anna, Brugada Josep, Brugada Pedro, Vázquez Francisco M, Pérez Guillermo J, Scornik Fabiana S, Brugada Ramon
Abstract excerpt
Brugada Syndrome (BrS) is a familial disease associated with sudden cardiac death. A 20%-25% of BrS patients carry genetic defects that cause loss-of-function of the voltage-gated cardiac sodium channel. Thus, 70%-75% of patients remain without a genetic diagnosis. In this work, we identified a n...
Topics
- Brugada Syndrome
- Death, Sudden, Cardiac
- Female
- Genetic Predisposition to Disease
- Humans
- Middle Aged
- Mutation, Missense
- Sodium Channels
- Voltage-Gated Sodium Channel beta-2 Subunit