Article
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Heart rhythm - 1 Jan 2010
Kapplinger Jamie D, Tester David J, Alders Marielle, Benito Begoña, Berthet Myriam, Brugada Josep, Brugada Pedro, Fressart Véronique, Guerchicoff Alejandra, Harris-Kerr Carole, Kamakura Shiro, Kyndt Florence, Koopmann Tamara T, Miyamoto Yoshihiro, Pfeiffer Ryan, Pollevick Guido D, Probst Vincent, Zumhagen Sven, Vatta Matteo, Towbin Jeffrey A, Shimizu Wataru, Schulze-Bahr Eric, Antzelevitch Charles, Salisbury Benjamin A, Guicheney Pascale, Wilde Arthur A M, Brugada Ramon, Schott Jean-Jacques, Ackerman Michael J
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is a common heritable channelopathy. Mutations in the SCN5A-encoded sodium channel (BrS1) culminate in the most common genotype. OBJECTIVE: This study sought to perform a retrospective analysis of BrS databases from 9 centers that have each genotyped >100 unrelated cases of suspected BrS. METHODS: Mutational analysis of all 27 translated exons in SCN5A was performed. Mutation...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Brugada Syndrome
- Case-Control Studies
- Child
- Child, Preschool