An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

• Published in: Heart rhythm Vol. 7; no. 1; p. 33
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States 01.01.2010
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Brugada Syndrome - epidemiology; Brugada Syndrome - genetics; Case-Control Studies; Child; Child, Preschool; Databases, Genetic; Death, Sudden, Cardiac - epidemiology; Exons - genetics; Female; Genetic Testing; Genotype; Global Health; Humans; Infant; Internationality; Male; Middle Aged; Multivariate Analysis; Muscle Proteins - genetics; Mutation, Missense; NAV1.5 Voltage-Gated Sodium Channel; Retrospective Studies; Risk Factors; Sodium Channels - genetics; Young Adult

Brugada syndrome (BrS) is a common heritable channelopathy. Mutations in the SCN5A-encoded sodium channel (BrS1) culminate in the most common genotype. This study sought to perform a retrospective analysis of BrS databases from 9 centers that have each genotyped >100 unrelated cases of suspected...