Article
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.
Circulation. Genomic and precision medicine - 1 Dec 2020
Wijeyeratne Yanushi D, Tanck Michael W, Mizusawa Yuka, Batchvarov Velislav, Barc Julien, Crotti Lia, Bos J Martijn, Tester David J, Muir Alison, Veltmann Christian, Ohno Seiko, Page Stephen P, Galvin Joseph, Tadros Rafik, Muggenthaler Martina, Raju Hariharan, Denjoy Isabelle, Schott Jean-Jacques, Gourraud Jean-Baptiste, Skoric-Milosavljevic Doris, Nannenberg Eline A, Redon Richard, Papadakis Michael, Kyndt Florence, Dagradi Federica, Castelletti Silvia, Torchio Margherita, Meitinger Thomas, Lichtner Peter, Ishikawa Taisuke, Wilde Arthur A M, Takahashi Kazuhiro, Sharma Sanjay, Roden Dan M, Borggrefe Martin M, McKeown Pascal P, Shimizu Wataru, Horie Minoru, Makita Naomasa, Aiba Takeshi, Ackerman Michael J, Schwartz Peter J, Probst Vincent, Bezzina Connie R, Behr Elijah R
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is characterized by the type 1 Brugada ECG pattern. Pathogenic rare variants in SCN5A (mutations) are identified in 20% of BrS families in whom incomplete penetrance and genotype-negative phenotype-positive individuals are observed. E1784K-SCN5A is the most common SCN5A mutation identified. We determined the association of a BrS genetic risk score (BrS-GRS) and SCN5A mutation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.