A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome
(2013)
Journal Article
Tarradas, A., Selga, E., Beltran-Alvarez, P., Pérez-Serra, A., Riuró, H., Picó, F., Iglesias, A., Campuzano, O., Castro-Urda, V., Fernández-Lozano, I., Pérez, G. J., Scornik, F. S., & Brugada, R. (2013). A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome. PLoS ONE, 8(1), Article e53220. https://doi.org/10.1371/journal.pone.0053220
Brugada syndrome (BrS) is a life-threatening, inherited arrhythmogenic syndrome associated with autosomal dominant mutations in SCN5A, the gene encoding the cardiac Na+ channel alpha subunit (Nav1.5). The aim of this work was to characterize the func... Read More about A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome.