A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

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 (Na(v)1.5). The aim of this work was to characterize the functional alterations caused by a novel SCN5A mut...

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Main Authors: Anna Tarradas, Elisabet Selga, Pedro Beltran-Alvarez, Alexandra Pérez-Serra, Helena Riuró, Ferran Picó, Anna Iglesias, Oscar Campuzano, Víctor Castro-Urda, Ignacio Fernández-Lozano, Guillermo J Pérez, Fabiana S Scornik, Ramon Brugada
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Acceso en liña:http://europepmc.org/articles/PMC3538753?pdf=render
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