Article
Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.
Basic research in cardiology - 1 Jan 2014
Béziau Delphine M, Barc Julien, O'Hara Thomas, Le Gloan Laurianne, Amarouch Mohamed Yassine, Solnon Aude, Pavin Dominique, Lecointe Simon, Bouillet Patricia, Gourraud Jean-Baptiste, Guicheney Pascale, Denjoy Isabelle, Redon Richard, Mabo Philippe, le Marec Hervé, Loussouarn Gildas, Kyndt Florence, Schott Jean-Jacques, Probst Vincent, Baró Isabelle
Abstract excerpt
Brugada syndrome (BrS) is characterized by ST-segment elevation in the right precordial leads and is associated with increased risk of sudden cardiac death. We have recently reported families with BrS and SCN5A mutations where some affected members do not carry the familial mutation. We evaluated the involvement of additional genetic determinants for BrS in an affected family. We identified three distinct gene...
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