SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families

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 mutati...

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Published in:Circ Genom Precis Med
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: Lippincott Williams & Wilkins 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7748043/
https://ncbi.nlm.nih.gov/pubmed/33164571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.120.002911
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