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An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, Antzelevitch C, Salisbury BA, Guicheney P, Wilde AA, Brugada R, Schott JJ, Ackerman MJ. Kapplinger JD, et al. Among authors: vatta m. Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8. Heart Rhythm. 2010. PMID: 20129283 Free PMC article.
Novel mutations in domain I of SCN5A cause Brugada syndrome.
Vatta M, Dumaine R, Antzelevitch C, Brugada R, Li H, Bowles NE, Nademanee K, Brugada J, Brugada P, Towbin JA. Vatta M, et al. Mol Genet Metab. 2002 Apr;75(4):317-24. doi: 10.1016/S1096-7192(02)00006-9. Mol Genet Metab. 2002. PMID: 12051963
Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A:
Hong K, Berruezo-Sanchez A, Poungvarin N, Oliva A, Vatta M, Brugada J, Brugada P, Towbin JA, Dumaine R, Piñero-Galvez C, Antzelevitch C, Brugada R. Hong K, et al. Among authors: vatta m. J Cardiovasc Electrophysiol. 2004 Jan;15(1):64-9. doi: 10.1046/j.1540-8167.2004.03341.x. J Cardiovasc Electrophysiol. 2004. PMID: 15028074
Genetic modulation of brugada syndrome by a common polymorphism.
Lizotte E, Junttila MJ, Dube MP, Hong K, Benito B, DE Zutter M, Henkens S, Sarkozy A, Huikuri HV, Towbin J, Vatta M, Brugada P, Brugada J, Brugada R. Lizotte E, et al. Among authors: vatta m. J Cardiovasc Electrophysiol. 2009 Oct;20(10):1137-41. doi: 10.1111/j.1540-8167.2009.01508.x. Epub 2009 Jun 22. J Cardiovasc Electrophysiol. 2009. PMID: 19549036
KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders.
Wu J, Shimizu W, Ding WG, Ohno S, Toyoda F, Itoh H, Zang WJ, Miyamoto Y, Kamakura S, Matsuura H, Nademanee K, Brugada J, Brugada P, Brugada R, Vatta M, Towbin JA, Antzelevitch C, Horie M. Wu J, et al. Among authors: vatta m. Heart Rhythm. 2010;7(2):199-205. doi: 10.1016/j.hrthm.2009.10.012. Epub 2009 Oct 12. Heart Rhythm. 2010. PMID: 20042375 Free PMC article.
222 results