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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: antzelevitch c. 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 Timothy syndrome mutation leading to increase in CACNA1C window current.
Boczek NJ, Miller EM, Ye D, Nesterenko VV, Tester DJ, Antzelevitch C, Czosek RJ, Ackerman MJ, Ware SM. Boczek NJ, et al. Among authors: antzelevitch c. Heart Rhythm. 2015 Jan;12(1):211-9. doi: 10.1016/j.hrthm.2014.09.051. Epub 2014 Sep 28. Heart Rhythm. 2015. PMID: 25260352 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. Among authors: antzelevitch c. 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: antzelevitch c. J Cardiovasc Electrophysiol. 2004 Jan;15(1):64-9. doi: 10.1046/j.1540-8167.2004.03341.x. J Cardiovasc Electrophysiol. 2004. PMID: 15028074
Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations.
Hong K, Brugada J, Oliva A, Berruezo-Sanchez A, Potenza D, Pollevick GD, Guerchicoff A, Matsuo K, Burashnikov E, Dumaine R, Towbin JA, Nesterenko V, Brugada P, Antzelevitch C, Brugada R. Hong K, et al. Among authors: antzelevitch c. Circulation. 2004 Nov 9;110(19):3023-7. doi: 10.1161/01.CIR.0000144299.17008.07. Epub 2004 Nov 1. Circulation. 2004. PMID: 15520322 Free PMC article.
Brugada syndrome: report of the second consensus conference.
Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, LeMarec H, Nademanee K, Perez Riera AR, Shimizu W, Schulze-Bahr E, Tan H, Wilde A. Antzelevitch C, et al. Heart Rhythm. 2005 Apr;2(4):429-40. doi: 10.1016/j.hrthm.2005.01.005. Heart Rhythm. 2005. PMID: 15898165 Review.
Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome.
Cordeiro JM, Barajas-Martinez H, Hong K, Burashnikov E, Pfeiffer R, Orsino AM, Wu YS, Hu D, Brugada J, Brugada P, Antzelevitch C, Dumaine R, Brugada R. Cordeiro JM, et al. Among authors: antzelevitch c. Circulation. 2006 Nov 7;114(19):2026-33. doi: 10.1161/CIRCULATIONAHA.106.627489. Epub 2006 Oct 30. Circulation. 2006. PMID: 17075016 Free PMC article.
438 results