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A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents.
Hu D, Barajas-Martínez H, Medeiros-Domingo A, Crotti L, Veltmann C, Schimpf R, Urrutia J, Alday A, Casis O, Pfeiffer R, Burashnikov E, Caceres G, Tester DJ, Wolpert C, Borggrefe M, Schwartz P, Ackerman MJ, Antzelevitch C. Hu D, et al. Heart Rhythm. 2012 May;9(5):760-9. doi: 10.1016/j.hrthm.2011.12.006. Epub 2011 Dec 7. Heart Rhythm. 2012. PMID: 22155597 Free PMC article.
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome.
Medeiros-Domingo A, Kaku T, Tester DJ, Iturralde-Torres P, Itty A, Ye B, Valdivia C, Ueda K, Canizales-Quinteros S, Tusié-Luna MT, Makielski JC, Ackerman MJ. Medeiros-Domingo A, et al. Circulation. 2007 Jul 10;116(2):134-42. doi: 10.1161/CIRCULATIONAHA.106.659086. Epub 2007 Jun 25. Circulation. 2007. PMID: 17592081 Free PMC article.
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.
Crotti L, Marcou CA, Tester DJ, Castelletti S, Giudicessi JR, Torchio M, Medeiros-Domingo A, Simone S, Will ML, Dagradi F, Schwartz PJ, Ackerman MJ. Crotti L, et al. J Am Coll Cardiol. 2012 Oct 9;60(15):1410-8. doi: 10.1016/j.jacc.2012.04.037. Epub 2012 Jul 25. J Am Coll Cardiol. 2012. PMID: 22840528 Free PMC article.
82 results