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Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haïssaguerre M, Schimpf R, Borggrefe M, Wolpert C. Antzelevitch C, et al. Among authors: sanguinetti mc. Circulation. 2007 Jan 30;115(4):442-9. doi: 10.1161/CIRCULATIONAHA.106.668392. Epub 2007 Jan 15. Circulation. 2007. PMID: 17224476 Free PMC article.
De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.
Hong K, Piper DR, Diaz-Valdecantos A, Brugada J, Oliva A, Burashnikov E, Santos-de-Soto J, Grueso-Montero J, Diaz-Enfante E, Brugada P, Sachse F, Sanguinetti MC, Brugada R. Hong K, et al. Among authors: sanguinetti mc. Cardiovasc Res. 2005 Dec 1;68(3):433-40. doi: 10.1016/j.cardiores.2005.06.023. Epub 2005 Aug 18. Cardiovasc Res. 2005. PMID: 16109388
Compound mutations: a common cause of severe long-QT syndrome.
Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC. Westenskow P, et al. Among authors: sanguinetti mc. Circulation. 2004 Apr 20;109(15):1834-41. doi: 10.1161/01.CIR.0000125524.34234.13. Epub 2004 Mar 29. Circulation. 2004. PMID: 15051636
170 results