Article
A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome.
Journal of cardiovascular electrophysiology - 1 Sept 2007
Aizawa Yoshiyasu, Ueda Kazuo, Scornik Fabiana, Cordeiro Jonathan M, Wu Yuesheng, Desai Mayurika, Guerchicoff Alejandra, Nagata Yasutoshi, Iesaka Yoshito, Kimura Akinori, Hiraoka Masayasu, Antzelevitch Charles
Abstract excerpt
INTRODUCTION: Long QT Syndrome (LQTS) is an inherited disorder characterized by prolonged QT intervals and life-threatening polymorphic ventricular tachyarrhythmias. LQT1 caused by KCNQ1 mutations is the most common form of LQTS. METHODS AND RESULTS: Patients diagnosed with LQTS were screened for disease-associated mutations in KCNQ1, KCNH2, KCNE1, KCNE2, KCNJ2, and SCN5A. A novel mutation was identified in KCNQ1...
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