Article
A double-point mutation in the selectivity filter site of the KCNQ1 potassium channel results in a severe phenotype, LQT1, of long QT syndrome.
Journal of cardiovascular electrophysiology - 1 May 2008
Ikrar Taruna, Hanawa Haruo, Watanabe Hiroshi, Okada Shinsuke, Aizawa Yoshiyasu, Ramadan Mahmoud M, Komura Satoru, Yamashita Fumio, Chinushi Masaomi, Aizawa Yoshifusa
Abstract excerpt
INTRODUCTION: Slowly activating delayed-rectifier potassium currents in the heart are produced by a complex protein with alpha and beta subunits composed of the potassium voltage-gated channel KQT-like subfamily, member 1 (KCNQ1) and the potassium voltage-gated channel Isk-related family, member 1 (KCNE1), respectively. Mutations in KCNQ1 underlie the most common type of hereditary long QT syndrome (LQTS). Like...
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