Article
High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1.
Heart rhythm - 1 Dec 2020
Kozek Krystian A, Glazer Andrew M, Ng Chai-Ann, Blackwell Daniel, Egly Christian L, Vanags Loren R, Blair Marcia, Mitchell Devyn, Matreyek Kenneth A, Fowler Douglas M, Knollmann Bjorn C, Vandenberg Jamie I, Roden Dan M, Kroncke Brett M
Abstract excerpt
BACKGROUND: KCHN2 encodes the KV11.1 potassium channel responsible for IKr, a major repolarization current during the cardiomyocyte action potential. Variants in KCNH2 that lead to decreased IKr have been associated with long QT syndrome type 2 (LQT2). The mechanism of LQT2 is most often induced loss of KV11.1 trafficking to the cell surface. Accurately discriminating between variants with normal and abnormal...
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