Functional phenotype variations of two novel K(V)7.1 mutations identified in patients with Long QT syndrome

Background The slow delayed rectifier potassium current I-Ks is crucial for the repolarization of the cardiac action potential. It is conducted by the voltage-gated channel K(V)7.1 encoded by KCNQ1, together with its beta-subunit KCNE1. Loss-of-function (LOF) mutations in KCNQ1 have been associated...

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Veröffentlicht in:Pacing and clinical electrophysiology 2020-02, Vol.43 (2), p.210-216
Hauptverfasser: Hammami Bomholtz, Sofia, Refaat, Marwan, Buur Steffensen, Annette, David, Jens-Peter, Espinosa, Karin, Nussbaum, Robert, Wojciak, Julianne, Hjorth Bentzen, Bo, Scheinman, Melvin, Schmitt, Nicole
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