Article
Modeling incomplete penetrance in long QT syndrome type 3 through ion channel heterogeneity: an in silico population study.
American journal of physiology. Heart and circulatory physiology - 1 Feb 2023
Miller Jacob A, Moise Nicolae, Weinberg Seth H
Abstract excerpt
Many cardiac diseases are characterized by an increased late sodium current, including heart failure, hypertrophic cardiomyopathy, and inherited long QT syndrome type 3 (LQT3). The late sodium current in LQT3 is caused by a gain-of-function mutation in the voltage-gated sodium channel Nav1.5. Despite a well-defined genetic cause of LQT3, treatment remains inconsistent because of incomplete penetrance of the...
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