Population
In vitro model studying the cardiac K+ channel KCNQ1 (mutated in LQT1)
Comparison
Mutagenesis including serial C terminus… vs Wild-type KCNQ1 or other mutants
Design
Preclinical
Authors
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May inform LQT1 variant interpretation; leaves open therapeutic targeting of this domain pending human validation.
Identifies a specific coiled-coil domain in the KCNQ1 channel required for normal surface expression, providing a structural basis for how certain LQT1 mutations cause long QT syndrome.
Kanki et al. (2004) studied this question.
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