Associated Papers
Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation.
Chang-Gonzalez AC et al.
Biorxiv : the Preprint Server for Biology, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Novel KCNQ1 Q234K variant, identified in patients with long QT syndrome and epileptiform activity, induces both gain- and loss-of-function of slowly activating delayed rectifier potassium currents.
Nakajima T et al.
Frontiers in Physiology, 2024
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
35932045 (PubMed )
Supplement: 40246_2022_402_MOESM5_ESM.xlsx › Additional_File_5
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.
Tomar S et al.
Circulation. Genomic and Precision Medicine, 2022
Structural basis for KCNE3 modulation of potassium recycling in epithelia.
Kroncke BM et al.
Science Advances, 2016
Genetic screening in sudden cardiac death in the young can save future lives.
Stattin EL et al.
International Journal of Legal Medicine, 2016
A shared mechanism for lipid- and beta-subunit-coordinated stabilization of the activated K+ channel voltage sensor.
Choi E et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2010
The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes.
Panaghie G et al.
The Journal of General Physiology, 2007
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