Associated Papers
Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.
Harvey ML et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41445606 (PubMed )
Supplement: media-2.xlsx › File_S2
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable2.xls › SupplementaryTable2
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization.
Ye D et al.
Circulation. Genomic and Precision Medicine, 2024
39119706 (PubMed )
Supplement: circgenetics_circcvg-2024-004584_supp1.pdf
Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.
Clemens DJ et al.
Heart Rhythm, 2018
Molecular pathogenesis of long QT syndrome type 1.
Wu J et al.
Journal of Arrhythmia, 2016
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
Mousavi Nik A et al.
Frontiers in Cellular Neuroscience, 2015
LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms.
Aromolaran AS et al.
Cardiovascular Research, 2014
Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.
Sato A et al.
The Journal of Biological Chemistry, 2009
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
Select a paper to view details