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
A physiologically-relevant intermediate state structure of a voltage-gated potassium channel.
Kyriakis E et al.
Nature Communications, 2025
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Phul S et al.
Plos Computational Biology, 2022
35442947 (PubMed )
Supplement: pcbi.1010038.s010.xlsx › Missense_Mutations
A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.
Kernik DC et al.
Plos Computational Biology, 2020
Functional phenotype variations of two novel KV 7.1 mutations identified in patients with Long QT syndrome.
Hammami Bomholtz S et al.
Pacing and Clinical Electrophysiology : Pace, 2020
High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.
Vanoye CG et al.
Circulation. Genomic and Precision Medicine, 2018
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
29444113 (PubMed )
Supplement: pone.0191905.s001.pdf
Syncope and cardiac arrest during strenuous exercise associated with a novel mutation in LQTS1.
Sandhu A et al.
Clinical Case Reports, 2015
Gating-related molecular motions in the extracellular domain of the IKs channel: implications for IKs channelopathy.
Wang YH et al.
The Journal of Membrane Biology, 2011
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
Moss AJ et al.
Circulation, 2007
Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.
Miller TE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
Zareba W et al.
Journal of Cardiovascular Electrophysiology, 2003
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