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
KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.
Streeten EA et al.
Circulation. Genomic and Precision Medicine, 2020
33141630 (PubMed )
Supplement: hcg-13-e003133-s002.xls › Supplemental_Table_9.
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
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
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
25967940 (PubMed )
Supplement: 12881_2015_176_MOESM1_ESM.xlsx › EVERYTHING
Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1.
Eldstrom J et al.
Heart Rhythm, 2015
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.
Ruklisa D et al.
Genome Medicine, 2015
25649125 (PubMed )
Supplement: 13073_2014_120_MOESM1_ESM.pdf
Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.
Eldstrom J et al.
The Journal of General Physiology, 2010
A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.
Arbour L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2008
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
Napolitano C et al.
Jama, 2005
Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.
Fodstad H et al.
Annals of Medicine, 2004
A novel KCNQ1 variant (L203P) associated with torsades de pointes-related syncope in a Steinert syndrome patient.
Patoine D et al.
The Canadian Journal of Cardiology, 0
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