Associated Papers
SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.
Chatelain FC et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2026
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
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1.
Akgun-Dogan O et al.
Journal of Cardiovascular Electrophysiology, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Utilization of the genome aggregation database, in silico tools, and heterologous expression patch-clamp studies to identify and demote previously published type 2 long QT syndrome: Causative variants from pathogenic to likely benign.
Mattivi CL et al.
Heart Rhythm, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
A novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1.
Chen XM et al.
Heart and Vessels, 2019
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.
Burns C et al.
Journal of Arrhythmia, 2016
Negative-dominance phenomenon with genetic variants of the cardiac sodium channel Nav1.5.
Sottas V et al.
Biochimica Et Biophysica Acta, 2016
Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?
Izumi G et al.
Pediatric Cardiology, 2016
QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.
Seethala S et al.
Journal of the American Heart Association, 2015
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Long QT syndrome. Electrical miscues of the heart.
Unknown Author
Mayo Clinic Health Letter (english Ed.), 2014
Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.
Amin AS et al.
European Heart Journal, 2012
Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients.
Jons C et al.
Science Translational Medicine, 2011
Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.
Hofman N et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2011
Phenotypic variability in Caucasian and Japanese patients with matched LQT1 mutations.
Liu JF et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2008
Dysfunction of delayed rectifier potassium channels in an inherited cardiac arrhythmia.
Sanguinetti MC
Annals of the New York Academy of Sciences, 1999
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Genotype and clinical characteristics of congenital long QT syndrome in Thailand.
Saprungruang A et al.
Indian Pacing and Electrophysiology Journal, 0