Associated Papers
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Low foetal heart rate, a potentially ominous finding: case report.
Afana AS et al.
European Heart Journal. Case Reports, 2024
A distinct mechanism of C-type inactivation in the Kv-like KcsA mutant E71V.
Rohaim A et al.
Nature Communications, 2022
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A unique mechanism of inactivation gating of the Kv channel family member Kv7.1 and its modulation by PIP2 and calmodulin.
Lipinsky M et al.
Science Advances, 2020
Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.
Lin Y et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.
Koponen M et al.
Bmc Medical Genetics, 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
The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.
Huttunen H et al.
Frontiers in Endocrinology, 2018
Molecular pathogenesis of long QT syndrome type 1.
Wu J et al.
Journal of Arrhythmia, 2016
Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.
Koponen M et al.
Circulation. Arrhythmia and Electrophysiology, 2015
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
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
Cloninger's temperament traits and inherited long QT syndrome.
Määttänen I et al.
Journal of Psychosomatic Research, 2011
A history of stressful life events, prolonged mental stress and arrhythmic events in inherited long QT syndrome.
Hintsa T et al.
Heart (british Cardiac Society), 2010
The G314S KCNQ1 mutation exerts a dominant-negative effect on expression of KCNQ1 channels in oocytes.
Li W et al.
Biochemical and Biophysical Research Communications, 2009
Beta1-adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome.
Paavonen KJ et al.
International Journal of Cardiology, 2007
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
KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.
Chen S et al.
Clinical Genetics, 2003
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Long QT syndrome: ionic basis and arrhythmia mechanism in long QT syndrome type 1.
Sanguinetti MC
Journal of Cardiovascular Electrophysiology, 2000
[Hypokalemia, ventricular arrhythmia, ion channel defects, etc. Re: Conn syndrome and severe arrhythmia].
Novotný T et al.
Vnitrni Lekarstvi, 1999
Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.
Swan H et al.
Journal of the American College of Cardiology, 1999
Ion channel defects in cardiac arrhythmia.
Kirsch GE
The Journal of Membrane Biology, 1999
Dysfunction of delayed rectifier potassium channels in an inherited cardiac arrhythmia.
Sanguinetti MC
Annals of the New York Academy of Sciences, 1999
Molecular genetics of inherited long QT syndromes.
Geelen JL et al.
European Heart Journal, 1998
Heritability in genetic heart disease: the role of genetic background.
Jansweijer JA et al.
Open Heart, 0