Associated Papers
Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2.
Vanoye CG et al.
Biorxiv : the Preprint Server for Biology, 2025
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Genome Medicine, 2024
Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy.
Nielsen SK et al.
Jacc. Advances, 2023
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
Roberts JD et al.
Circulation, 2020
Impaired Adrenergic/Protein Kinase A Response of Slow Delayed Rectifier Potassium Channels as a Long QT Syndrome Motif: Importance and Unknowns.
Policarová M et al.
The Canadian Journal of Cardiology, 2019
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Faridi R et al.
Human Mutation, 2019
Re-evaluating pathogenicity of variants associated with the long QT syndrome.
Kaltman JR et al.
Journal of Cardiovascular Electrophysiology, 2018
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
Abbott GW
Gene, 2016
Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval.
Ghouse J et al.
European Heart Journal, 2015
Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.
Dvir M et al.
Journal of Cell Science, 2014
Arrhythmogenic KCNE gene variants: current knowledge and future challenges.
Crump SM et al.
Frontiers in Genetics, 2014
High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
Refsgaard L et al.
European Journal of Human Genetics : Ejhg, 2012
An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.
Sand PG et al.
Genes, 2010
N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.
Ohno S et al.
Heart Rhythm, 2007
Characterization of an LQT5-related mutation in KCNE1, Y81C: implications for a role of KCNE1 cytoplasmic domain in IKs channel function.
Wu DM et al.
Heart Rhythm, 2006
Mutations in KCNE1 in long QT syndrome (LQTS): insights into mechanism of LQTS and drug sensitivity?
Vatta M et al.
Heart Rhythm, 2006
The long QT syndrome family of cardiac ion channelopathies: a HuGE review.
Modell SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Why are some human disease-associated mutations fixed in mice?
Gao L et al.
Trends in Genetics : Tig, 2003
Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.
Ackerman MJ et al.
Mayo Clinic Proceedings, 2003
[A novel KCNQ1 mutation in Chinese with congenital long QT syndrome].
Liang L et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2003
Characterization of a novel Long QT syndrome mutation G52R-KCNE1 in a Chinese family.
Ma L et al.
Cardiovascular Research, 2003
A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.
Schulze-Bahr E et al.
Journal of Molecular Medicine (berlin, Germany), 2001