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
Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death.
Modena M et al.
Human Genomics, 2024
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Genome Medicine, 2024
Polymodal Control of TMEM16x Channels and Scramblases.
Agostinelli E et al.
International Journal of Molecular Sciences, 2022
KCNE1 is an auxiliary subunit of two distinct ion channel superfamilies.
Ávalos Prado P et al.
Cell, 2021
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Faridi R et al.
Human Mutation, 2019
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia?
Leinonen JT et al.
International Journal of Cardiology, 2018
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
Abbott GW
Gene, 2016
High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia.
Hasdemir C et al.
Heart Rhythm, 2015
Arrhythmogenic KCNE gene variants: current knowledge and future challenges.
Crump SM et al.
Frontiers in Genetics, 2014
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
Stattin EL et al.
Bmc Cardiovascular Disorders, 2012
An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.
Sand PG et al.
Genes, 2010
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.
Ohno S et al.
Heart Rhythm, 2007
Compound mutations: a common cause of severe long-QT syndrome.
Westenskow P et al.
Circulation, 2004
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
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000