Associated Papers
Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.
Vanoye CG et al.
Circulation. Genomic and Precision Medicine, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
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
Congenital Hyperinsulinism and Long QT Syndrome Attributable to a Variant in KCNE1.
Sigal W et al.
Hormone Research in Paediatrics, 2025
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Genome Medicine, 2024
38816749 (PubMed )
Supplement: 13073_2024_1340_MOESM1_ESM.xlsx › ClinVar
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Faridi R et al.
Human Mutation, 2019
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
Abbott GW
Gene, 2016
Instability of KCNE1-D85N that causes long QT syndrome: stabilization by verapamil.
Sakata S et al.
Pacing and Clinical Electrophysiology : Pace, 2014
Arrhythmogenic KCNE gene variants: current knowledge and future challenges.
Crump SM et al.
Frontiers in Genetics, 2014
24478792 (PubMed )
Supplement: DataSheet1.DOCX
An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.
Sand PG et al.
Genes, 2010
Mechanisms of disease pathogenesis in long QT syndrome type 5.
Harmer SC et al.
American Journal of Physiology. Cell Physiology, 2010
Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.
Wang C et al.
Ophthalmic Genetics, 2008
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