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
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
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
The genetic architecture of long QT syndrome: A critical reappraisal.
Giudicessi JR et al.
Trends in Cardiovascular Medicine, 2018
Cardiac Delayed Rectifier Potassium Channels in Health and Disease.
Chen L et al.
Cardiac Electrophysiology Clinics, 2016
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
Abbott GW
Gene, 2016
Arrhythmogenic KCNE gene variants: current knowledge and future challenges.
Crump SM et al.
Frontiers in Genetics, 2014
24478792 (PubMed )
Supplement: DataSheet1.DOCX
Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.
Du C et al.
Physiological Reports, 2013
An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.
Sand PG et al.
Genes, 2010
The role of abnormal trafficking of KCNE1 in long QT syndrome 5.
Harmer SC et al.
Biochemical Society Transactions, 2007
Molecular mechanisms underlying the long QT syndrome.
Dumaine R et al.
Current Opinion in Cardiology, 2002
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
MinK subdomains that mediate modulation of and association with KvLQT1.
Tapper AR et al.
The Journal of General Physiology, 2000
Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.
Bianchi L et al.
Human Molecular Genetics, 1999
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