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
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
40200748 (PubMed )
Supplement: IFCA_A_2484128_SM1099.xlsx › Sheet1
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_MOESM2_ESM.xlsx › LitReview
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
Roberts JD et al.
Circulation, 2020
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Faridi R et al.
Human Mutation, 2019
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?
Roberts JD et al.
Circulation. Arrhythmia and Electrophysiology, 2017
Relevance of molecular testing in patients with a family history of sudden death.
Kauferstein S et al.
Forensic Science International, 2017
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
Abbott GW
Gene, 2016
High-throughput genetic characterization of a cohort of Brugada syndrome patients.
Di Resta C et al.
Human Molecular Genetics, 2015
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
23098067 (PubMed )
Supplement: 1471-2261-12-95-S2.pdf
An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.
Sand PG et al.
Genes, 2010
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