Associated Papers
SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.
Chatelain FC et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2026
41443252 (PubMed )
Supplement: euaf327_supplementary_data.zip › Table-S1-V2.xlsx › All_missense_variants
Voltage sensor conformations induced by LQTS-associated mutations in hERG potassium channels.
Chan AN et al.
Nature Communications, 2025
Voltage Sensor Conformations Induced by LQTS-associated Mutations in hERG Potassium Channels.
Chan AN et al.
Biorxiv : the Preprint Server for Biology, 2025
An LQT2-related mutation in the voltage-sensing domain is involved in switching the gating polarity of hERG.
Liu Z et al.
Bmc Biology, 2024
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
36860515 (PubMed )
Supplement: Table1.XLSX › missense_variants
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
32431610 (PubMed )
Supplement: Table_1.xlsx › mutation_list
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
25417810 (PubMed )
Supplement: NIHMS634670-supplement-1.pdf
Pathophysiological role of omega pore current in channelopathies.
Jurkat-Rott K et al.
Frontiers in Pharmacology, 2012
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
Millat G et al.
Clinical Genetics, 2006
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