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
Characterization of a variant in the KCNH2 gene in an Ecuadorian patient with long QT syndrome: A case report.
Cadena-Ullauri S et al.
Medwave, 2025
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38370760 (PubMed )
Supplement: media-2.xlsx › Table_S5
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
The Mutation P.T613a in the Pore Helix of the Kv 11.1 Potassium Channel is Associated with Long QT Syndrome.
Poulsen KL et al.
Pacing and Clinical Electrophysiology : Pace, 2015
Pore helices play a dynamic role as integrators of domain motion during Kv11.1 channel inactivation gating.
Perry MD et al.
The Journal of Biological Chemistry, 2013
Molecular coupling in the human ether-a-go-go-related gene-1 (hERG1) K+ channel inactivation pathway.
Ferrer T et al.
The Journal of Biological Chemistry, 2011
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