Associated Papers
Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.
Liu H et al.
Pacing and Clinical Electrophysiology : Pace, 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
Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1.
Akgun-Dogan O et al.
Journal of Cardiovascular Electrophysiology, 2022
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Zhang Y et al.
Frontiers in Pharmacology, 2022
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.
Adler A et al.
Circulation. Arrhythmia and Electrophysiology, 2016
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
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
[Neonatal forms of congenital long QT syndrome].
Lupoglazoff JM et al.
Archives Des Maladies Du Coeur Et Des Vaisseaux, 2004
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.
Lupoglazoff JM et al.
Journal of the American College of Cardiology, 2004