Associated Papers
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
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: Table2.xlsx › missense_variants
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
36277779 (PubMed )
Supplement: Data_Sheet_1.pdf
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
Clinical and genetic analysis of long QT syndrome in two Malay children.
Wong AR et al.
The Medical Journal of Malaysia, 2019
Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.
Perry MD et al.
The Journal of Physiology, 2016
Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?
Izumi G et al.
Pediatric Cardiology, 2016
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.
Bhuiyan ZA et al.
Frontiers in Pediatrics, 2013
Role of intracellular domains in the function of the herg potassium channel.
Al-Owais M et al.
European Biophysics Journal : Ebj, 2009
Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different?
Bhuiyan ZA et al.
Pediatric Cardiology, 2009
Select a paper to view details