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
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
Prediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning.
Immadisetty K et al.
Journal of Molecular and Cellular Cardiology, 2023
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
Effect of moderate potassium-elevating treatment in long QT syndrome: the TriQarr Potassium Study.
Marstrand P et al.
Open Heart, 2021
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
Sudden infant death syndrome and inherited cardiac conditions.
Baruteau AE et al.
Nature Reviews. Cardiology, 2017
Ion channelopathies associated genetic variants as the culprit for sudden unexplained death.
Wang S et al.
Forensic Science International, 2017
Patients With Long-QT Syndrome Caused by Impaired hERG-Encoded Kv11.1 Potassium Channel Have Exaggerated Endocrine Pancreatic and Incretin Function Associated With Reactive Hypoglycemia.
Hyltén-Cavallius L et al.
Circulation, 2017
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
Christiansen M et al.
Bmc Medical Genetics, 2014
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
The long QT syndrome family of cardiac ion channelopathies: a HuGE review.
Modell SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome.
Christiansen M et al.
The American Journal of Cardiology, 2005
T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome.
Kanters JK et al.
Heart Rhythm, 2004
Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.
Larsen LA et al.
Clinical Chemistry, 2001
[Molecular genetics of the long QT syndrome. Genes causing syncope and sudden death].
Fosdal I et al.
Lakartidningen, 2001
T(peak)T(end) interval in long QT syndrome.
Kanters JK et al.
Journal of Electrocardiology, 0