Associated Papers
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Evaluation of CACNA1C-Positive Patients Evaluated in a Tertiary Genetic Heart Rhythm Clinic.
Yu L et al.
Journal of Cardiovascular Translational Research, 2025
A Natural History Study of Timothy Syndrome.
Timothy KW et al.
Orphanet Journal of Rare Diseases, 2024
The Role of Human-Induced Pluripotent Stem Cells in Studying Cardiac Channelopathies.
Begovic M et al.
International Journal of Molecular Sciences, 2024
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization.
Ye D et al.
Circulation. Genomic and Precision Medicine, 2024
A Natural History Study of Timothy Syndrome.
Timothy KW et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Structural bases of inhibitory mechanism of CaV1.2 channel inhibitors.
Wei Y et al.
Nature Communications, 2024
Automated Patch-Clamp and Induced Pluripotent Stem Cell-Derived Cardiomyocytes: A Synergistic Approach in the Study of Brugada Syndrome.
Melgari D et al.
International Journal of Molecular Sciences, 2023
Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Gao J et al.
Circulation. Arrhythmia and Electrophysiology, 2023
Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model.
Kashiwa A et al.
Heart Rhythm, 2023
Development of automated patch clamp assays to overcome the burden of variants of uncertain significance in inheritable arrhythmia syndromes.
Ma JG et al.
Frontiers in Physiology, 2023
Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly.
Ozawa J et al.
Scientific Reports, 2022
Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, "cardiac only" Timothy syndrome and isolated long QT syndrome 8: A systematic review.
Borbás J et al.
Frontiers in Cardiovascular Medicine, 2022
Update on the Molecular Genetics of Timothy Syndrome.
Bauer R et al.
Frontiers in Pediatrics, 2021
Molecular and genetic insights into progressive cardiac conduction disease.
Asatryan B 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, 2019
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O et al.
Journal of Clinical Medicine, 2019
A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.
Ye D et al.
Heart Rhythm, 2019
Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.
Gardner RJM et al.
Molecular Genetics & Genomic Medicine, 2019
Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.
Zhang Q et al.
Channels (austin, Tex.), 2018
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.
Burns C et al.
Journal of Arrhythmia, 2016
Calcium Channel Mutations in Cardiac Arrhythmia Syndromes.
Betzenhauser MJ et al.
Current Molecular Pharmacology, 2015
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
What can naturally occurring mutations tell us about Ca(v)1.x channel function?
Stockner T et al.
Biochimica Et Biophysica Acta, 2013
Inherited calcium channelopathies in the pathophysiology of arrhythmias.
Venetucci L et al.
Nature Reviews. Cardiology, 2012
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel.
Napolitano C et al.
Circulation Research, 2011