Associated Papers
Arrhythmogenic Cardiomyopathy Is a New Phenotype Associated With the CACNA1C p.Arg518Cys (R518C) Variant.
Boiteux C et al.
Jacc. Clinical Electrophysiology, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Evaluation of CACNA1C-Positive Patients Evaluated in a Tertiary Genetic Heart Rhythm Clinic.
Yu L et al.
Journal of Cardiovascular Translational Research, 2025
Management of ultrarare inherited arrhythmia syndromes.
Roston TM et al.
Heart Rhythm, 2025
A Natural History Study of Timothy Syndrome.
Timothy KW et al.
Orphanet Journal of Rare Diseases, 2024
A Natural History Study of Timothy Syndrome.
Timothy KW et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Hypertrophic cardiomyopathy and long QT syndrome in cardiac-only Timothy syndrome.
Einhorn NR et al.
Heartrhythm Case Reports, 2023
Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow.
Chumakova OS et al.
Frontiers in Cardiovascular Medicine, 2023
Importance of genetic testing in unexplained cardiac arrest.
Grondin S et al.
European Heart Journal, 2022
Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome.
Nakajima T et al.
Plos One, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.
Tarnovskaya SI et al.
Membranes, 2021
Expanding the phenotype of CACNA1C mutation disorders.
Gakenheimer-Smith L et al.
Molecular Genetics & Genomic Medicine, 2021
Update on the Molecular Genetics of Timothy Syndrome.
Bauer R et al.
Frontiers in Pediatrics, 2021
An NGS-based genotyping in LQTS; minor genes are no longer minor.
Ohno S et al.
Journal of Human Genetics, 2020
High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8.
Fukuyama M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2020
Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site.
Mellor GJ 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
Cardiac-only Timothy Syndrome (COTS): Peripartum Cardiomyopathy and Long QT Syndrome.
Larrañaga-Moreira JM et al.
Revista Espanola De Cardiologia (english Ed.), 2019
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 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
Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.
Landstrom AP et al.
International Journal of Cardiology, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.
Boczek NJ et al.
Circulation. Arrhythmia and Electrophysiology, 2015