Associated Papers
Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement.
Underwood JFG et al.
Research Square, 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
International Cohort of Neonatal Timothy Syndrome.
Matthews A et al.
Neonatology, 2024
Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.
Jiang C et al.
Expert Reviews in Molecular Medicine, 2023
CACNA1C-Related Channelopathies.
Herold KG et al.
Handbook of Experimental Pharmacology, 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
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.
Sadeh TT et al.
Frontiers in Genetics, 2021
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.
Striessnig J
Frontiers in Synaptic Neuroscience, 2021
Update on the Molecular Genetics of Timothy Syndrome.
Bauer R et al.
Frontiers in Pediatrics, 2021
Involvement of Calcium-Dependent Pathway and β Subunit-Interaction in Neuronal Migration and Callosal Projection Deficits Caused by the Cav1.2 I1166T Mutation in Developing Mouse Neocortex.
Nakagawa-Tamagawa N et al.
Frontiers in Neuroscience, 2021
Novel Gain-of-Function Variant in CACNA1C Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy.
Kelu Bisabu K et al.
Circulation. Genomic and Precision Medicine, 2020
Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndrome.
Marcantoni A et al.
Pflugers Archiv : European Journal of Physiology, 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
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
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.
Bozarth X et al.
American Journal of Medical Genetics. Part A, 2018
Autism throughout genetics: Perusal of the implication of ion channels.
Daghsni M et al.
Brain and Behavior, 2018
A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects.
Ozawa J et al.
Heartrhythm Case Reports, 2018
Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.
Zhang Q et al.
Channels (austin, Tex.), 2018
Calcium Signaling and Cardiac Arrhythmias.
Landstrom AP et al.
Circulation Research, 2017
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.
Sepp R et al.
American Journal of Medical Genetics. Part A, 2017
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
Computational Cardiac Modeling Reveals Mechanisms of Ventricular Arrhythmogenesis in Long QT Syndrome Type 8: CACNA1C R858H Mutation Linked to Ventricular Fibrillation.
Bai J et al.
Frontiers in Physiology, 2017
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
Calcium Revisited: New Insights Into the Molecular Basis of Long-QT Syndrome.
Giudicessi JR et al.
Circulation. Arrhythmia and Electrophysiology, 2016
Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders.
Heyes S et al.
Progress in Neurobiology, 2015
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
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.
Wemhöner K et al.
Journal of Molecular and Cellular Cardiology, 2015
Novel Timothy syndrome mutation leading to increase in CACNA1C window current.
Boczek NJ et al.
Heart Rhythm, 2015
Calcium Channel Mutations in Cardiac Arrhythmia Syndromes.
Betzenhauser MJ et al.
Current Molecular Pharmacology, 2015