Associated Papers
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.
Delinière A et al.
The Journal of Physiology, 2025
A Novel Gain-of-Function CACNA1C Variant (Gly856Asp) Associated With QT Prolongation and Sudden Death.
Tadros R et al.
Jacc. Case Reports, 2025
A CACNA1C variant associated with cardiac arrhythmias provides mechanistic insights in the calmodulation of L-type Ca2+ channels.
Zhao J et al.
The Journal of Biological Chemistry, 2022
L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.
Tarnovskaya SI et al.
Membranes, 2021
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
33985586 (PubMed )
Supplement: 13023_2021_1850_MOESM2_ESM.docx
An autism-associated calcium channel variant causes defects in neuronal polarity in the ALM neuron of C. elegans.
Buddell T et al.
Micropublication Biology, 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
Clinical characterization and outcome of prolonged heart rate-corrected QT interval among children with syndactyly.
Han H et al.
Medicine, 2020
An autism-causing calcium channel variant functions with selective autophagy to alter axon targeting and behavior.
Buddell T et al.
Plos Genetics, 2019
Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2-neo mouse rescued by L-type calcium channel blockers.
Calorio C et al.
The Journal of Physiology, 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
Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder.
Dufendach KA et al.
Jacc. Clinical Electrophysiology, 2018
Calcium Revisited: New Insights Into the Molecular Basis of Long-QT Syndrome.
Giudicessi JR et al.
Circulation. Arrhythmia and Electrophysiology, 2016
A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.
Hennessey JA et al.
Plos One, 2014
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
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