Associated Papers
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.
Qebibo L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Electrophysiological classification of CACNA1G gene variants associated with neurodevelopmental and neurological disorders.
Davakan A et al.
Frontiers in Pharmacology, 2025
Clinical application of whole-exome sequencing analysis in childhood epilepsy.
Gavaz M et al.
Journal of Neurogenetics, 2024
39654149 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_materials
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D et al.
International Journal of Molecular Sciences, 2023
The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ et al.
Jci Insight, 2023
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
Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy.
Berecki G et al.
International Journal of Molecular Sciences, 2020
Genetic T-type calcium channelopathies.
Weiss N et al.
Journal of Medical Genetics, 2020
Cryo-EM structures of apo and antagonist-bound human Cav3.1.
Zhao Y et al.
Nature, 2019
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Chemin J et al.
Brain : a Journal of Neurology, 2018
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