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
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
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
First Cases of Spinocerebellar Ataxia 42 in Two Korean Families.
Son H et al.
Journal of Movement Disorders, 2023
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Ehtesham N et al.
Archives of Iranian Medicine, 2022
Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384.
Amadori E et al.
European Journal of Medical Genetics, 2022
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Symonds JD et al.
Brain : a Journal of Neurology, 2021
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.
Casas-Alba D et al.
American Journal of Medical Genetics. Part A, 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
De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
Kunii M et al.
Journal of the Neurological Sciences, 2020
Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy.
Berecki G et al.
International Journal of Molecular Sciences, 2020
Neuronal Cav3 channelopathies: recent progress and perspectives.
Lory P et al.
Pflugers Archiv : European Journal of Physiology, 2020
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.
Barresi S et al.
Pediatric Neurology, 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
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K et al.
Journal of Medical Genetics, 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