Associated Papers
Mitochondrial and lysosomal dysfunctions might be involved in the pathogenesis of the CACNA1A-related neurodevelopmental disorders according to in vitro studies.
Kessi M et al.
Biological Research, 2025
P/Q-type voltage-gated calcium channels regulate calcium signaling and developmental myelination in oligodendrocyte lineage cells.
Piller M et al.
Biorxiv : the Preprint Server for Biology, 2025
AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings.
Romero VI et al.
Frontiers in Neurology, 2024
The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews.
Kessi M et al.
Frontiers in Molecular Neuroscience, 2023
Clinical and genetic characterization of CACNA1A-related disease.
Lipman AR et al.
Clinical Genetics, 2022
The complexities of CACNA1A in clinical neurogenetics.
Hommersom MP et al.
Journal of Neurology, 2022
Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.
Niu X et al.
Developmental Medicine and Child Neurology, 2022
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Ghorbani F et al.
Frontiers in Genetics, 2022
Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients.
Alehabib E et al.
Orphanet Journal of Rare Diseases, 2021
Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.
Haj Salem I et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.
Jaudon F et al.
Biomedicines, 2020
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
Stendel C et al.
International Journal of Molecular Sciences, 2020
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
Maksemous N et al.
Molecular Genetics & Genomic Medicine, 2016
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.
Tomlinson SE et al.
Brain : a Journal of Neurology, 2016