Associated Papers
Tiered modelling of a CACNA1A D1634N mutation linked to ataxia, epilepsy and cognitive deficits.
Niu J et al.
Brain : a Journal of Neurology, 2026
Altered Gating of Two CaV2.1 Variants Linked to Neurodevelopmental Disorders With Epilepsy and Migraine.
Meza U et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Functional Characterization of Four Known Cav2.1 Variants Associated with Neurodevelopmental Disorders.
Folacci M et al.
Membranes, 2023
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
37555011 (PubMed )
Supplement: Table_2.docx
Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.
Niu X et al.
Developmental Medicine and Child Neurology, 2022
CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.
Li XL et al.
Frontiers in Molecular Neuroscience, 2022
35600082 (PubMed )
Supplement: Table_1.DOCX
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
34727962 (PubMed )
Supplement: 13023_2021_2101_MOESM1_ESM.xlsx › supplementary_1
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
Martínez-Monseny AF et al.
International Journal of Molecular Sciences, 2021
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Jiang X et al.
Epilepsia, 2019
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