Associated Papers
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders.
Kurganov E et al.
Science Translational Medicine, 2025
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL et al.
Ebiomedicine, 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
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
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
The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.
Indelicato E et al.
European Journal of Neurology, 2019
Therapy of episodic ataxias: case report and review of the literature.
Orsucci D et al.
Drugs in Context, 2019
Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2.
Sivák Š et al.
Journal of the Neurological Sciences, 2017
Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients.
Hadjivassiliou M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Mutations in the Voltage Dependent Calcium Channel CACNA1A (P/Q type alpha 1A subunit) Causing Neurological Disorders - An Overview.
Manickam AH et al.
Neurology India, 0
Select a paper to view details