Associated Papers
Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A.
Mammadova D 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
37555011 (PubMed )
Supplement: Table_8.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
33985586 (PubMed )
Supplement: 13023_2021_1850_MOESM2_ESM.docx
An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.
Epperson MV et al.
Journal of Child Neurology, 2018
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
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