Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.V1396M
Back to variants list

CACNA1A

NM_001127221.2:p.V1396M

Associated Papers

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

Phenotypic variability in cases with CACNA1A mutation.

Bozkaya-Yilmaz S et al.

European Journal of Pediatrics, 2025

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

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.

Martínez-Monseny AF et al.

International Journal of Molecular Sciences, 2021

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Luo X et al.

Plos Genetics, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."