Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.Y1384C
Back to variants list

CACNA1A

NM_001127221.2:p.Y1384C

Associated Papers

Shared genetics in epilepsy and migraine: A scoping review.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

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

A structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on Cav2.1 P/Q-type channel gating.

Sack AS et al.

Molecular Brain, 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

Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.

Grosso BJ et al.

Scientific Reports, 2022

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

Martínez-Monseny AF et al.

International Journal of Molecular Sciences, 2021

Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation.

Carreño O et al.

Headache, 0

Sporadic Hemiplegic Migraine with CACNA1A Mutation Masquerading as Acute Meningoencephalitis.

Gajam S et al.

Annals of Indian Academy of Neurology, 0

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."