Associated Papers
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.
Lee S et al.
Npj Genomic Medicine, 2025
41354729 (PubMed )
Supplement: 41525_2025_538_MOESM1_ESM.pdf
A Longitudinal Exploration of CACNA1A -related Hemiplegic Migraine in Children.
Schaare D et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Clinical and genetic characterization of CACNA1A-related disease.
Lipman AR et al.
Clinical Genetics, 2022
The complexities of CACNA1A in clinical neurogenetics.
Hommersom MP et al.
Journal of Neurology, 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
CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.
Zhang L et al.
Frontiers in Pediatrics, 2020
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Luo X et al.
Plos Genetics, 2017
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