Associated Papers
Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults.
Palumbo O et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2026
Shared genetics in epilepsy and migraine: A scoping review.
Sahu P et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Genetic testing in cerebral palsy with clinical and neuroimaging variables.
Tantsis EM et al.
Developmental Medicine and Child Neurology, 2025
Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study.
Qiao Y et al.
Genes & Diseases, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D et al.
American Journal of Human Genetics, 2025
Phenotypic variability in cases with CACNA1A mutation.
Bozkaya-Yilmaz S et al.
European Journal of Pediatrics, 2025
A Longitudinal Exploration of CACNA1A -related Hemiplegic Migraine in Children.
Schaare D et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A Review of the CACNA Gene Family: Its Role in Neurological Disorders.
Szymanowicz O et al.
Diseases (basel, Switzerland), 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 Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.
Leduc-Pessah H et al.
Genes, 2022
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
Martínez-Monseny AF et al.
International Journal of Molecular Sciences, 2021
From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing.
Indelicato E et al.
Frontiers in Neurology, 2021
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.
Zhang L et al.
Frontiers in Pediatrics, 2020
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Jiang X et al.
Epilepsia, 2019
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
Balciuniene J et al.
Jama Network Open, 2019
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
Travaglini L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017
Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel Pathogenic Variant of the CACNA1A Gene.
Bhattacharjee S et al.
Neurology India, 0