Associated Papers
Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders.
Hommersom MP et al.
Stem Cell Reports, 2026
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders.
Kurganov E et al.
Science Translational Medicine, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study.
Podkorytova I et al.
The Journal of International Medical Research, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
A Longitudinal Exploration of CACNA1A-Related Hemiplegic Migraine in Children Using Electronic Medical Records.
Schaare D et al.
Neurology. Genetics, 2025
Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing.
Lee S et al.
Journal of Clinical Neurology (seoul, Korea), 2024
A Longitudinal Exploration of CACNA1A -related Hemiplegic Migraine in Children.
Schaare D et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature.
Schaare D et al.
Genes, 2023
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
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.
Niu X et al.
Developmental Medicine and Child Neurology, 2022
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.
Chuan Z et al.
Frontiers in Genetics, 2022
CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.
Li XL et al.
Frontiers in Molecular Neuroscience, 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
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Jiang T et al.
Frontiers in Molecular Neuroscience, 2021
CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.
Zhang L et al.
Frontiers in Pediatrics, 2020
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Butler KM et al.
Pediatric Neurology, 2017
Developing a pathway to clinical trials for CACNA1A-related epilepsies: A patient organization perspective.
Fox PM et al.
Therapeutic Advances in Rare Disease, 0