Associated Papers
Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures.
Matsumoto A et al.
Journal of Human Genetics, 2025
A Review of the CACNA Gene Family: Its Role in Neurological Disorders.
Szymanowicz O et al.
Diseases (basel, Switzerland), 2024
A Systematic Screening of ADHD-Susceptible Variants From 25 Chinese Parents-Offspring Trios.
Li Q et al.
Frontiers in Genetics, 2022
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
33985586 (PubMed )
Supplement: 13023_2021_1850_MOESM2_ESM.docx
CACNA1H variants are not a cause of monogenic epilepsy.
Calhoun JD et al.
Human Mutation, 2020
Genetic T-type calcium channelopathies.
Weiss N et al.
Journal of Medical Genetics, 2020
Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience.
Han JY et al.
Annals of Human Genetics, 2019
Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.
Han JY et al.
Frontiers in Pediatrics, 2018
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.
Daniil G et al.
Ebiomedicine, 2016
Select a paper to view details