ArticleEuropean journal of human genetics : EJHG2015
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
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Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 97 citations in OpenAlex.
- N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.International journal of molecular sciences · 2023Pooled it
- Calcium channelopathies and intellectual disability: a systematic review.Orphanet journal of rare diseases · 2021Pooled it
- Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.Human genetics · 2015Trial
- Proteome profiling of cerebrospinal fluid-derived extracellular vesicles reveals potential biomarkers for drug-resistant epilepsy.Clinical proteomics · 2025Article
- The VGCC auxiliary subunit α2δ1 is an extracellular GluA1 interactor and regulates LTP, spatial memory, and seizure susceptibility.bioRxiv : the preprint server for biology · 2024Article
- Voltage-gated calcium channels in genetic epilepsies.Journal of neurochemistry · 2024Review
- Autism-Linked Mutations in αPharmaceuticals (Basel, Switzerland) · 2024Article
- Classification of Current Experimental Models of Epilepsy.Brain sciences · 2024Review
- Novel heterozygous mutation of CACNA2D1 gene in a Chinese family with arrhythmia.BMC cardiovascular disorders · 2024Article
- X chromosome dosage and the genetic impact across human tissues.Genome medicine · 2023Article
- Common genetic risk factors in ASD and ADHD co-occurring families.Human genetics · 2023Article
- Article
- Pathophysiological Roles of Auxiliary Calcium Channel αHandbook of experimental pharmacology · 2023Article
- Article
- Antiseizure medication in early nervous system development. Ion channels and synaptic proteins as principal targets.Frontiers in pharmacology · 2022Review
- Tripartite synaptomics: Cell-surface proximity labeling in vivo.Neuroscience research · 2021Review
- More than a pore: How voltage-gated calcium channels act on different levels of neuronal communication regulation.Channels (Austin, Tex.) · 2021Review
- Role of High Voltage-Gated CaCells · 2021Review
- Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.Brain sciences · 2021Article
- Multivariate genome-wide analysis of education, socioeconomic status and brain phenome.Nature human behaviour · 2021Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Voltage-gated calcium channels have an important role in neurotransmission. Aberrations affecting genes encoding the alpha subunit of these channels have been associated with epilepsy and neuropsychiatric disorders such as autism or schizophrenia. Here we report three patients with a genomic aberration affecting the CACNA2D1 gene encoding the α2δ subunit of these voltage-gated calcium channels. All three patients present with epilepsy and intellectual disability pinpointing the CACNA2D1 gene as an interesting candidate gene for these clinical features. Besides these characteristics, patient 2 also presents with obesity with hyperinsulinism, which is very likely to be caused by deletion of the CD36 gene.
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