ArticleBMC genomics2015
Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene.
Article in BMC genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 32 citations in OpenAlex.
- Differential Gene Expression Associated with Idiopathic Epilepsy in Belgian Shepherd Dogs.Genes · 2024Article
- Identification of a Novel Idiopathic Epilepsy Risk Locus and a Variant in theAnimals : an open access journal from MDPI · 2023Article
- Remarkable anecdotes illustrating the nature and effect of seizure-precipitating factors in Border Collies with idiopathic epilepsy.Frontiers in veterinary science · 2023Article
- Clinical characterization of epileptic seizures in Pomeranians with idiopathic epilepsy or epilepsy of unknown cause.Journal of veterinary internal medicine · 2022Article
- Multi-ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke.Brain : a journal of neurology · 2022Article
- Article
- Phenotypic characterization of idiopathic epilepsy and epilepsy of unknown cause in Irish Setters.Frontiers in veterinary science · 2022Article
- Quality of life in dogs with idiopathic epilepsy and their owners with an emphasis on breed-A pilot study.Frontiers in veterinary science · 2022Article
- Multi-ancestry genetic study in 5,876 patients identifies an association between excitotoxic genes and early outcomes after acute ischemic stroke.medRxiv : the preprint server for health sciences · 2020Article
- Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.Human genetics · 2019Review
- Molecular cloning and characterization of the family of feline leucine-rich glioma-inactivated (LGI) genes, and mutational analysis in familial spontaneous epileptic cats.BMC veterinary research · 2017Article
- Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- ADAM23 is a common risk gene for canine idiopathic epilepsy.BMC genetics · 2017Article
- Article
- Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.Neurology. Genetics · 2016Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIdiopathic epilepsy is a common neurological disease in human and domestic dogs but relatively few risk genes have been identified to date. The seizure characteristics, including focal and generalised seizures, are similar between the two species, with gene discovery facilitated by the reduced genetic heterogeneity of purebred dogs. We have recently identified a risk locus for idiopathic epilepsy in the Belgian Shepherd breed on a 4.4 megabase region on CFA37.
resultsWe have expanded a previous study replicating the association with a combined analysis of 157 cases and 179 controls in three additional breeds: Schipperke, Finnish Spitz and Beagle (p(c) = 2.9e-07, p(GWAS) = 1.74E-02). A targeted resequencing of the 4.4 megabase region in twelve Belgian Shepherd cases and twelve controls with opposite haplotypes identified 37 case-specific variants within the ADAM23 gene. Twenty-seven variants were validated in 285 cases and 355 controls from four breeds, resulting in a strong replication of the ADAM23 locus (p(raw) = 2.76e-15) and the identification of a common 28 kb-risk haplotype in all four breeds. Risk haplotype was present in frequencies of 0.49-0.7 in the breeds, suggesting that ADAM23 is a low penetrance risk gene for canine epilepsy.
conclusionsThese results implicate ADAM23 in common canine idiopathic epilepsy, although the causative variant remains yet to be identified. ADAM23 plays a role in synaptic transmission and interacts with known epilepsy genes, LGI1 and LGI2, and should be considered as a candidate gene for human epilepsies.
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