Peer-reviewed veterinary case report
Gene variant linked to epilepsy risk in Belgian Shepherds and other
By Koskinen, Lotta L E et al.·Published in BMC genomics·2015·University of Helsinki·View original on PubMed →
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Original publication title: Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene.
- Species:
- dog
Plain-English summary
A study found a genetic risk factor for idiopathic epilepsy in dogs, particularly in breeds like Belgian Shepherds, Schipperkes, Finnish Spitz, and Beagles. Researchers identified a specific area in the ADAM23 gene that appears to be linked to seizures in these breeds. The presence of this genetic variant was common among dogs with epilepsy, suggesting that it may increase the likelihood of developing this condition. While the exact cause of epilepsy remains unclear, this discovery could help in understanding and potentially treating epilepsy in dogs.
People also search for: dog seizures causes · Belgian Shepherd epilepsy risk · Beagle seizure treatment · genetic testing for dog epilepsy · Finnish Spitz seizure symptoms
Abstract
BACKGROUND: Idiopathic 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. RESULTS: We 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. CONCLUSIONS: These 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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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/26084559/