ArticleGenes2022
Validation of a Chromosome 14 Risk Haplotype for Idiopathic Epilepsy in the Belgian Shepherd Dog Found to Be Associated with an Insertion in the
Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed.PloS one · 2025Pooled it
- Extended Analysis of Status Epilepticus and Cluster Seizures in Dogs in the Context of Overall Epilepsy Incidence: 254 Cases.Animals : an open access journal from MDPI · 2025Article
- Genome-Wide Association Study of Age-Related Hearing Loss in CFW Mice Identifies Multiple Genes and Loci, Including Prkag2.Journal of the Association for Research in Otolaryngology : JARO · 2025Article
- Differential Gene Expression Associated with Idiopathic Epilepsy in Belgian Shepherd Dogs.Genes · 2024Article
- Cellular localization of a variant RAPGEF5 protein associated with idiopathic epilepsy risk in the Belgian shepherd.Canine medicine and genetics · 2024Article
- Idiopathic Epilepsy Risk Allele Trends in Belgian Tervuren: A Longitudinal Genetic Analysis.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
- 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
- Investigation of the presence of specific neural antibodies in dogs with epilepsy or dyskinesia using murine and human assays.Journal of veterinary internal medicineArticle
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
An idiopathic epilepsy (IE) risk haplotype on canine chromosome (CFA) 14 has been reported to interact with the CFA37 common risk haplotype in the Belgian shepherd (BS). Additional IE cases and control dogs were genotyped for the risk haplotypes to validate these previous findings. In the new cohort, the interaction between the two regions significantly elevated IE risk. When the haplotypes were analyzed individually, particular haplotypes on both CFA14 (ACTG) and 37 (GG) were associated with elevated IE risk, though only the CFA37 AA was significantly associated (p < 0.003) with reduced risk in the new cohort. However, the CFA14 ACTG risk was statistically significant when the new and previous cohort data were combined. The frequency of the ACTG haplotype was four-fold higher in BS dogs than in other breeds. Whole genome sequence analysis revealed that a 3-base pair predicted disruptive insertion in the RAPGEF5 gene, which is adjacent to the CFA14 risk haplotype. RAPGEF5 is involved in the Wnt-β-catenin signaling pathway that is crucial for normal brain function. Although this risk variant does not fully predict the likelihood of a BS developing IE, the association with a variant in a candidate gene may provide insight into the genetic control of canine IE.
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Registered trials
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