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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.    Electronic supplementary material  The online version of this article (doi:10.1186/s12864-015-1651-9) contains supplementary material, which is available to authorized users.

Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene