Validation of a Chromosome 14 Risk Haplotype for Idiopathic Epilepsy in the Belgian Shepherd Dog Found to Be Associated with an Insertion in the RAPGEF5 Gene

Belanger, Janelle M.; Heinonen, Tiina; Famula, Thomas R.; Mandigers, Paul J. J.; Leegwater, Peter A. J.; Hytönen, Marjo K.; Lohi, Hannes; Oberbauer, Anita M.

doi:10.3390/genes13071124

Cited by 10 publications

(9 citation statements)

References 34 publications

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“…Two recent studies identified additional risk haplotypes in the Belgian Shepherd: a significant association between canine IE and a risk haplotype on chromosome 14 ( 9 , 10 ).…”

Section: Introductionmentioning

confidence: 99%

Phenotypic characterization of idiopathic epilepsy and epilepsy of unknown cause in Irish Setters

et al. 2022

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Canine epileptic seizures are common neurological symptom presenting to veterinary practice. Idiopathic epilepsy (IE) with a suspected genetic background has been reported in several dog breeds. Although it has been reported in the Irish Setter (IS), the phenotypic characteristics have not yet been described. The aim of this study was to characterize the phenotype of IE in this breed and to trace its mode of inheritance.Owners of IS were requested to fill in a questionnaire via the Dutch Irish Setter Club concerning the epileptic seizures in their dogs. The data was assessed retrospectively using descriptive statistics. Forty-eight privately owned IS dogs fulfilling tier I criteria for IE according to the International Veterinary Epilepsy Task Force of both sexes were included in the study. The mean age of seizure onset was 41 months. Five of the dogs included in the study had an onset of seizures >6 years of age. These dogs were classified with epilepsy of unknown cause (EUC). Primary generalized tonic-clonic seizures were the most common type of seizure and were seen in almost all dogs. Cluster seizures were reported in 54% of the studied population. Most owners reported pre- (56%) and post-ictal (97%) signs in their dogs. A pedigree analysis of one subpopulation was performed and traced the lineage of 13 affected IS. A segregation analysis of this population rejected a simple autosomal recessive inheritance pattern. The present study supports the occurrence of IE and EUC in the IS. The results provide clinical insight into epileptic seizures in this breed and may be a starting point for further, including genetic, analysis.

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“…Two recent studies identified additional risk haplotypes in the Belgian Shepherd: a significant association between canine IE and a risk haplotype on chromosome 14 ( 9 , 10 ).…”

Section: Introductionmentioning

confidence: 99%

Phenotypic characterization of idiopathic epilepsy and epilepsy of unknown cause in Irish Setters

et al. 2022

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“…The etiology of idiopathic epilepsy with onset in adult dogs remains largely unknown. There might be a complex and multifactorial etiology with an interaction of multiple genetic risk variants and environmental factors 6 …”

Section: Introductionmentioning

confidence: 99%

“…There might be a complex and multifactorial etiology with an interaction of multiple genetic risk variants and environmental factors. 6 …”

Section: Introductionmentioning

confidence: 99%

Investigation of the presence of specific neural antibodies in dogs with epilepsy or dyskinesia using murine and human assays

Hemmeter¹,

Bien

et al. 2023

Veterinary Internal Medicne

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Background Autoimmune mechanisms represent a novel category for causes of seizures and epilepsies in humans, and LGI1‐antibody associated limbic encephalitis occurs in cats. Hypothesis/Objectives To investigate the presence of neural antibodies in dogs with epilepsy or dyskinesia of unknown cause using human and murine assays modified for use in dogs. Animals Fifty‐eight dogs with epilepsy of unknown cause or suspected dyskinesia and 57 control dogs. Methods Serum and CSF samples were collected prospectively as part of the diagnostic work‐up. Clinical data including onset and seizure/episode type were retrieved from the medical records. Screening for neural antibodies was done with cell‐based assays transfected with human genes for typical autoimmune encephalitis antigens and tissue‐based immunofluorescence assays on mouse hippocampus slices in serum and CSF samples from affected dogs and controls. The commercial human und murine assays were modified with canine‐specific secondary antibody. Positive controls were from human samples. Results The commercial assays used in this study did not provide unequivocal evidence for presence of neural antibodies in dogs including one dog with histopathologically proven limbic encephalitis. Low titer IgLON5 antibodies were present in serum from one dog from the epilepsy/dyskinesia group and in one dog from the control group. Conclusion and Clinical Importance Specific neural antibodies were not detected using mouse and human target antigens in dogs with epilepsy and dyskinesia of unknown origin. These findings emphasize the need for canine‐specific assays and the importance of control groups.

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“…. number of breeds (9)(10)(11)(12), including the BC (13). Several possible genetic associations have been found in this breed (13).…”

Section: Introductionmentioning

confidence: 99%

Remarkable anecdotes illustrating the nature and effect of seizure-precipitating factors in Border Collies with idiopathic epilepsy

Mandigers,

Santifort

2023

Front. Vet. Sci.

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Epilepsy is one of the most common chronic neurological syndromes in dogs and has serious implications for the quality of life of both the dogs and owners. Seizure-precipitating factors (SPFs) (also termed “triggers” or “provocative factors”) have been studied and reported in both humans and dogs with idiopathic epilepsy. In dogs stress, hormones, sleep deprivation, and the weather have been reported as SPFs. The Border Collie (BC) is a breed of dog that is predisposed to idiopathic epilepsy, and the outcome is often poor. BC is described as a very sensitive dog with a strong focus on their owners, and this may have an influence on their and their owners' stress level. In this article, we described six unrelated BCs with idiopathic epilepsy in which several remarkable SPFs were identified, and avoiding them improved the outcome of these dogs. The possible SPFs were different for each dog. The SPFs were, among others, the other dog in the family, the lack of intellectual challenge, the presence of an autistic child, a busy street, the relation with the owner, and throwing a ball at the beach. These cases illustrate that recognizing the SPF(s) and taking measures with regard to management can lead to a reduction in epileptic seizure frequency or even achieving seizure freedom.

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Validation of a Chromosome 14 Risk Haplotype for Idiopathic Epilepsy in the Belgian Shepherd Dog Found to Be Associated with an Insertion in the RAPGEF5 Gene

Cited by 10 publications

References 34 publications

Phenotypic characterization of idiopathic epilepsy and epilepsy of unknown cause in Irish Setters

Phenotypic characterization of idiopathic epilepsy and epilepsy of unknown cause in Irish Setters

Investigation of the presence of specific neural antibodies in dogs with epilepsy or dyskinesia using murine and human assays

Remarkable anecdotes illustrating the nature and effect of seizure-precipitating factors in Border Collies with idiopathic epilepsy

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