02257: Identification of Genetic Risk Factors for Canine Epilepsy

Grant Status: Closed

Grant Amount: $110,081
Gary S. Johnson, DVM, PhD; University of Missouri, Columbia
May 1, 2016 - December 31, 2018

Sponsor(s): American Belgian Tervuren Club, Inc., American German Shepard Dog Charitable Foundation, Inc., Cane Corso Association of America, Friends of the Cane Corso, Health and Rescue Foundation of PBGV Club of America, International Cane Corso Federation, Irish Setter Club of America Foundation, Labrador Retriever Club, Inc., National Beagle Club, Orthopedic Foundation for Animals Inc., Rhodesian Ridgeback Club of the United States, St. Bernard Club of America, Standard Schnauzer Club of America, United States Australian Shepherd Foundation

Breed(s): -All Dogs
Research Program Area: Neurology, Epilepsy Initiative
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Epilepsy is one of the most common neurologic diseases of dogs and a top concern of dog breeders. Despite strong evidence that genetics is important in determining the risk of idiopathic epilepsy, numerous gene mapping studies have failed to identify a locus that accounts for that risk in either dogs or humans. Seizures occur when excessive activity goes beyond the normal threshold for brain function, many factors contribute to that level of activity, and therefore, mutations in numerous genes may collectively contribute to increased activity until that threshold is exceeded, resulting in epilepsy. Any one of these mutations may be present in non-epileptic dogs, but because it only partially alters activity, it would not produce seizures. Therefore, traditional gene mapping studies might overlook that mutation. Using a novel whole genome sequencing approach the investigators hope to identify DNA variations in epileptic dogs that could affect the function of genes such as ion channels and neurotransmitter receptors that have been shown to alter the seizure threshold in humans or rodents. The frequency of such variations in populations of epileptic and non-epileptic dogs will be directly compared rather than the indirect markers used in traditional mapping studies. The increased power provided by looking for specific gene candidate variations rather than linked markers will aid the identification of epilepsy risk factors, perhaps leading to the development of DNA tests to enable breeders to select against such risk factors.


Kolicheski, A., Johnson, G. S., Villani, N. A., O’Brien, D. P., Mhlanga-Mutangadura, T., Wenger, D. A., … Katz, M. L. (2017). GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB. Journal of Veterinary Internal Medicine, 31(5), 1520–1526. https://doi.org/10.1111/jvim.14794

Kolicheski, A., Barnes Heller, H. L., Arnold, S., Schnabel, R. D., Taylor, J. F., Knox, C. A., … Katz, M. L. (2017). Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis. Journal of Veterinary Internal Medicine, 31(1), 149–157. https://doi.org/10.1111/jvim.14632

Villani, N. A., Bullock, G., Michaels, J. R., Yamato, O., O’Brien, D. P., Mhlanga Mutangadura, T., … Katz, M. L. (2019). A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in border collies and Australian cattle dogs. Molecular Genetics and Metabolism. https://doi.org/10.1016/j.ymgme.2019.04.003

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