002304: Continued Investigation into the Molecular Genetic Causes of Canine Epilepsies

Grant Status: Closed

Grant Amount: $100,000
Gary S. Johnson, DVM PhD; University of Missouri, Columbia
May 28, 2002 - June 30, 2004

Sponsor(s): American Spaniel Club Foundation, AWS Partners, Collie Health Foundation, Dalmatian Club of America Foundation, Inc., English Springer Spaniel Field Trial Association Foundation, Gordon Setter Club of America, Inc., Greater Swiss Mountain Dog Club of America, Inc., Irish Setter Club of America Foundation, Irish Water Spaniel Club of America, St. Bernard Club of America, Standard Schnauzer Club of America, Welsh Springer Spaniel Club of America

Breed(s): -All Dogs
Research Program Area: Neurology
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In our on-going study of canine epilepsy, we have found that most canine epilepsy families do not follow the simple inheritance patterns described by Gregor Mendel. This suggests that epilepsy results when a dog inherits mutations in two or more different genes. Mutations involving two or more genes are also thought to be responsible for the vast majority of human epilepsy that occurs in families. Mendelian inheritance is encountered in rare types of human epilepsy and in many of these families the epilepsy-causing mutation has been found by genome mapping. We appear to have found Mendelian inheritance in at least one canine family and if this holds true we will attempt to map the mutation. One unexpected finding that is not seen in the human epilepsy families is the predominance of males among the affected dogs in several dog breeds. A similar inheritance pattern in human disease has been attributed to paired mutations on the X chromosome and in the mitochondrial DNA in these breeds. Our ultimate goal is to produce a DNA marker that breeders can use to avoid matings that will result in new generations of epileptic dogs.


O’Brien, D. P. (2005). Genetic Mapping of Canine Multiple System Degeneration and Ectodermal Dysplasia Loci. Journal of Heredity, 96(7), 727–734. https://doi.org/10.1093/jhered/esi086

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