Peer-reviewed veterinary case report
Genetic repeat expansion causes fatal epilepsy in dogs
By Lohi, Hannes et al.·Published in Science (New York, N.Y.)·2005·The Hospital for Sick Children, Canada·View original on PubMed →
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Original publication title: Expanded repeat in canine epilepsy.
- Species:
- dog
Plain-English summary
Epilepsy is a condition that affects about 5% of dogs, and researchers have found a specific genetic mutation in dogs that causes a severe form of this disease. This mutation involves a part of the Epm2b gene that can expand in size, leading to fatal epilepsy in affected dogs. The study suggests that this genetic change has been happening for millions of years in dog evolution. A new genetic test has been developed to help identify dogs that carry this mutation, which could help in diagnosing and potentially eradicating the disease. Overall, the findings highlight a serious health issue in dogs and offer a way to better understand and manage it.
Abstract
Epilepsy afflicts 1% of humans and 5% of dogs. We report a canine epilepsy mutation and evidence for the existence of repeat-expansion disease outside humans. A canid-specific unstable dodecamer repeat in the Epm2b (Nhlrc1) gene recurrently expands, causing a fatal epilepsy and contributing to the high incidence of canine epilepsy. Tracing the repeat origins revealed two successive events, starting 50 million years ago, unique to canid evolution. A genetic test, presented here, will allow carrier and presymptomatic diagnosis and disease eradication. Clinicopathologic characterization establishes affected animals as a model for Lafora disease, the most severe teenage-onset human epilepsy.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/15637270/