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BreviaExpanded Repeat in Canine Epilepsy![]()
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.
1 The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
2 Wey Referrals, Woking, Surrey GU21 5BP, UK. 3 Stone Lion Veterinary Centre, Wimbledon, London SW19 5AU, UK. 4 Fred Hutchinson Cancer Research Center, Seattle, WA 981091024, USA. 5 CNRS Génétique et Développement, 35043 Rennes, France. 6 University of California, San Diego, CA 92093, USA.
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Science. ISSN 0036-8075 (print), 1095-9203 (online)