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Science 7 January 2005:
Vol. 307. no. 5706, p. 81
DOI: 10.1126/science.1102832
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Brevia
Expanded Repeat in Canine Epilepsy
Hannes Lohi,1*
Edwin J. Young,1*
Susan N. Fitzmaurice,2
Clare Rusbridge,3
Elayne M. Chan,1
Mike Vervoort,1
Julie Turnbull,1
Xiao-Chu Zhao,1
Leonarda Ianzano,1
Andrew D. Paterson,1
Nathan B. Sutter,4
Elaine A. Ostrander,4
Catherine André,5
G. Diane Shelton,6
Cameron A. Ackerley,1
Stephen W. Scherer,1
Berge A. Minassian1
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 98109–1024, USA.
5 CNRS Génétique et Développement, 35043 Rennes, France.
6 University of California, San Diego, CA 92093, USA.
* These authors contributed equally to this work.
 To whom correspondence should be addressed. E-mail: bminass{at}sickkids.ca
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