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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{dagger}

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.

{dagger} To whom correspondence should be addressed. E-mail: bminass{at}sickkids.ca

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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Large-Scale SNP Genotyping with Canine Buccal Swab DNA.
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An Extended Microsatellite Set for Linkage Mapping in the Domestic Dog.
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J. Hered. 98, 221-231
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The canine genome.
E. A. Ostrander and R. K. Wayne (2005)
Genome Res. 15, 1706-1716
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Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.
H. Lohi, L. Ianzano, X.-C. Zhao, E. M. Chan, J. Turnbull, S. W. Scherer, C. A. Ackerley, and B. A. Minassian (2005)
Hum. Mol. Genet. 14, 2727-2736
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Sacred disease secrets revealed: the genetics of human epilepsy.
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The mei-P26 Gene Encodes a RING Finger B-box Coiled-Coil-NHL Protein That Regulates Seizure Susceptibility in Drosophilia.
E. Glasscock, A. Singhania, and M. A. Tanouye (2005)
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EDITOR'S CHOICE 42(3).
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Vet. Pathol. 42, 400-401
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Science. ISSN 0036-8075 (print), 1095-9203 (online)