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Canine epilepsy research

Denise Wall

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This is not involving border collies specifically but it's an encouraging breakthrough for canines in general. Hopefully the mutant genes are the same in all breeds:


Science, Vol 307, Issue 5706, 81 , 7 January 2005

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 Andr?,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 G?n?tique et D?veloppement, 35043 Rennes, France.

6 University of California, San Diego, CA 92093, USA.



* These authors contributed equally to this work.

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Very cool. Thanks for pointing out the article Denise.


It's an odd gene and a cool mutation. It will be interesting to see if they can come up with a hypothesis about whether the insertion of those amino acids confers a selective advantage in canids.


Pity the poor grad student who had to get the PCR and sequencing to work on that DNA (DNA with lots of G and C and not much A or T is hard to work with and the presence of repeats makes it miserable).

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Yes it is hard to get the GC rich DNA to sequence clearly. Back in the day when I was PCRing and sequencing those regions were especially challenging. Of course that is when you taped your own plates and poured your own gels and used phosphate or sulfur as the isotope for autoradiography. Cool.


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