Article
Expanded repeat in canine epilepsy.
Science (New York, N.Y.) - 7 Jan 2005
Lohi Hannes, Young Edwin J, Fitzmaurice Susan N, Rusbridge Clare, Chan Elayne M, Vervoort Mike, Turnbull Julie, Zhao Xiao-Chu, Ianzano Leonarda, Paterson Andrew D, Sutter Nathan B, Ostrander Elaine A, André Catherine, Shelton G Diane, Ackerley Cameron A, Scherer Stephen W, Minassian Berge A
Abstract excerpt
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...
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