Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.
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ABSTRACT:
SUBMITTER: Wielaender F
PROVIDER: S-EPMC5347561 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Publications
Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.
Wielaender Franziska F Sarviaho Riika R James Fiona F Hytönen Marjo K MK Cortez Miguel A MA Kluger Gerhard G Koskinen Lotta L E LL Arumilli Meharji M Kornberg Marion M Bathen-Noethen Andrea A Tipold Andrea A Rentmeister Kai K Bhatti Sofie F M SF Hülsmeyer Velia V Boettcher Irene C IC Tästensen Carina C Flegel Thomas T Dietschi Elisabeth E Leeb Tosso T Matiasek Kaspar K Fischer Andrea A Lohi Hannes H
Proceedings of the National Academy of Sciences of the United States of America 20170221 10
The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified in the DIRAS family GTPase 1 (<i>DIRAS1</i>) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal <i>DIRAS1</i> gene with a proposed role in cholinergic transmission provides not only a candidate for human myocl ...[more]
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