| Literature DB >> 28223533 |
Franziska Wielaender1, Riika Sarviaho2,3,4, Fiona James5, Marjo K Hytönen2,3,4, Miguel A Cortez6,7, Gerhard Kluger8,9, Lotta L E Koskinen2,3,4, Meharji Arumilli2,3,4, Marion Kornberg10, Andrea Bathen-Noethen11, Andrea Tipold12, Kai Rentmeister13, Sofie F M Bhatti14, Velia Hülsmeyer1, Irene C Boettcher15, Carina Tästensen15, Thomas Flegel15, Elisabeth Dietschi16, Tosso Leeb16, Kaspar Matiasek17, Andrea Fischer18, Hannes Lohi19,3,4.
Abstract
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 (DIRAS1) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization.Entities:
Keywords: Ras; canine; juvenile; photosensitivity; seizure
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Year: 2017 PMID： 28223533 PMCID： PMC5347561 DOI： 10.1073/pnas.1614478114
Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205