Wielaender Franziska, Sarviaho Riika, James Fiona, Hytönen Marjo K, Cortez Miguel A, Kluger Gerhard, Koskinen Lotta L E, Arumilli Meharji, Kornberg Marion, Bathen-Noethen Andrea, Tipold Andrea, Rentmeister Kai, Bhatti Sofie F M, Hülsmeyer Velia, Boettcher Irene C, Tästensen Carina, Flegel Thomas, Dietschi Elisabeth, Leeb Tosso, Matiasek Kaspar, Fischer Andrea, Lohi Hannes
Clinic of Small Animal Medicine, Centre for Clinical Veterinary Medicine, Ludwig-Maximilians-Universität München (LMU Munich), D-80539 Munich, Germany.
Research Programs Unit, Molecular Neurology, University of Helsinki, 00014 Helsinki, Finland.
Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):2669-2674. doi: 10.1073/pnas.1614478114. Epub 2017 Feb 21.
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 () gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal 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.
描述了一种发生于年轻的罗德西亚脊背犬（6周龄至18月龄）的具有光敏感性的犬全身性肌阵挛性癫痫的临床和脑电图特征。在DIRAS家族GTP酶1（DIRAS1）基因中鉴定出一个完全显性的4碱基缺失，且受影响大脑中DIRAS1蛋白的表达模式发生改变。这个在胆碱能传递中起作用的神经元基因不仅为人类肌阵挛性癫痫提供了一个候选基因，还为疾病病因学提供了见解，同时建立了一个用于未来干预研究和功能特征分析的自发模型。
