Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1
作者： Franziska Wielaender , Riika Sarviaho , Fiona James , Marjo K. Hytönen , Miguel A. Cortez
关键词: Photosensitivity 、 Gene 、 Endocrinology 、 Cholinergic 、 Biology 、 Juvenile 、 Myoclonic epilepsy 、 DIRAS family GTPase 1 、 Disease etiology 、 Internal medicine 、 Intervention studies
摘要: The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified the DIRAS family GTPase 1 (DIRAS1) gene an altered expression pattern DIRAS1 protein affected brain. This neuronal proposed role cholinergic transmission provides not only candidate for human but also insights into disease etiology, while establishing spontaneous model future intervention studies functional characterization.
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