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Wieländer, Franziska; Sarviaho, Riika; James, Fiona; Hytoenen, Marjo; Cortez, Miguel; Kluger, Gerhard; Koskinen, Lotta; Arumilli, Meharji; Kornberg, Marion; Bathen-Nöthen, Andrea; Tipold, Andrea; Rentmeister, Kai; Bhatti, Sofie; Hülsmeyer, Velia; Böttcher, Irene C.; Tästensen, Carina; Flegel, Thomas; Dietschi, Elisabeth; Leeb, Tosso; Matiasek, Kaspar; Fischer, Andrea; Lohi, Hannes (2017): Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1. In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 114, No. 10: pp. 2669-2674
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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.