Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

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 und 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, Bd. 114, Nr. 10: S. 2669-2674

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.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Tiermedizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0027-8424
• Sprache: Englisch