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

Author:

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 ElisabethORCID,Leeb Tosso,Matiasek Kaspar,Fischer Andrea,Lohi Hannes

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 neuronalDIRAS1gene 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.

Funder

Munich University Society

Nachlass Dr. Karl Heinz Kurtze

American Kennel Club Canine Health Foundation

Suomen Akatemia

Sigrid Juselius Foundation

Jane ja Aatos Erkon Säätiö

EC | European Research Council

Epilepsiatutkimussäätiö

ERANET Neuron

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

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