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Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):2669-2674. doi: 10.1073/pnas.1614478114. Epub 2017 Feb 21.

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

Author information

1
Clinic of Small Animal Medicine, Centre for Clinical Veterinary Medicine, Ludwig-Maximilians-Universität München (LMU Munich), D-80539 Munich, Germany.
2
Research Programs Unit, Molecular Neurology, University of Helsinki, 00014 Helsinki, Finland.
3
Department of Veterinary Biosciences, University of Helsinki, 00014 Helsinki, Finland.
4
Folkhälsan Research Center, 00290 Helsinki, Finland.
5
Department of Clinical Studies, Ontario Veterinary College, University of Guelph, ON, Canada N1G 2W1.
6
Department of Pediatrics, University of Toronto, Toronto, ON, Canada ON M5S.
7
Neurosciences & Mental Health Program, Peter Gilgan Centre for Research and Learning, SickKids Research Institute, Toronto, ON, Canada M5G 0A4.
8
Department of Neuropediatrics, Epilepsy Center, Schön Klinik, D-83569 Vogtareuth, Germany.
9
Paracelsus Medical University, 5020 Salzburg, Austria.
10
Veterinary Hospital Trier, 54294 Trier, Germany.
11
Veterinary Practice Bathen-Noethen, 51069 Cologne, Germany.
12
Department of Small Animal Medicine and Surgery, University of Veterinary Medicine, 30559 Hannover, Germany.
13
Tierärztliche Praxis für Neurologie, 97337 Dettelbach, Germany.
14
Department of Medicine and Clinical Biology of Small Animals, Ghent University, 9000 Ghent, Belgium.
15
Department of Small Animal Medicine, University of Leipzig, 04103 Leipzig, Germany.
16
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.
17
Section of Clinical & Comparative Neuropathology, Centre for Clinical Veterinary Medicine, Ludwig-Maximilians-Universität München (LMU Munich) D-80539 Munich, Germany.
18
Clinic of Small Animal Medicine, Centre for Clinical Veterinary Medicine, Ludwig-Maximilians-Universität München (LMU Munich), D-80539 Munich, Germany; andreafischer@lmu.de hannes.lohi@helsinki.fi.
19
Research Programs Unit, Molecular Neurology, University of Helsinki, 00014 Helsinki, Finland; andreafischer@lmu.de hannes.lohi@helsinki.fi.

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.

KEYWORDS:

Ras; canine; juvenile; photosensitivity; seizure

PMID:
28223533
PMCID:
PMC5347561
DOI:
10.1073/pnas.1614478114
[Indexed for MEDLINE]
Free PMC Article

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