title: Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.
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.
authors.affiliation: Clinic of Small Animal Medicine, Centre for Clinical Veterinary Medicine, Ludwig-Maximilians-Universität München (LMU Munich), D-80539 Munich, Germany.
authors.forename: Franziska
authors.initials: F
authors.lastname: Wielaender
authors.affiliation: Research Programs Unit, Molecular Neurology, University of Helsinki, 00014 Helsinki, Finland.|Department of Veterinary Biosciences, University of Helsinki, 00014 Helsinki, Finland.|Folkhälsan Research Center, 00290 Helsinki, Finland.
authors.forename: Riika
authors.initials: R
authors.lastname: Sarviaho
authors.affiliation: Department of Clinical Studies, Ontario Veterinary College, University of Guelph, ON, Canada N1G 2W1.
authors.forename: Fiona
authors.initials: F
authors.lastname: James
authors.affiliation: Research Programs Unit, Molecular Neurology, University of Helsinki, 00014 Helsinki, Finland.|Department of Veterinary Biosciences, University of Helsinki, 00014 Helsinki, Finland.|Folkhälsan Research Center, 00290 Helsinki, Finland.
authors.forename: Marjo K
authors.initials: MK
authors.lastname: Hytönen
authors.affiliation: Department of Pediatrics, University of Toronto, Toronto, ON, Canada ON M5S.|Neurosciences & Mental Health Program, Peter Gilgan Centre for Research and Learning, SickKids Research Institute, Toronto, ON, Canada M5G 0A4.
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Cortez
authors.affiliation: Department of Neuropediatrics, Epilepsy Center, Schön Klinik, D-83569 Vogtareuth, Germany.|Paracelsus Medical University, 5020 Salzburg, Austria.
authors.forename: Gerhard
authors.initials: G
authors.lastname: Kluger
authors.affiliation: Research Programs Unit, Molecular Neurology, University of Helsinki, 00014 Helsinki, Finland.|Department of Veterinary Biosciences, University of Helsinki, 00014 Helsinki, Finland.|Folkhälsan Research Center, 00290 Helsinki, Finland.
authors.forename: Lotta L E
authors.initials: LL
authors.lastname: Koskinen
authors.affiliation: Research Programs Unit, Molecular Neurology, University of Helsinki, 00014 Helsinki, Finland.|Department of Veterinary Biosciences, University of Helsinki, 00014 Helsinki, Finland.|Folkhälsan Research Center, 00290 Helsinki, Finland.
authors.forename: Meharji
authors.initials: M
authors.lastname: Arumilli
authors.affiliation: Veterinary Hospital Trier, 54294 Trier, Germany.
authors.forename: Marion
authors.initials: M
authors.lastname: Kornberg
authors.affiliation: Veterinary Practice Bathen-Noethen, 51069 Cologne, Germany.
authors.forename: Andrea
authors.initials: A
authors.lastname: Bathen-Noethen
authors.affiliation: Department of Small Animal Medicine and Surgery, University of Veterinary Medicine, 30559 Hannover, Germany.
authors.forename: Andrea
authors.initials: A
authors.lastname: Tipold
authors.affiliation: Tierärztliche Praxis für Neurologie, 97337 Dettelbach, Germany.
authors.forename: Kai
authors.initials: K
authors.lastname: Rentmeister
authors.affiliation: Department of Medicine and Clinical Biology of Small Animals, Ghent University, 9000 Ghent, Belgium.
authors.forename: Sofie F M
authors.initials: SF
authors.lastname: Bhatti
authors.affiliation: Clinic of Small Animal Medicine, Centre for Clinical Veterinary Medicine, Ludwig-Maximilians-Universität München (LMU Munich), D-80539 Munich, Germany.
authors.forename: Velia
authors.initials: V
authors.lastname: Hülsmeyer
authors.affiliation: Department of Small Animal Medicine, University of Leipzig, 04103 Leipzig, Germany.
authors.forename: Irene C
authors.initials: IC
authors.lastname: Boettcher
authors.affiliation: Department of Small Animal Medicine, University of Leipzig, 04103 Leipzig, Germany.
authors.forename: Carina
authors.initials: C
authors.lastname: Tästensen
authors.affiliation: Department of Small Animal Medicine, University of Leipzig, 04103 Leipzig, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Flegel
authors.affiliation: Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.
authors.forename: Elisabeth
authors.identifier: 0000-0002-3181-6083
authors.initials: E
authors.lastname: Dietschi
authors.affiliation: Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.
authors.forename: Tosso
authors.initials: T
authors.lastname: Leeb
authors.affiliation: Section of Clinical & Comparative Neuropathology, Centre for Clinical Veterinary Medicine, Ludwig-Maximilians-Universität München (LMU Munich) D-80539 Munich, Germany.
authors.forename: Kaspar
authors.initials: K
authors.lastname: Matiasek
authors.affiliation: 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.
authors.forename: Andrea
authors.initials: A
authors.lastname: Fischer
authors.affiliation: Research Programs Unit, Molecular Neurology, University of Helsinki, 00014 Helsinki, Finland; andreafischer@lmu.de hannes.lohi@helsinki.fi.|Department of Veterinary Biosciences, University of Helsinki, 00014 Helsinki, Finland.|Folkhälsan Research Center, 00290 Helsinki, Finland.
authors.forename: Hannes
authors.initials: H
authors.lastname: Lohi
mesh_terms: D000818:Animals; D001921:Brain / Q000378:metabolism / Q000503:physiopathology; D004195:Disease Models, Animal; D004285:Dogs; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000473:pathology; D020558:GTP Phosphohydrolases / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D010787:Photosensitivity Disorders / Q000235:genetics* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C468772:DIRAS1 protein, human; D020558:GTP Phosphohydrolases
keywords: Ras; canine; juvenile; photosensitivity; seizure