Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.
Franziska WielaenderRiika SarviahoFiona JamesMarjo K HytönenMiguel A CortezGerhard KlugerLotta L E KoskinenMeharji ArumilliMarion KornbergAndrea Bathen-NoethenAndrea TipoldKai RentmeisterSofie F M BhattiVelia HülsmeyerIrene C BoettcherCarina TästensenThomas FlegelElisabeth DietschiTosso LeebKaspar MatiasekAndrea FischerHannes LohiPublished in: Proceedings of the National Academy of Sciences of the United States of America (2017)
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.