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Epilepsy, Generalized Myoclonic, with Photosensitivity

Breeds

Relevance Rating: There is moderate evidence or research available in this breed

General

Disease Name
Epilepsy, Generalized Myoclonic, with Photosensitivity
Mutation
c.564_567delAGAC
Test Type
Genetic Disease/Disorder
Details
Epilepsy, Generalized Myoclonic, with Photosensitivity is a form of epilepsy causing frequent jerks/twitches, and photosensitivity, without warning changes in behaviour. Most incidents were reported when the dog was relaxing, drowsy, or falling asleep - but also occassionally when sitting, standing or walking. The disease progressed to generalized seizures in some dogs after onset of jerky/twitchy seizures. Intensity varies between events and individual dogs. Age of onset ranges between 6 weeks to 18 months. Owners reported daily or almost daily fits, sometimes many (up to 150 twitches) per day.
Details 2
(Disease is described as:) a unique epilepsy phenotype of frequent myoclonic jerks/twitches, with an onset in young dogs...range 6 wk?18 mo)...Photosensitivity was reported... (in some dogs) The disease progressed to generalized tonic-clonic seizures (GTCS) in 38% of dogs within 6 mo (median; 1.5?29 mo) after onset of myoclonic seizures. Owners of three dogs (>8 y of age) reported that dogs retained normal cognition throughout life. Myoclonic jerks were described by the owners as severe startling or even resembling an electric shock. Preceding alterations in behavior were not observed. Myoclonic twitches mainly occurred when the animals were in a recumbent position and relaxed, drowsy, or in the first stages of sleep, and with the eyes either closed or open. Occasionally twitches occurred also when the dogs were sitting, standing, or walking... Intensity varied between events and individual dogs. Dogs were normal between events. Owners reported daily (87%) or almost daily (13%; every second to third day) occurrence of myoclonic twitches with a frequency of up to 150 twitches per day. (Wielaender et al, 2017)
Published
Wielaender, F., Sarviaho, R., James, F., Hytönen, M.K., Cortez, M.A., Kluger, G., Koskinen, L.L., Arumilli, M., Kornberg, M., Bathen-Noethen, A., Tipold, A., Rentmeister, K., Bhatti, S.F., Hülsmeyer, V., Boettcher, I.C., Tästensen, C., Flegel, T., Dietschi, E., Leeb, T., Matiasek, K., Fischer, A., Lohi, H. : Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1. Proc Natl Acad Sci U S A :, 2017. Pubmed reference: 28223533. DOI: 10.1073/pnas.1614478114.
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