Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.
basic_science · Level V
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- Record sourced from PubMed, PMID 28223533.
- Also identified by DOI 10.1073/pnas.1614478114 and PMC identifier 5347561.
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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 (<i>DIRAS1</i>) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal <i>DIRAS1</i> 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.
Medical subject headings
- Epilepsies, Myoclonic
- GTP Phosphohydrolases
- Gene Deletion
- Photosensitivity Disorders
- Tumor Suppressor Proteins