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.
Funder
Munich University Society
Nachlass Dr. Karl Heinz Kurtze
American Kennel Club Canine Health Foundation
Suomen Akatemia
Sigrid Juselius Foundation
Jane ja Aatos Erkon Säätiö
EC | European Research Council
Epilepsiatutkimussäätiö
ERANET Neuron
Publisher
Proceedings of the National Academy of Sciences
Cited by
40 articles.
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