Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Abstract

Significance Comprehensive clinical, neurological, and genetic examinations characterized a generalized myoclonic epilepsy syndrome with photosensitivity in young Rhodesian Ridgeback dogs. The average age of onset of seizures was 6 mo. Genetic analyses revealed a defective DIRAS family GTPase 1 ( DIRAS1 ) gene and protein. DIRAS1 is widely expressed in the brain and has been suggested to regulate acetylcholine release and play a role in neurodevelopment. This study reveals a candidate gene for human myoclonic epilepsies, and a translational model to further elucidate the role of DIRAS1 in neurotransmission and neurodevelopment, and its modulation as a therapeutic option in common epilepsy.