Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

21 Feb 2017

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Epilepsy research and treatment
Share to Genetics and Neurodevelopmental Disorders
Share to Glycogen Storage Diseases and Myoclonus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 28223533
DOI: 10.1073/pnas.1614478114

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1PMID 28223533Read ↗

Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs.Semantic proximity Read ↗

The use of canine models of inherited retinal degeneration to test novel therapeutic approaches.Semantic proximity Read ↗

International Veterinary Epilepsy Task Force's current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs.Semantic proximity Read ↗

Inherited epilepsy in dogs.Semantic proximity Read ↗

Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci.Semantic proximity Read ↗

A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal AtrophySemantic proximity Read ↗

Risk loci for idiopathic epilepsy in Belgian Shepherd dogs.Semantic proximity Read ↗

Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration.Semantic proximity Read ↗

CHD2 variants are a risk factor for photosensitivity in epilepsy.Semantic proximity Read ↗

RPGRIP1 and cone-rod dystrophy in dogs.Semantic proximity Read ↗

LGI2 truncation causes a remitting focal epilepsy in dogs.Semantic proximity Read ↗

Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.