The detail information of Epilepsy, generalized myoclonic, with photosensitivity
OMIA Basic Information
Possible human homologues (MIM numbers): -
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2017
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB204 | Rhodesian Ridgeback | 63.5-68.6 cm (male), 61-66 cm (female) | 38.6 kg (male), 31.8 kg (female) | Zimbabwe |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| DIRAS1 | DIRAS family, GTP-binding RAS-like 1 | Canis lupus familiaris | Chr20 : 57202556 - 57210586 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2018 |
Wielaender,F.,James,F.M.K.,Cortez,M.A.,Kluger,G.,Neßler,J.N.,Tipold,A.,Lohi,H.,Fischer,A.: :
Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs. J Vet Intern Med 32:428-432, 2018. Pubmed reference: 29194766 . DOI: 10.1111/jvim.14892 . |
| 2017 |
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 114:2669-2674, 2017. Pubmed reference: 28223533 . DOI: 10.1073/pnas.1614478114 . |