The detail information of Epilepsy, benign familial juvenile
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: 2011
Species-specific name: Benign Familial Juvenile Epilepsy; also known as remitting focal epilepsy
Species-specific symbol: BFJE
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB148 | Lagotto Romagnolo(Romagna Water Dog) | 43.2-48.3 cm (male), 40.6-45.7 cm (female) | 12.9-15.9 kg (male), 10.9-14.1 kg (female) | Italy |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| LGI2 | leucine-rich repeat LGI family, member 2 | Canis lupus familiaris | Chr3 : 86155381 - 86187875 | 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.
| 2016 |
Uriarte,A.,MaestroSaiz,I.: :
Canine versus human epilepsy: are we up to date? J Small Anim Pract 57:115-21, 2016. Pubmed reference: 26931499 . DOI: 10.1111/jsap.12437 . |
| 2013 |
Bellumori,T.P.,Famula,T.R.,Bannasch,D.L.,Belanger,J.M.,Oberbauer,A.M.: :
Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc 242:1549-55, 2013. Pubmed reference: 23683021 . DOI: 10.2460/javma.242.11.1549 . |
| 2013 |
Ekenstedt,K.J.,Oberbauer,A.M.: :
Inherited epilepsy in dogs. Top Companion Anim Med 28:51-8, 2013. Pubmed reference: 24070682 . DOI: 10.1053/j.tcam.2013.07.001 . |
| 2011 |
Seppälä,E.H.,Jokinen,T.S.,Fukata,M.,Fukata,Y.,Webster,M.T.,Karlsson,E.K.,Kilpinen,S.K.,Steffen,F.,Dietschi,E.,Leeb,T.,Eklund,R.,Zhao,X.,Rilstone,J.J.,Lindblad-Toh,K.,Minassian,B.A.,Lohi,H.: :
LGI2 truncation causes a remitting focal epilepsy in dogs. PLoS Genet 7:e1002194, 2011. Pubmed reference: 21829378 . DOI: 10.1371/journal.pgen.1002194 . |
| 2007 |
Jokinen,T.S.,Metsähonkala,L.,Bergamasco,L.,Viitmaa,R.,Syrjä,P.,Lohi,H.,Snellman,M.,Jeserevics,J.,Cizinauskas,S.: :
Benign familial juvenile epilepsy in Lagotto Romagnolo dogs. J Vet Intern Med 21:464-71, 2007. Pubmed reference: 17552452 . |