OMIA:000344-9031 : Epilepsy in Gallus gallus (chicken) |
In other species: white-tufted-ear marmoset , dog , domestic cat , horse , pig , taurine cattle , rabbit , golden hamster , Mongolian gerbil , prairie vole
Categories: Nervous system phene , Behaviour / neurological phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 104130 (trait) , 117100 (trait) , 121200 (trait) , 121201 (trait) , 125370 (trait) , 132090 (trait) , 132100 (trait) , 132300 (trait) , 159600 (trait) , 182610 (trait) , 203600 (trait) , 208700 (trait) , 220300 (trait) , 226750 (trait) , 226800 (trait) , 226810 (trait) , 226850 (trait) , 254770 (trait) , 254780 (trait) , 254800 (trait) , 266270 (trait) , 267740 (trait) , 270805 (trait) , 301900 (trait) , 310370 (trait) , 545000 (trait) , 600131 (trait) , 600143 (trait) , 600512 (trait) , 600513 (trait) , 600669 (trait) , 601068 (trait) , 245570 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2011
Species-specific name: Fayoumi eplipeptic strain
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| LOC430486 | similar to Ca2+ regulator SV2A | Gallus gallus | 25 | NC_006112.1 (776500..777079) | LOC430486 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 393 | Fayoumi (Chicken) | Epilepsy | LOC430486 | splicing | Naturally occurring variant | 25 | c581-4CC>TG | 2011 | 22046416 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2011). OMIA:000344-9031: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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 | Leroy, G., Besbes, B., Boettcher, P., Hoffmann, I., Capitan, A., Baumung, R. : |
| Rare phenotypes in domestic animals: unique resources for multiple applications. Anim Genet 47:141-53, 2016. Pubmed reference: 26662214. DOI: 10.1111/age.12393. | |
| 2011 | Douaud, M., Feve, K., Pituello, F., Gourichon, D., Boitard, S., Leguern, E., Coquerelle, G., Vieaud, A., Batini, C., Naquet, R., Vignal, A., Tixier-Boichard, M., Pitel, F. : |
| Epilepsy Caused by an Abnormal Alternative Splicing with Dosage Effect of the SV2A Gene in a Chicken Model. PLoS One 6:e26932, 2011. Pubmed reference: 22046416. DOI: 10.1371/journal.pone.0026932. | |
| 2004 | Batini, C., Teillet, MA., Naquet, R. : |
| An avian model of genetic reflex epilepsy. Arch Ital Biol 142:297-312, 2004. Pubmed reference: 15260383. | |
| 1996 | Batini, C., Teillet, M.A., Naquet, R., Ledouarin, N.M. : |
| Brain chimeras in birds - application to the study of a genetic form of reflex epilepsy [Review] Trends in Neurosciences 19:246-252, 1996. Pubmed reference: 8761961. | |
| Gervaisfagnou, D.D., Tuchek, J.M. : | |
| Learning impairment in 1-2-day-old epileptic chicks Epilepsia 37:322-327, 1996. Pubmed reference: 8603635. | |
| Sandirasegarane, L., Mikler, J.R., Tuchek, J.M., Sulakhe, P.V. : | |
| Enhanced forebrain nitric oxide synthase activity in epileptic fowl Brain Research 735:311-313, 1996. Pubmed reference: 8911670. | |
| 1995 | Fadlallah, N., Guy, N., Teillet, MA., Schuler, B., Le Douarin, NM., Naquet, R., Batini, C. : |
| Brain chimeras for the study of an avian model of genetic epilepsy: structures involved in sound and light-induced seizures. Brain Res 675:55-66, 1995. Pubmed reference: 7796153. | |
| Guy, N.T.M., Fadlallah, N., Naquet, R., Batini, C. : | |
| Development of epileptic activity in embryos and newly hatched chicks of the Fayoumi mutant chicken Epilepsia 36:101-107, 1995. Pubmed reference: 8001501. | |
| 1993 | Teillet, M.A., Guy, N.T.M., Schuler, B., Lasalle, G.L.G., Batini, C., Ledouarin, N.M., Naquet, R. : |
| Transfer of a Genetic Form of Epilepsy in the Chicken by Embryonic Brain Grafts Comptes Rendus de L Academie Des Sciences Serie III - Sciences de La Vie - Life Sciences 316:1164-1167, 1993. | |
| Teillet, M.A., Guy, N., Schuler, B., Lasalle, G.L., Batini, C., Ledouarin, N., Naquet, R. : | |
| Transfer of a Genetic Photosensitive Epilepsy by Selective Grafts of Neuroepithelium in the Chick Embryo Comptes Rendus Des Seances de La Societe de Biologie et de Ses Filiales 187:384-389, 1993. Pubmed reference: 8019914. | |
| 1991 | Teillet, M.A., Naquet, R., Lasalle, G.L., Merat, P., Schuler, B., Ledouarin, N.M. : |
| Transfer of Genetic Epilepsy by Embryonic Brain Grafts in the Chicken Proceedings of the National Academy of Sciences of the United States of America 88:6966-6970, 1991. Pubmed reference: 1871111. | |
| 1989 | Tixier-Boichard, M., Molenat, M., Merat, P., Verrier, E. : |
| [The necessity of finding original genotypes in a population] :147-156, 1989. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 04 Nov 2011
- Changed by Frank Nicholas on 09 Dec 2011