OMIA 000344-9031 : Epilepsy in Gallus gallus

In other species: cattle , dog , rabbit , domestic cat , Mongolian gerbil , horse , golden hamster

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 104130 , 117100 , 121200 , 121201 , 125370 , 132090 , 132100 , 132300 , 159600 , 182610 , 203600 , 208700 , 220300 , 226750 , 226800 , 226810 , 226850 , 254770 , 254780 , 254800 , 266270 , 267740 , 270805 , 301900 , 310370 , 545000 , 600131 , 600143 , 600512 , 600513 , 600669 , 601068 , 245570

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Fayoumi eplipeptic strain Epilepsy LOC430486 splicing c581-4CC>TG 2011 22046416

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