OMIA 001596-9615 : Epilepsy, benign familial juvenile in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
LGI2 | leucine-rich repeat LGI family, member 2 | Canis lupus familiaris | 3 | NC_051807.1 (86155381..86187875) | LGI2 | 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.
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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
269 | Lagotto Romagnolo | Epilepsy, benign familial juvenile | LGI2 | nonsense (stop-gain) | Naturally occurring variant | CanFam3.1 | 3 | g.85210442A>T | c.1558A>T | p.(K520*) | XM_022416405.1; XP_022272113.1; published as c.1552A>T & p.(K518*); coordinates in the table have been updated to a recent reference genome and / or transcript | 2011 | 21829378 |
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., Maestro Saiz, 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. | ||
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. |
Edit History
- Created by Frank Nicholas on 12 Aug 2011
- Changed by Frank Nicholas on 12 Aug 2011
- Changed by Frank Nicholas on 29 Aug 2011
- Changed by Frank Nicholas on 07 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 22 May 2013