NDLI: Canine epilepsy genetics

Content Provider	Springer Nature Link
Author	Ekenstedt, Kari J. Patterson, Edward E. Mickelson, James R.
Copyright Year	2011
Abstract	There has been much interest in utilizing the dog as a genetic model for common human diseases. Both dogs and humans suffer from naturally occurring epilepsies that share many clinical characteristics. Investigations of inherited human epilepsies have led to the discovery of several mutated genes involved in this disease; however, the vast majority of human epilepsies remain unexplained. Mouse models of epilepsy exist, including single-gene spontaneous and knockout models, but, similar to humans, other, polygenic models have been more difficult to discern. This appears to also be the case in canine epilepsy genetics. There are two forms of canine epilepsies for which gene mutations have been described to date: the progressive myoclonic epilepsies (PMEs) and idiopathic epilepsy (IE). Gene discovery in the PMEs has been more successful, with eight known genes; six of these are orthologous to corresponding human disorders, while two are novel genes that can now be used as candidates for human studies. Only one IE gene has been described in dogs, an LGI2 mutation in Lagotto Romagnolos with a focal, juvenile remitting epilepsy. This gene is also a novel candidate for human remitting childhood epilepsy studies. The majority of studies of dog breeds with IE, however, have either failed to identify any genes or loci of interest, or, as in complex mouse and human IEs, have identified multiple QTLs. There is still tremendous promise in the ongoing canine epilepsy studies, but if canine IEs prove to be as genetically complex as human and murine IEs, then deciphering the bases of these canine epilepsies will continue to be challenging.
Starting Page	28
Ending Page	39
Page Count	12
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	23
Issue Number	1-2
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	2011-10-30
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Zoology Cell Biology Anatomy
Content Type	Text
Resource Type	Article
Subject	Genetics

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Genetics of canine olfaction and receptor diversity

Empowering international canine inherited disorder management

MicroRNA expression in canine mammary cancer

Assignation of highly polymorphic markers on a canine purebred pedigree

Variability of canine microsatellites within and between different dog breeds

Canine models of copper toxicosis for understanding mammalian copper metabolism

COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia

Exon 15 BRAF mutations are uncommon in canine oral malignant melanomas

Mutation identification in a canine model of X-linked ectodermal dysplasia

Canine epilepsy genetics

Similar Documents

Genetics of canine olfaction and receptor diversity

Empowering international canine inherited disorder management

MicroRNA expression in canine mammary cancer

Assignation of highly polymorphic markers on a canine purebred pedigree

Variability of canine microsatellites within and between different dog breeds

Canine models of copper toxicosis for understanding mammalian copper metabolism

COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia

Exon 15 BRAF mutations are uncommon in canine oral malignant melanomas

Mutation identification in a canine model of X-linked ectodermal dysplasia

Canine epilepsy genetics