/ 0

Store

Generalised Myoclonic Epilepsy (Rhodesian Ridgeback Type)

$50

(ONLINE PRICE)

ADD TO CART

Test Overview:

Because it is autosomal recessive, carriers are asymptomatic but can pass the mutation on. If two carriers are bred, each pup has a 25% chance of being affected, 50% chance of being a carrier, and 25% chance of being clear. Genetic testing is available and recommended to identify carriers and affected dogs to avoid affected puppies. Breeders should use testing to make informed mating decisions while balancing breed diversity

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

DIRAS family GTPase 1 (DIRAS1) on Chromosome 20

Variant Detected:

Nucleotide Deletion c.564-567delAGAC p.frameshift

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the DIRAS1 gene will reliably determine if a dog is a genetic carrier of Generalised Myoclonic Epilepsy (Rhodesian Ridgeback type).

Research Citation(s):

Wielaender, F. Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1. (2017), Proc Natl Acad Sci, 114(10);2669–2674.

Associated Breed(s):

Mixed Breed, Rhodesian Ridgeback ,

##parent-placeholder-19bd1503d9bad449304cc6b4e977b74bac6cc771##