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Benign Familial Juvenile Epilepsy

Benign Familial Juvenile Epilepsy (BFJE) is a genetic condition in Lagotto Romagnolo dogs, characterized by transient seizures starting in puppyhood and resolving by four months of age.

Affected Genes: LGI2

Inheritance: Autosomal Recessive

Variant(canFam6):
chr3:87721883: A>T

Breed: Lagotto Romagnolo

General Information: Benign Familial Juvenile Epilepsy (BFJE) predominantly affects Lagotto Romagnolo puppies, with onset of symptoms typically occurring between five to nine weeks of age. The main symptom of BFJE is the occurrence of seizures that are generally mild and cease by the time the dog reaches approximately four months old. In some cases, affected puppies might also experience ataxia, or lack of muscle coordination. Despite the frightening nature of seizures, this condition is considered benign as the seizures spontaneously resolve with age and do not lead to long-term health issues. However, there have been instances of adult-onset seizures reported within the breed, suggesting variability in the expression of the condition.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Benign Familial Juvenile Epilepsy (BFJE) focuses on the LGI2 gene, which has been identified as a variant for this condition in Lagotto Romagnolo dogs. This autosomal recessive disorder requires two copies of the mutated gene for a dog to be affected. Carrier dogs typically do not show symptoms, but breeding two carriers can produce affected pups, with each pup having a 25% chance of developing the disease. Genetic testing is essential for informed breeding practices to prevent the mutation. Breeding of two carrier dogs is not recommended.Non-carrier dogs have no increased risk of producing affected pups from this known variant.

References:
Jokinen TS, 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. 2007 21(3):464-471.

Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen SK, Steffen F, Dietschi E, Leeb T, Eklund R, Zhao X, Rilstone JJ, Lindblad-Toh K, Minassian BA, Lohi H. LGI2 truncation causes a remitting focal epilepsy in dogs. PLoS Genet. 2011 7(7):e1002194.