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Benign Familial Juvenile Epilepsy

Benign Familial Juvenile Epilepsy (BFJE) is a neurological disorder causing epileptic seizures.

Key Signs

Seizures with whole body tremors, Ataxia (uncoordinated movements), Stiffness, Potentially altered consciousness; may show generalized ataxia between seizures

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

Moderate-high likelihood

At risk dogs are likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with BFJE

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about BFJE

Onset of epileptic seizures in BFJE is between 5 to 9 weeks of age. The seizures consist of whole-body tremors, ataxia (uncoordinated movements), and stiffness. Some affected puppies are able to stand and/or walk during a seizure while others are recumbent and unable to stand. The epileptic signs can sometimes be associated with alterations of consciousness. Frequency of seizures can vary between individuals: there can be several seizures a day or sporadic seizures a few times a week. Usually an affected puppy seems completely normal between the seizures. However, in severe cases there can be neurological signs, such as generalized ataxia between the seizures. The BFJE form of epilepsy is relatively benign since the seizures typically end by 4 months of age.

For affected dogs clinical sign progression should be carefully monitored, ensuring the puppy is safe during any seizures and has any required support. Some affected puppies have been treated with anti-epileptic medication like phenobarbital on a short term basis until they are more than 4 months of age. In medium term follow-up, the majority of affected dogs did not suffer any additional seizures as adults.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to develop. However dogs with one copy of the disease mutation have been reported as having a slightly increased chance of developing this disease. Breeding a carrier dog with one copy of the BFJE mutation with a clear dog with no copies of the BFJE mutation, will produce a litter with around half carrier puppies and half clear puppies. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the BFJE mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene LGI2
Variant A>T
Chromosome 3
Coordinate 85,210,442

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Seppälä, E. H., Jokinen, T. S., Fukata, M., Fukata, Y., Webster, M. T., Karlsson, E. K., … Lohi, H. (2011). Lgi2 truncation causes a remitting focal epilepsy in dogs. PLoS Genetics, 7(7). View the article

Jokinen, P., Rusanen, E. M., Kennedy, L. J., & Lohi, H. (2011). MHC class II risk haplotype associated with Canine chronic superficial keratitis in German Shepherd dogs. Veterinary Immunology and Immunopathology, 140(1–2), 37–41. View the article