Disease overview

Benign familial juvenile epilepsy (BFJE), also known as Remitting Focal Epilepsy, is an early-onset inherited neurological disease. It affects Lagotto Romagnolo dogs due to a mutation in the LGI2 gene. Clinical signs of BFJE typically occur early in puppies between five to nine weeks of age and are characterized by seizures that usually resolve by approximately four months of age, though some adult cases of BFJE have been observed within the breed.

Gene name

LGI2

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs of BFJE typically occur early in puppies between five to nine weeks of age and are characterized by seizures that usually resolve by approximately four months of age, though some adult cases of BFJE have been observed within the breed. Severely affected dogs may develop uncoordinated gait, in addition to seizures. Seizures often involve the front half of the body during a relaxed or drowsy state. Affected dogs may appear confused or scared following an episode, and can appear normal between episodes.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Neurological tests, including imaging, may be required for a definitive diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

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 Jul;7(7):e1002194. doi: 10.1371/journal.pgen.1002194. Epub 2011 Jul 28. PMID: 21829378; PMCID: PMC3145619.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.