Benign Familial Juvenile Epilepsy

(BFJE, Lagotto Romagnolo)

 

Gene:  LGI2

Transmission: Autosomal dominant (incomplete penetrance)

For an autosomal dominant genetic disease, an animal must have at least one copy of the mutation in question to be at risk of developing the disease.  Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy of the mutation.  One or both of the parents of an animal with the mutation has one or two copies of the mutation.  Animals that have one or two copies of the mutation can pass the mutation on to future generations.

Mutation: Substitution, LGI2 gene; c.1552 A>T, p.(K520 STOP)

Medical system: Nervous

Breed: Lagotto Romagnolo

Age of onset of symptoms: Around the age of 8 weeks

Juvenile localized epilepsy is a neurological disease that appears around the age of 8 weeks and is characterized by epileptiform seizures. Usually, seizures disappear by the age of 13 weeks, but some individuals continue to have seizures as adults.

 

References:

OMIA link: [1596-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Uriarte A, Maestro Saiz I. (2016) Canine Versus Human Epilepsy: Are We Up to Date? J Small Anim Pract. 57(3):115-21. [pubmed/26931499]

Ekenstedt KJ, Oberbauer AM. (2013) Inherited epilepsy in dogs. Top Companion Anim Med. 28(2):51-8. [pubmed/24070682]

Seppälä EH, Jokinen TS, Fukata M et al. (2011) LGI2 truncation causes a remitting focal epilepsy in dogs. PLoS Genet. 7(7):e1002194. [pubmed/21829378]

Jokinen TS, Metsähonkala L, Bergamasco L, et al. (2007) Benign familial juvenile epilepsy in Lagotto Romagnolo dogs. J Vet Intern Med. 21(3):464-71. [pubmed/7552452]