Breeds Affected: Lagotto Romagnolo
Samples Accepted: Blood, Buccal Swabs
Disease Information: Benign Familiar Juvenile Epilepsy (BFJE), also known as Remitting Focal Epilepsy, causes seizures in pups between 1-5 months of age. The seizures cause whole body tremors, altered consciousness, and ataxia. After approximately 5 months of age, seizures do not reoccur.
Inheritance Information: BFJE is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/bfje The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/bfje carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
bfje/bfje The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/bfje carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/bfje x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/bfje x N/bfje) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (bfje/bfje) should not be used for breeding.
Test Information: This mutation test identifies a single base pair change in the LGI2 gene.
Seppälä, E.H., Jokinen, T.S., Fukata, M., Fukata, Y., Webster, M.T., Karlsson, E.K., Kilpinen, S.K., Steffen, F., Dietschi, E., Leeb, T., Eklund, R., Zhao, X., Rilstone, J.J., Lindblad-Toh, K., Minassian, B.A., Lohi, H.: LGI2 truncation causes a remitting focal epilepsy in dogs. PLoS Genet 7:e1002194, 2011. Pubmed reference: 21829378. Doi: 10.1371/journal.pgen.1002194.
Further information is available at the Online Mendelian Inheritance in Animals website.