Benign Familial Juvenile Epilepsy (BFJE)
Benign Familial Juvenile Epilepsy (BFJE) is an inherited neurological disease that occurs in Lagotto Romagnolo dogs due to a mutation in the LGI2 gene. Symptoms of BFJE typically occur early in pups between five to nine weeks of age and are characterized by seizures that usually resolve by approximately four months of age but some adult cases of BFJE have been observed within the breed. Although severely affected dogs may develop ataxia in addition to seizures, the prognosis for affected dogs is typically good.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop BFJE nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop BFJE and will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with BFJE which can result in seizures and potential ataxia.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
LGI2
Chromosome
Ch. 3
Mutation
C.1552 A>T
Publication:
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. [PubMed: 21829378]
