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Benign Familial Juvenile Epilepsy

Breeds

Relevance Rating: Moderate evidence for test being meaningful in this breed

General

Disease Name
Benign Familial Juvenile Epilepsy
Mutation
c.1552A>T
Test Type
Genetic Disease/Disorder
Details
Benign Familial Juvenile Epilepsy (BFJE) is an inherited neurological disease. The disease is characterized by seizures in pups, with the age of onset around 8 weeks of age, resolving by 13 weeks. Some adult cases have been observed. There are many forms of epilepsy reported across many breeds (and mixed-breeds), and only a few have tests associated with them. It has been reported that some dogs tested as carriers for this condition have had symptoms of BFJE, and it is not known if this is due to an different, unidentified mutation or if it is possible in some cases for one copy of the mutation to cause disease. Researchers are engaged with breed clubs and owners to further understanding.
Details 2
Benign Familial Juvenile Epilepsy (BFJE) is an inherited neurological disease. The disease is characterized by seizures in pups, with the age of onset around 8 weeks of age, resolving by 13 weeks. Some adult cases have been observed. There are many forms of epilepsy reported across many breeds (and mixed-breeds), and only a few have tests associated with them. It has been reported that some dogs tested as carriers for this condition have had symptoms of BFJE, and it is not known if this is due to an different, unidentified mutation or if it is possible in some cases for one copy of the mutation to cause disease. Researchers are engaged with breed clubs and owners to further understanding.
Published
Seppala EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen S,Steffen F, Dietschi E, Leeb T, Eklund R, Xiaochu Z, Rilstone J, Lindblad-Toh K, Minassian BA and Lohi H. LGI2 truncation causes a remitting focal epilepsy in dogs. PLoS Genet. 2011 Jul;7(7):e1002194. Epub 2011 Jul 28.
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