Benign Familial Juvenile Epilepsy

Other Names: BFJE
Affected Genes: LGI2
Inheritance: Autosomal Recessive
Mutation: chr3:85210442 (canFam3): A>T
Breed(s): Lagotto Romagnolo

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Common Symptoms

Benign familial juvenile epilepsy is an inherited disease reported to affect Lagotto Romagnolo dogs. Affected dogs develop seizures between five to nine weeks of age but they resolve by about four months of age. Severely affected dogs may develop Ataxia in addition to seizures. Because the early onset seizures reliably stop and are not associated with any other health problems, breeders have previously just regarded this finding as a known symptom of the breed. However, there are some reports of adult-onset seizures in this breed.

Testing Tips

Genetic testing of the LGI2 gene in Lagotto Romagnolo dogs will reliably determine whether a dog is a genetic Carrier of benign familial juvenile epilepsy. Benign familial juvenile epilepsy is known to be inherited in an Autosomal Recessive manner in dogs. Rarely, carrier dogs have been reported to have features of the disease. This may be due to a Mutation in another, unknown, seizure-causing gene. Additional studies are being conducted to identify why some carrier dogs may have seizures. When carrier dogs are bred with another dog that also is a carrier of the same mutation, there is a risk of having affected pups. For each pup that is born to this pairing, there is a 25% chance of having the disease. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers is not recommended. Lagotto Romagnolo dogs that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

  • Jokinen TS, Metsähonkala L, Bergamasco L, Viitmaa R, Syrjä P, Lohi H, Snellman M, Jeserevics J, Cizinauskas S. Benign familial juvenile epilepsy in Lagotto Romagnolo dogs. J Vet Intern Med. 2007 May-Jun; 21(3):464-71. [PubMed: 17552452]
  • 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]