Benign Familial Juvenile Epilepsy

Other Names: BFJE
Affected Genes: LGI2
Inheritance: Autosomal Recessive
Mutation: chr3:85210442-85210442: A>T

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Common Symptoms

Benign Familial Juvenile Epilepsy is an inherited disease affecting Lagotto Romagnolo dogs. Affected dogs develop seizures between five to nine weeks of age, but clinical signs resolve by about four months of age. Severely affected dogs may develop Ataxia in addition to seizures. Because the disease is transient and not associated with any other health problems, breeders have previously considered early onset, transient seizures as an accepted symptom of the breed. Prognosis for affected dogs is good.


Breed-Specific Information for the Lagotto Romagnolo

The Mutation of the BFJE gene associated with benign familial juvenile epilepsy has been identified in the Lagotto Romagnolo. Though the frequency in the overall Lagotto Romagnolo population is unknown, in one study of 576 Lagotto Romagnolo dogs from a population from Finland, Sweden and Switzerland, 32% were carriers of the mutation and 8% were at-risk/affected.


Testing Tips

Genetic testing of the BFJE 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 inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. Rarely, carrier dogs have been reported to have features of the disease, but this may be due to a Mutation in another, unknown, seizure-causing gene. When a carrier is bred with another carrier of the same mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the BFJE gene mutation. 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 to each other 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]