Test Detail

Juvenile epilepsy (JE)

Neurological · Dog

Benign juvenile epilepsy of the Lagotto romagnolo, with imperfect Mendelian inheritance (autosomal dominant with incomplete penetrance) and caused by a loss-of-function mutation in LGI2. It presents with focal seizures of very early onset (5-9 weeks) and resolves spontaneously by around 4 months in most puppies. It is considered a natural model of human infantile remitting epilepsies linked to the LGI1/LGI2 pathway.
Inheritance patternAutosomal dominant with incomplete penetrance (imperfect Mendelian inheritance): in ~93 % of affected animals homozygosity of the mutated allele is required, in ~7 % heterozygosity is enough, and ~1.8 % of homozygotes do not have seizures.
Gene / MutationLGI2 c.1552A>T p.(Lys518Ter), nonsense loss-of-function mutation on canine chromosome 3 (g.85210442A>T); OMIA001596-9615.
PenetranceIncomplete. According to Seppälä et al. (2011), ~93 % of affected dogs are homozygous for the mutation and ~7 % heterozygous; ~1.8 % of homozygotes show no seizures. Onset around 5-9 weeks and remission by around 4 months in most; a subgroup keeps having seizures or develops progressive neurological signs.
Codezeeh
Turnaround time10 days
Price52,60 €

Incidence

Affected breed: Lagotto romagnolo. Limited data on the exact frequency of carriers and cases.

Breeder management

- Test breeding animals with the LGI2 test before breeding
- Avoid crossing two carriers: in ~93 % of cases the disease requires homozygosity and in ~7 % heterozygosity is enough
- A carrier can be crossed with a clear individual; test the offspring intended for breeding
- Record the history of seizures in the pedigree to guide selection
- Most puppies remit by around 4 months, but do not breed with confirmed affected animals

Specialist notes

Differential diagnosis with neonatal hypoglycaemia, intoxications, meningoencephalitis and other epilepsies. EEG and clinical evolution guide. The course is usually benign, but not universally; some puppies require antiepileptic treatment and developmental monitoring.

References

1. Jokinen TS et al. 2007. Benign familial juvenile epilepsy in Lagotto Romagnolo dogs. J Vet Intern Med. PMID: 17552452
2. Seppälä EH et al. 2011. LGI2 truncation causes a remitting focal epilepsy in dogs. PLoS Genet. PMID: 21829378
3. Jokinen TS et al. 2015. Behavioral Abnormalities in Lagotto Romagnolo Dogs with a History of Benign Familial Juvenile Epilepsy: A Long-Term Follow-Up Study. J Vet Intern Med. PMID: 25945683
4. Pakozdy A et al. 2015. LGI Proteins and Epilepsy in Human and Animals. J Vet Intern Med. PMID: 26032921
OMIA001596-9615.

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