Juvenile Epilepsy (JE/BFJE) – Lagotto Romagnolo
Kodas: H486
Short description
Benign Familial Juvenile Epilepsy (BFJE or JE) is an unusual disorder unique to the Lagotto Romagnolo.
General information
Benign Familial Juvenile Epilepsy (BFJE or JE) is an unusual disorder unique to the Lagotto Romagnolo. Affected puppies suffer from epileptic seizures between the ages of about 1 and 4 months. After this time, the seizures disappear. The condition is caused by a recessive mutation to the gene LGI2. A little under half of the current Lagotto Romagnolo population is a carrier for this mutation.
Specifications
| Breeds | |
|---|---|
| Gene | LGI2 |
| Chromosome | 3 |
| Mutation | c.1552A>T |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | BFJE; JE |
Clinical features
BFJE seizures start between the age of 5 to 9 weeks. They manifest as bodily tremors with uncoordinated movement and stiffness, lasting between several seconds and several minutes. The seizures can start at any time of day. The condition resolves at the age of approximately 4 months. Some adult carriers of BFJE might also show epileptic symptoms.
References
Pubmed ID: 21829378
Year published: 2011
Omia ID: 1596
Omia variant ID:
Turnaround information
- 10 working days