Description: Typical manifestations of epilepsy are chronic neurological symptoms that are characterized by unprovoked and recurring seizures. These seizures are transient symptoms of neural activity in the brain that is abnormal, excessive, or synchronous (Seppälä et al., 2012). The onset of the disease is at the age of 5 to 9 weeks, and within 4 months the epilepsy will completely subside. The gene responsible for juvenile epilepsy is homologous to the LGI gene responsible for human epilepsy. The study described a homozygous c.1552 A>T mutation in the LGI2 gene leading to the formation of a premature stop codon in exon 8, which results in the shortening of the last 12 amino acids in the protein.
Inheritance: autosomal recessive
Mutation: c.1552 A>T in LGI2 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Lagotto Romagnolo