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H486

Benign Familial Juvenile Epilepsy (BFJE or JE) is an unusual disorder unique to the Lagotto Romagnolo.

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Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

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.

Caratteristiche cliniche

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.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 21829378

Omia ID: 1596

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