Juvenile Epilepsy (Benign Familial) - Lagotto Romagnolo Type

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Test Overview:

The resulting epilepsy onsets at around seven weeks (equivalent to human two years), and remits by four months (human eight years), versus onset after age eight in the majority of human patients with LGI1 mutations. Finally, we show that Lgi2 is expressed highly in the immediate post-natal period until halfway through pruning, unlike Lgi1, which is expressed in the latter part of pruning and beyond.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

Leucine rich repeat LGI family member 2 on Chromosome 3

Variant Detected:

Base Substitution c.1552A>T p.Lys518STOP

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Seppälä EH, et al. LGI2 truncation causes a remitting focal epilepsy in dogs. (2011) PLoS Genet 7(7);e1002194

Associated Breed(s):

Lagotto Romagnolo, Mixed Breed,