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Juvenile Epilepsy (Benign Familial) - Lagotto Romagnolo Type

Description

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.

Recommended Breeding

Diseases

Juvenile Epilepsy (Benign Familial) - Lagotto Romagnolo Type

$ 50.00

Associated Breed(s):

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Category:

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

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.

Gene:

Leucine rich repeat LGI family member 2 on Chromosome 3

Variant Detected:

Base Substitution c.1552A>T p.Lys518STOP

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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