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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.
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Associated Breed(s):
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Category:
Genetic Diseases
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:
Recomended Screening:
Research Citation(s):