Juvenile Epilepsy (Benign Familial) - Lagotto Romagnolo Type Overview
Juvenile Epilepsy (Benign Familial) - Lagotto Romagnolo Type
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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: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.
Mode of Inheritance: Autosomal Recessive
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.
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,