Human genes for Unverricht-Lundborg syndrome
Unverricht-Lundborg syndrome [DOID:3535]
Unverricht-Lundborg disease (abbreviated ULD or EPM1) is the most common form of an uncommon group of genetic epilepsy disorders called the progressive myoclonus epilepsies. It is caused due to a mutation in the cystatin B gene (CSTB). The disease is named after Heinrich Unverricht, who first described it in 1891, and Herman Bernhard Lundborg, who researched it in greater detail in 1903. ULD onsets in children between the ages of 6 and 16; there are no known cases in which the person was older than 18. Most cases originate from the Baltic region of Europe, though many have been reported from countries in the Mediterranean.
Synonyms: Unverricht-Lundborg syndrome, DOID:3535, UnverrichtLundborg syndrome, Unverricht-Lundborg disease, Unverricht-Lundborg disorder ...