Myoclonic Epilepsy of Unverricht and Lundborg

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the CSTB gene, encoding cystatin-B. It is characterized by progressive myoclonic epilepsy, with progression occurring between 6 and 13 years of age.

**Synonyms:** - EPM1A - Epilepsy, Progressive, Myoclonic 1A - ULD - Unverricht-Lundborg Disease