Unverricht-Lundborg syndrome
Enfermedad de Unverricht-Lundborg
- Date
- 1891 (Unverricht) / 1901-1903 (Lundborg) · confidence high
- Place
- Magdeburg, Saxony-Anhalt, Germany
- Credited to
- Heinrich Unverricht y Herman Bernhard Lundborg
- Field
- Life & health
What was discovered
The most common form of progressive myoclonic epilepsy, caused by mutations in the cystatin B gene, first described by Heinrich Unverricht in 1891 and studied in greater detail by Herman Bernhard Lundborg in 1901-1903.
What it led to
- Identification of the causative CSTB gene (1996)
- Classification as progressive myoclonic epilepsy (EPM1)
- Genetic diagnosis and counseling in affected families