Description of Angelman syndrome
Descripción del síndrome de Angelman
- Date
- 1965 · confidence high
- Place
- Warrington, England, United Kingdom
- Credited to
- Harry Angelman
- Field
- Life & health
What was discovered
Pediatrician Harry Angelman described three children with a previously unrecognised condition of developmental delay, jerky movements and a habitually cheerful demeanor, which he called 'puppet children' after an Italian Renaissance painting. The identification was purely clinical, without genetic confirmation, which would come with the discovery of the UBE3A gene in 1997.
What it led to
- Identification of genetic markers (1987)
- Discovery of the UBE3A gene mutation as the cause (1997)
- Founding of the Angelman Syndrome Foundation (1992)