2011 Group Project 7
From Embryology
Angelman Syndrome
Introduction
Angelman syndrome (AS) is a rare neurogenetic disorder, first described by Harry Angelman in 1956.
It is caused by maternal allele disruptions of a single gene-UBE3A. Either mutations or deletions of UBE3A are liable for a variety of symptoms. Delayed development, seizures, motion malfunction, impairment of speech and a happy demeanor are the most frequent ones.[1] [2] [3] The syndrome is sometimes incorrectly referred to as "happy puppet" syndrome, due to frequent laughter and excitement. [4]
