6533b831fe1ef96bd1299673

RESEARCH PRODUCT

The angelman syndrome: A brief review

Agata MalteseMargherita SalernoGabriele TripiP. RomanoA. RicciardiA. FolcoTeresa Di FilippoLucia Parisi

subject

Medicine (all)Angelman syndromeUBE3AAngelman syndrome; Behavioural abnormalities; EEG abnormalities; Mental retardation; UBE3A; Medicine (all)Mental retardationEEG abnormalitieBehavioural abnormalitie

description

Angelman's Syndrome (AS) was described for the first time by Harry Angelman in the 1960s, based on obervation of three child patients with similar physical and behavioral features such as severe intellectual impairment, lack of language, motor disorders and happy behaviour. Many years later the typical patients' features were identified as linked to genetic abnormalities mainly characterized by neurological symptoms. Life expectancy is good although the symptoms tend to be stable and severe.

yearjournalcountryeditionlanguage
2017-01-01
10.19193/0393-6384_2017_4_100http://hdl.handle.net/10447/242258