The angelman syndrome: A brief review

Agata Maltese, Lucia Parisi, Margherita Salerno, Gabriele Tripi, Gabriele Tripi, Palmira Romano, Annaclaudia Ricciardi, Teresa Di Filippo

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)667-673
Number of pages7
JournalActa Medica Mediterranea
Volume33
Publication statusPublished - 2017

All Science Journal Classification (ASJC) codes

  • General Medicine

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