Angelman syndrome: clinical findings and follow-up data of 14 patients

Kara B., Karaman B., Ozmen M., Rosti R. O., Caliskan M., Kayserili H., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.50, no.2, pp.137-142, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 2
  • Publication Date: 2008
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.137-142
  • Istanbul University Affiliated: Yes

Abstract

The diagnosis of Angelman syndrome (AS) is based on the clinical features, behavior, EEG findings, and genetic abnormalities. The physical, clinical and behavioral aspects appear to attributable to localized central nervous system (CNS) dysfunction of the ubiquitin ligase gene, UBE3A, located at 15q11.2. The features of AS frequently become apparent at 1-4 years of age, and the average age at diagnosis is 6 years.