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

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

TURKISH JOURNAL OF PEDIATRICS, cilt.50, sa.2, ss.137-142, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 50 Sayı: 2
  • Basım Tarihi: 2008
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.137-142
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.