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, ss.137-142, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 50 Konu: 2
  • Basım Tarihi: 2008
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.137-142

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.