Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS (Am J Med Genet 125A: 167–172)

Investigation ofUBE3A andMECP2 in Angelm

Investigation ofUBE3A andMECP2 in Angelman syndrome (AS) and patients with features of AS

✍ Hitchins, Megan P. ;Rickard, Sarah ;Dhalla, Fatima ;de Vries, Bert B.A. ;Winter, 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 80 KB 👁 2 views

## Abstract Angelman syndrome (AS) is an imprinted neurobehavioral disorder characterized by mental retardation, absent speech, excessive laughter, seizures, ataxia, and a characteristic EEG pattern. Classical lesions, including deletion, paternal disomy, or epigenetic mutation, are confirmatory of