Clinical, Molecular, and Neurophysiological Features in Angelman Syndrome

摘要

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay, speech impairment, ataxic movement, epilepsy, and characteristic behavior, including inappropriate laughter.1 The prevalence of AS is approximately 1 in 15,000 births, making AS one of the relatively common genetic epilepsy syndromes. Epilepsy is one of the main features of AS, and electroencephalogram (EEG) abnormalities are present in most patients. Developmental delay is usually noted at 6 months of age or later, with the average age at which infants with AS start walking independently being between 2.5 and 6 year. Loss of function of the imprinted ubiquitin protein ligase E3A (UBE3A) gene is responsible for most features of AS, with several genetic mechanisms underlying the loss of function of UBE3A}