Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome.

摘要: Angelman syndrome is a neurogenetic disorder that severely affects global neurodevelopment due to modifications in the structure or functioning of UBE3A gene. Its prevalence ranges from 1:10,000 1:40,000. There are four main genetic types AS transmission. A maternal deletion 15q11.2-q13 most common type. three well-established electroencephalogram (EEG) patterns used as an ancillary tool for diagnosis. The objectives scrutinize EEG syndrome, their correlation different seizures and review role screening diagnosis clinically suspected patients. Forty-three patients’ charts previously recorded EEGs were reviewed. set 34 patients with type, paternal uniparental disomy type imprint defect enrolled. was confirmed either by fluorescent situ hybridization test Methylation Specific–Multiplex Ligation Probe Amplification test. Sequencing not available. Frequencies Chi-square tests statistic analysis. Pattern I observed 22 (64.7 %) individuals. II accounted 6 (17.6 %); III evident 11 (32.4 %). distinguished patterns, more frequently I, when appropriate clinical setting, may heighten index suspicion selecting who will need molecular biology confirm AS.