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Updated: Aug 15, 2026

Behavioral Characterization of an Angelman Syndrome Mouse Model
Published on: October 20, 2023
Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns
Kette D Valente1, Cintia Fridman, Monica C Varela
1Laboratory of Clinical Neurophysiology, Institute and Department of Psychiatry, University of São Paulo Medical School, R. Jesuíno Arruda 901 Apt. 51, 04532-082 São Paulo, SP, Brazil. kettevalente@msn.com
Abstract:
The authors describe the electroclinical phenotype of four patients with Angelman syndrome (AS) determined by its rarest genetic mechanism-uniparental disomy (UPD). The analysis of ours and published patients showed that in UPD, when epilepsy occurred, it was milder compared to patients with deletion, although a suggestive EEG was observed in most patients. We found that UPD patients do not completely fit the scenario delineated for AS, suggesting that patients determined by different mechanisms should be distinctly addressed, for a better understanding of this syndrome.
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