Authors
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Dr. Yasin Mansuri* and Mehra Ashishrai
Abstract
Angelman Syndrome (AS) is a rare neurogenetic disorder characterized by severe developmental delay, intellectual disability, absent or minimal speech, movement abnormalities, and a unique behavioral phenotype marked by frequent laughter and an excitable personality. The disorder results primarily from genetic abnormalities involving the UBE3A gene on chromosome 15q11–q13. This review provides an overview of the etiology, clinical features, diagnostic approaches, management strategies, and recent therapeutic advances in Angelman Syndrome. Despite the absence of a definitive cure, early diagnosis and supportive interventions significantly improve quality of life. Therefore, this review highlights the epigenetic aspects involved in the AS in order to provide a better understanding and clarification of the mechanisms, hopefully paving the way for future research to improve the treatment of affected individuals.