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Neuropediatrics 2025; 56(02): 069-082
DOI: 10.1055/a-2399-0191
DOI: 10.1055/a-2399-0191
Review Article
Precision Medicine in Angelman Syndrome
Abstract
Angelman syndrome (AS) is a rare neurogenetic disorder caused by a loss of function of UBE3A on the maternal allele. Clinical features include severe neurodevelopmental delay, epilepsy, sleep disturbances, and behavioral disorders. Therapy currently evolves from conventional symptomatic, supportive, and antiseizure treatments toward alteration of mRNA expression, which is subject of several ongoing clinical trials.
This article will provide an overview of clinical research and therapeutic approaches on AS.
# Lena Manssen and Ilona Krey contributed equally.
Publication History
Received: 10 June 2024
Accepted: 13 August 2024
Accepted Manuscript online:
21 August 2024
Article published online:
28 September 2024
© 2024. Thieme. All rights reserved.
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
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