Precision Medicine in Angelman Syndrome

 

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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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