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Neuropediatrics
DOI: 10.1055/a-2399-0191
Review Article

Precision Medicine in Angelman Syndrome

Lena Manssen  ‡   #
1   Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University Munich, Munich, Germany
,
Ilona Krey‡   #
2   Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
,
Janina Gburek-Augustat
3   Division of Neuropediatrics, Hospital for Children and Adolescents, Department of Women and Child Health, University of Leipzig, Leipzig, Germany
,
Cornelia von Hagen
1   Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University Munich, Munich, Germany
4   Kinderzentrum Munchen gemeinnutzige GmbH, kbo, Munich, Germany
,
Johannes R. Lemke
2   Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
5   Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany
,
Andreas Merkenschlager
3   Division of Neuropediatrics, Hospital for Children and Adolescents, Department of Women and Child Health, University of Leipzig, Leipzig, Germany
,
Heike Weigand
1   Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University Munich, Munich, Germany
,
Christine Makowski
1   Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University Munich, Munich, Germany
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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.

Keywords

Angelman syndrome - precision medicine - ASO therapy - neurodevelopment

# 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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