Precision Medicine in Angelman Syndrome

Lena Manssen; Ilona Krey; Janina Gburek-Augustat; Cornelia von Hagen; Johannes R. Lemke; Andreas Merkenschlager; Heike Weigand; Christine Makowski

doi:10.1055/a-2399-0191

Neuropediatrics, Table of Contents

Neuropediatrics 2025; 56(02): 069-082
DOI: 10.1055/a-2399-0191

Review Article

Precision Medicine in Angelman Syndrome

Lena Manssen ^#

¹Division 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^#

²Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

,

Janina Gburek-Augustat

³Division of Neuropediatrics, Hospital for Children and Adolescents, Department of Women and Child Health, University of Leipzig, Leipzig, Germany

,

Cornelia von Hagen

¹Division 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

⁴Kinderzentrum Munchen gemeinnutzige GmbH, kbo, Munich, Germany

,

Johannes R. Lemke

²Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

⁵Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany

,

Andreas Merkenschlager

³Division of Neuropediatrics, Hospital for Children and Adolescents, Department of Women and Child Health, University of Leipzig, Leipzig, Germany

,

Heike Weigand

¹Division 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

¹Division 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

› Author Affiliations

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

Full Text

References

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