{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T14:38:23Z","timestamp":1788446303678,"version":"build-2803163510"},"reference-count":102,"publisher":"Georg Thieme Verlag KG","issue":"02","funder":[{"name":"Angelman e. V."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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.<\/jats:p><jats:p>This article will provide an overview of clinical research and therapeutic approaches on AS.<\/jats:p>","DOI":"10.1055\/a-2399-0191","type":"journal-article","created":{"date-parts":[[2024,8,21]],"date-time":"2024-08-21T22:58:54Z","timestamp":1724281134000},"page":"069-082","source":"Crossref","is-referenced-by-count":9,"title":["Precision Medicine in Angelman Syndrome"],"prefix":"10.1055","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-9602-4166","authenticated-orcid":false,"given":"Lena","family":"Manssen","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilona","family":"Krey","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janina","family":"Gburek-Augustat","sequence":"additional","affiliation":[{"name":"Division of Neuropediatrics, Hospital for Children and Adolescents, Department of Women and Child Health, University of Leipzig, Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia","family":"von Hagen","sequence":"additional","affiliation":[{"name":"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"},{"name":"Kinderzentrum Munchen gemeinnutzige GmbH, kbo, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes R.","family":"Lemke","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany"},{"name":"Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Merkenschlager","sequence":"additional","affiliation":[{"name":"Division of Neuropediatrics, Hospital for Children and Adolescents, Department of Women and Child Health, University of Leipzig, Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"Weigand","sequence":"additional","affiliation":[{"name":"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, 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