Precision Medicine in Angelman Syndrome

被引：1
作者：
Manssen, Lena [1 ]
Krey, Ilona [2 ]
Gburek-Augustat, Janina [3 ]
von Hagen, Cornelia [1 ,4 ]
Lemke, Johannes R. [2 ,5 ]
Merkenschlager, Andreas [3 ]
Weigand, Heike
Makowski, Christine [1 ]
机构：
[1] Univ Hosp, Ludwig Maximilian Univ Munich, Dr Hauner Childrens Hosp, Dept Pediat,Div Pediat Neurol,Dev Med & Social Ped, Munich, Germany
[2] Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany
[3] Univ Leipzig, Hosp Children & Adolescents, Dept Women & Child Hlth, Div Neuropediat, Leipzig, Germany
[4] Kinderzentrum Munchen Gemeinnutzige GmbH, Munich, Germany
[5] Univ Leipzig, Med Ctr, Ctr Rare Dis, Leipzig, Germany
来源：
NEUROPEDIATRICS | 2025年 / 56卷 / 02期
关键词：
Angelman syndrome; precision medicine; ASO therapy; neurodevelopment; NEUROGENIC COMPOUND; NSI-189; PHOSPHATE; THERAPEUTIC TRIAL; DOUBLE-BLIND; EPILEPSY; TAURINE; MODEL; PHARMACOLOGY; DEFICIENCY; EXPRESSION;
D O I：
10.1055/a-2399-0191
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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.
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页码：69 / 82
页数：14
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