Emerging Therapies and challenges for individuals with Angelman syndrome

Helen S. Heussler

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Emerging Therapies and challenges for individuals with Angelman syndrome

机译：具有朝南综合征的个人的新疗法和挑战

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Purpose of review This review describes current understandings in the search for therapies to support children with Angelman syndrome. There is a rapid progression in particular in genetic therapies in this disorder supported by the Angelman community. Recent findings Recent papers shed light on the timing of therapies and novel genetic therapies coming to trial as well as potential therapies still in preclinical phases. Further understanding of UBE3A and its role in neuronal development and plasticity as well as other mechanisms contributing to the Angelman phenotype is offering an opportunity for novel therapeutics. Summary Greater understanding of the pathophysiology of the different phenotypes will offer an opportunity for novel therapeutics and may well change the course of this disorder over time where previously there has been minimal ability to intervene.

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来源
《Current opinion in psychiatry》 |2021年第2期|共6页
作者
Helen S. Heussler;
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作者单位

Child Development Program Children's Health Queensland;

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原文格式 PDF
正文语种 eng
中图分类精神病学;
关键词
Angelman syndrome; biomarkers; epilepsy; therapeutics;

机译：Angelman综合征;生物标志物;癫痫;治疗学;

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Emerging Therapies and challenges for individuals with Angelman syndrome

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