安杰曼综合征的精准医疗

IF 1.1 4区医学 Q4 CLINICAL NEUROLOGY

Neuropediatrics Pub Date : 2024-09-28 DOI:10.1055/a-2399-0191

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

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引用次数: 0

摘要

安杰尔曼综合征（AS）是一种罕见的神经遗传性疾病，由母体等位基因 UBE3A 功能缺失引起。临床特征包括严重的神经发育迟缓、癫痫、睡眠障碍和行为障碍。目前，治疗方法已从传统的对症治疗、支持治疗和抗癫痫治疗转向改变 mRNA 表达，这也是正在进行的几项临床试验的主题。本文将概述强直性脊柱炎的临床研究和治疗方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Precision Medicine in Angelman Syndrome.

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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来源期刊

Neuropediatrics 医学-临床神经学

CiteScore

2.80

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： For key insights into today''s practice of pediatric neurology, Neuropediatrics is the worldwide journal of choice. Original articles, case reports and panel discussions are the distinctive features of a journal that always keeps abreast of current developments and trends - the reason it has developed into an internationally recognized forum for specialists throughout the world. Pediatricians, neurologists, neurosurgeons, and neurobiologists will find it essential reading.