Division of Child Neurology, Children's Hospital Orange County, Orange, CA; Departments of Pediatrics and Neurology, University of California- Irvine School of Medicine, Irvine, CA.
Cincinnati Children's Hospital Medical Center, Division of Neurology, Cincinnati, OH; University of Cincinnati, College of Medicine, Department of Pediatrics, Cincinnati, OH.
Semin Pediatr Neurol. 2021 Apr;37:100881. doi: 10.1016/j.spen.2021.100881. Epub 2021 Mar 18.
Since the discovery of the genetic basis of Rett syndrome in 1999, our understanding has grown considerably both in the scientific and the clinical realms. In the last two decades, we have learned about the far-reaching effects of the aberrant MeCP2 protein, the growing list of involved genetic factors, and the genotype-phenotype clinical expression of common MECP2 mutations. This knowledge has led to several basic science research and clinical trials, focusing specifically on emerging treatments of Rett syndrome. As the pathophysiology behind the disease is better understood, treatments aimed at specific molecular targets will become available for clinicians to improve the life of individuals with Rett syndrome.
自 1999 年发现 Rett 综合征的遗传基础以来，我们在科学和临床领域的理解都有了很大的提高。在过去的二十年中，我们了解了异常 MeCP2 蛋白的深远影响、越来越多涉及的遗传因素，以及常见 MECP2 突变的基因型-表型临床表达。这些知识引发了一些基础科学研究和临床试验，专门针对 Rett 综合征的新兴治疗方法。随着对疾病病理生理学的更好理解，针对特定分子靶点的治疗方法将可供临床医生使用，以改善 Rett 综合征患者的生活。
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