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引用次数: 0
摘要
发育性和癫痫性脑病(DEEs)是一组异质性疾病,其特征是在发育障碍的背景下,出现早发、通常严重的癫痫发作和脑电图异常,而发育障碍往往会因癫痫而恶化。DEE 既可能是非遗传性的,也可能是遗传性的。遗传性 DEE 与许多涉及不同功能的基因突变有关,这些功能包括细胞迁移、增殖和组织、神经元兴奋性以及突触传递和可塑性。在不同动物模型中进行的功能研究和对患者进行的临床试验有助于阐明许多 DEEs 的病理生理机制,并探索不同治疗方法的疗效。在此,我们对 DEEs 的表型谱以及这些疾病的遗传决定因素和病理生理机制进行了广泛的综述。我们还简要介绍了目前最有效的治疗方法和新出现的治疗方法。
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of disorders characterized by early-onset, often severe epileptic seizures and EEG abnormalities on a background of developmental impairment that tends to worsen as a consequence of epilepsy. DEEs may result from both nongenetic and genetic etiologies. Genetic DEEs have been associated with mutations in many genes involved in different functions including cell migration, proliferation, and organization, neuronal excitability, and synapse transmission and plasticity. Functional studies performed in different animal models and clinical trials on patients have contributed to elucidate pathophysiological mechanisms underlying many DEEs and have explored the efficacy of different treatments. Here, we provide an extensive review of the phenotypic spectrum included in the DEEs and of the genetic determinants and pathophysiological mechanisms underlying these conditions. We also provide a brief overview of the most effective treatment now available and of the emerging therapeutic approaches.
期刊介绍:
Physiological Reviews is a highly regarded journal that covers timely issues in physiological and biomedical sciences. It is targeted towards physiologists, neuroscientists, cell biologists, biophysicists, and clinicians with a special interest in pathophysiology. The journal has an ISSN of 0031-9333 for print and 1522-1210 for online versions. It has a unique publishing frequency where articles are published individually, but regular quarterly issues are also released in January, April, July, and October. The articles in this journal provide state-of-the-art and comprehensive coverage of various topics. They are valuable for teaching and research purposes as they offer interesting and clearly written updates on important new developments. Physiological Reviews holds a prominent position in the scientific community and consistently ranks as the most impactful journal in the field of physiology.