N-甲基-D-天冬氨酸受体亚单位突变与癫痫。
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
机构信息
Department of Neurobiology, Key Laboratory of Medical Neurobiology (Ministry of Health of China), Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, 310058, China.
出版信息
Neurosci Bull. 2018 Jun;34(3):549-565. doi: 10.1007/s12264-017-0191-5. Epub 2017 Nov 10.
Abstract
Epilepsy is one of the most common neurological diseases. Of all cases, 70%-80% are considered to be due to genetic factors. In recent years, a large number of genes have been identified as being involved in epilepsy. Among them, N-methyl-D-aspartate receptor (NMDAR) subunit-encoding genes represent a large proportion, suggesting an important role for NMDARs in epilepsy. In this review, we summarize and analyze the genotypes, functional alterations, and clinical aspects of NMDAR subunit mutations/variants identified from patients with epilepsy. These data will help to throw light upon the pathogenicity of these NMDAR mutations and advance our understanding of the subtle and complicated role of NMDARs in epilepsy. It will also offer new insights into precision therapy for this disorder.
摘要
癫痫是最常见的神经系统疾病之一。所有病例中，有 70%-80%被认为是由于遗传因素引起的。近年来，大量基因被确定与癫痫有关。其中，N-甲基-D-天冬氨酸受体（NMDAR）亚基编码基因占很大比例，表明 NMDAR 在癫痫中起着重要作用。在这篇综述中，我们总结和分析了从癫痫患者中鉴定出的 NMDAR 亚基突变/变异的基因型、功能改变和临床方面。这些数据将有助于阐明这些 NMDAR 突变的致病性，并深入了解 NMDAR 在癫痫中的微妙而复杂的作用。它还将为这种疾病的精准治疗提供新的思路。
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