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癫痫的液体活检:病因学、诊断、预后和治疗的生物标志物。

Liquid biopsies in epilepsy: biomarkers for etiology, diagnosis, prognosis, and therapeutics.

机构信息

Cell, Developmental and Integrative Biology, The University of Alabama at Birmingham, Birmingham, AL, USA.

Department of Neurosurgery, Duke University Medical Center, Durham, NC, USA.

出版信息

Hum Cell. 2022 Jan;35(1):15-22. doi: 10.1007/s13577-021-00624-x. Epub 2021 Oct 25.

Abstract

Epilepsy is one of the most common diseases of the central nervous system, impacting nearly 50 million people around the world. Heterogeneous in nature, epilepsy presents in children and adults alike. Currently, surgery is one treatment approach that can completely cure epilepsy. However, not all individuals are eligible for surgical procedures or have successful outcomes. In addition to surgical approaches, antiepileptic drugs (AEDs) have also allowed individuals with epilepsy to achieve freedom from seizures. Others have found treatment through nonpharmacologic approaches such as vagus nerve stimulation, or responsive neurostimulation. Difficulty in accessing samples of human brain tissue along with advances in sequencing technology have driven researchers to investigate sampling liquid biopsies in blood, serum, plasma, and cerebrospinal fluid within the context of epilepsy. Liquid biopsies provide minimal or non-invasive sample collection approaches and can be assayed relatively easily across multiple time points, unlike tissue-based sampling. Various efforts have investigated circulating nucleic acids from these samples including microRNAs, cell-free DNA, transfer RNAs, and long non-coding RNAs. Here, we review nucleic acid-based liquid biopsies in epilepsy to improve understanding of etiology, diagnosis, prediction, and therapeutic monitoring.

摘要

癫痫是中枢神经系统最常见的疾病之一,影响着全球近 5000 万人。癫痫具有异质性,在儿童和成人中均有发生。目前,手术是一种可以完全治愈癫痫的治疗方法。然而,并非所有人都适合手术或手术效果良好。除了手术方法,抗癫痫药物(AEDs)也使癫痫患者能够实现无癫痫发作。还有一些人通过非药物治疗方法如迷走神经刺激或反应性神经刺激找到了治疗方法。由于获取人类脑组织样本的困难以及测序技术的进步,研究人员开始研究在癫痫背景下从血液、血清、血浆和脑脊液中取样液体活检。与基于组织的取样不同,液体活检提供了最小或非侵入性的样本采集方法,并且可以在多个时间点相对容易地进行检测。各种研究都从这些样本中检测了循环核酸,包括 microRNAs、无细胞 DNA、转移 RNA 和长非编码 RNA。在这里,我们综述了癫痫的基于核酸的液体活检,以提高对病因、诊断、预测和治疗监测的认识。

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