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新生儿及婴儿癫痫:获得性和遗传模型

Neonatal and Infantile Epilepsy: Acquired and Genetic Models.

作者信息

Galanopoulou Aristea S, Moshé Solomon L

机构信息

Saul R. Korey Department of Neurology, Dominick P. Purpura Department of Neuroscience, Laboratory of Developmental Epilepsy, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York 10461.

Saul R. Korey Department of Neurology, Dominick P. Purpura Department of Neuroscience, Laboratory of Developmental Epilepsy, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York 10461 Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York 10461.

出版信息

Cold Spring Harb Perspect Med. 2015 Dec 4;6(1):a022707. doi: 10.1101/cshperspect.a022707.

Abstract

The incidence of seizures and epilepsies is particularly high during the neonatal and infantile periods. We will review selected animal models of early-life epileptic encephalopathies that have addressed the dyscognitive features of frequent interictal spikes, the pathogenesis and treatments of infantile spasms (IS) or Dravet syndrome, disorders with mammalian target of rapamycin (mTOR) dysregulation, and selected early-life epilepsies with genetic defects. Potentially pathogenic mechanisms in these conditions include interneuronopathies in IS or Dravet syndrome and mTOR dysregulation in brain malformations, tuberous sclerosis, and related genetic disorders, or IS of acquired etiology. These models start to generate the first therapeutic drugs, which have been specifically developed in immature animals. However, there are challenges in translating preclinical discoveries into clinically relevant findings. The advances made so far hold promise that the new insights may potentially have curative or disease-modifying potential for many of these devastating conditions.

摘要

癫痫发作和癫痫在新生儿期和婴儿期的发病率特别高。我们将回顾一些早期癫痫性脑病的动物模型,这些模型涉及频繁发作间期棘波的认知功能障碍特征、婴儿痉挛症(IS)或德雷维特综合征的发病机制及治疗、哺乳动物雷帕霉素靶蛋白(mTOR)失调的疾病,以及一些具有遗传缺陷的早期癫痫。这些病症中潜在的致病机制包括IS或德雷维特综合征中的中间神经元病变,以及脑畸形、结节性硬化症和相关遗传疾病或后天性病因的IS中的mTOR失调。这些模型开始产生首批专门为幼龄动物开发的治疗药物。然而,将临床前的发现转化为临床相关的结果存在挑战。迄今为止取得的进展表明,这些新见解可能对许多此类毁灭性疾病具有治愈或改善疾病的潜力。

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