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WONOEP 评估:早发性癫痫建模。

WONOEP appraisal: Modeling early onset epilepsies.

机构信息

Institut du Cerveau-Paris Brain Institute-ICM, Institut National de la Santé et de la Recherche Médicale (INSERM), CNRS, Sorbonne Université, Paris, France.

Laboratory for Molecular Biodiscovery, KU Leuven, Leuven, Belgium.

出版信息

Epilepsia. 2024 Sep;65(9):2553-2566. doi: 10.1111/epi.18063. Epub 2024 Jul 23.

Abstract

Epilepsy has a peak incidence during the neonatal to early childhood period. These early onset epilepsies may be severe conditions frequently associated with comorbidities such as developmental deficits and intellectual disability and, in a significant percentage of patients, may be medication-resistant. The use of adult rodent models in the exploration of mechanisms and treatments for early life epilepsies is challenging, as it ignores significant age-specific developmental differences. More recently, models developed in immature animals, such as rodent pups, or in three-dimensional organoids may more closely model aspects of the immature brain and could result in more translatable findings. Although models are not perfect, they may offer a more controlled screening platform in studies of mechanisms and treatments, which cannot be done in pediatric patient cohorts. On the other hand, more simplified models with higher throughput capacities are required to deal with the large number of epilepsy candidate genes and the need for new treatment options. Therefore, a combination of different modeling approaches will be beneficial in addressing the unmet needs of pediatric epilepsy patients. In this review, we summarize the discussions on this topic that occurred during the XVI Workshop on Neurobiology of Epilepsy, organized in 2022 by the Neurobiology Commission of the International League Against Epilepsy. We provide an overview of selected models of early onset epilepsies, discussing their advantages and disadvantages. Heterologous expression models provide initial functional insights, and zebrafish, rodent models, and brain organoids present increasingly complex platforms for modeling and validating epilepsy-related phenomena. Together, these models offer valuable insights into early onset epilepsies and accelerate hypothesis generation and therapy discovery.

摘要

癫痫在新生儿至幼儿期发病率较高。这些早期发作的癫痫可能是严重的疾病,常伴有发育缺陷和智力残疾等合并症,并且在很大比例的患者中,可能对药物治疗有抵抗性。在探索儿童期癫痫的发病机制和治疗方法时,使用成年啮齿动物模型具有挑战性,因为它忽略了与年龄相关的显著发育差异。最近,在不成熟动物(如幼鼠)或三维类器官中开发的模型可能更接近不成熟大脑的某些方面,并可能产生更具转化意义的发现。尽管模型并不完美,但它们可能为机制和治疗研究提供更可控的筛选平台,而这些在儿科患者群体中是无法进行的。另一方面,需要具有更高通量能力的更简化模型来处理大量的癫痫候选基因和新的治疗方法选择。因此,结合不同的建模方法将有助于满足儿科癫痫患者的未满足需求。在这篇综述中,我们总结了在 2022 年由国际抗癫痫联盟神经生物学委员会组织的第十六届癫痫神经生物学研讨会上关于这一主题的讨论。我们概述了几种早期发作性癫痫模型,讨论了它们的优缺点。异源表达模型提供了初步的功能见解,而斑马鱼、啮齿动物模型和脑类器官为模拟和验证与癫痫相关的现象提供了越来越复杂的平台。这些模型共同为早期发作性癫痫提供了有价值的见解,并加速了假说的产生和治疗方法的发现。

本文引用的文献

5
Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy.遗传性癫痫 HCN1 模型小鼠的视网膜功能障碍。
J Neurosci. 2023 Mar 22;43(12):2199-2209. doi: 10.1523/JNEUROSCI.1615-22.2022. Epub 2023 Feb 22.
6
Developmental mechanisms underlying the evolution of human cortical circuits.人类皮质回路进化的发育机制。
Nat Rev Neurosci. 2023 Apr;24(4):213-232. doi: 10.1038/s41583-023-00675-z. Epub 2023 Feb 15.

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