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Rodent Genetic Models of Neurodevelopmental Disorders and Epilepsy
European Journal of Paediatric Neurology ( IF 3.1 ) Pub Date : 2020-01-01 , DOI: 10.1016/j.ejpn.2019.12.012
Alfredo Gonzalez-Sulser 1
Affiliation  

Neurodevelopmental disorders (NDDs) are characterised by cognitive, social and motor deficits and are highly comorbid with intractable epilepsies. Through advances in genetic sequencing technologies a vast number of genes have been implicated in NDDs. State-of-the-art gene-editing techniques have led to the generation of hundreds of mouse models of NDDs. As an example, rodent models of Rett and Dravet syndromes as well as the syndromes caused by mutations in CDKL5 and Syngap1 display cognitive deficits in conjunction with seizure phenotypes. These models allow researchers to understand the underlying mechanisms as well as develop novel treatment strategies that can potentially be translated to the clinic. Furthermore, it may be possible to gain insights into the contribution of epilepsy to the progression of cognitive, social and motor phenotypes in NDDs.

中文翻译:

神经发育障碍和癫痫的啮齿动物遗传模型

神经发育障碍 (NDD) 的特征是认知、社交和运动缺陷,并且与顽固性癫痫高度共存。通过基因测序技术的进步,大量基因与 NDD 相关。最先进的基因编辑技术已经产生了数百个 NDD 小鼠模型。例如,Rett 和 Dravet 综合征的啮齿动物模型以及 CDKL5 和 Syngap1 突变引起的综合征显示出与癫痫表型相关的认知缺陷。这些模型使研究人员能够了解潜在机制并开发可能转化为临床的新型治疗策略。此外,有可能深入了解癫痫对认知进展的贡献,
更新日期:2020-01-01
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