Department of Genetics & Development, Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, United States of America.
Neurobiol Dis. 2021 Jan;148:105220. doi: 10.1016/j.nbd.2020.105220. Epub 2020 Dec 7.
Mouse models have made innumerable contributions to understanding the genetic basis of neurological disease and pathogenic mechanisms and to therapy development. Here we consider the current state of mouse genetic models of Developmental and Epileptic Encephalopathy (DEE), representing a set of rare but devastating and largely intractable childhood epilepsies. By examining the range of mouse lines available in this rapidly moving field and by detailing both expected and unusual features in representative examples, we highlight lessons learned in an effort to maximize the full potential of this powerful resource for preclinical studies.
小鼠模型在理解神经疾病的遗传基础、发病机制和治疗开发方面做出了无数贡献。在这里，我们考虑了发育性和癫痫性脑病（DEE）的小鼠遗传模型的现状，这些模型代表了一组罕见但具有破坏性且在很大程度上难以治疗的儿童癫痫。通过检查这个快速发展领域中可用的一系列小鼠品系，并详细描述代表性实例中的预期和不寻常特征，我们强调了从中吸取的经验教训，以最大程度地发挥这一强大资源在临床前研究中的潜力。
