Minassian Berge A
The Hospital for Sick Children, Division of Neurology, Toronto, Canada.
Epileptic Disord. 2016 Sep 1;18(S2):154-158. doi: 10.1684/epd.2016.0862.
While the PME are arguably the severest epilepsies and neurological disorders, the vast majority are monogenic. Additionally, many affect straightforward biochemical pathways. Finally, by definition, they occur in previously healthy and well-developed brains. As such, their therapies should be easier than in complex, albeit often less severe, neurological developmental disorders where the complex, poorly understood, and extremely difficult-to-correct, neural network of the brain is affected. This last article reviews the latest cutting edge technologies in monogenic disease therapy, with some examples provided applicable to a number of disease. It aims to give a sense of where we are and how much closer we are, to the goal of making an actual organic difference.
虽然早发性进行性脑病可以说是最严重的癫痫和神经疾病,但绝大多数是单基因的。此外,许多影响直接的生化途径。最后,根据定义,它们发生在先前健康且发育良好的大脑中。因此,与复杂的、尽管通常不太严重的神经发育障碍相比,它们的治疗应该更容易,在神经发育障碍中,大脑复杂的、了解甚少且极难纠正的神经网络会受到影响。最后一篇文章回顾了单基因疾病治疗中的最新前沿技术,并提供了一些适用于多种疾病的例子。它旨在让人们了解我们目前的状况,以及我们距离实现实际的机体改变目标还有多近。