Functional and genomic analyses of novel epilepsy mutations

长期以来，人们一直认为遗传学在许多类型的癫痫中起着重要作用。然而，直到最近几年，才在确定导致癫痫的实际遗传变异方面取得了实质性进展。虽然这是最近的一项重大突破，但了解这些基因变异如何导致癫痫并将其转化为新的治疗方法将需要广泛的进一步工作。这个多学科的项目将通过关注STXBP1基因开始解决这些问题，一个主要的国际科学联盟最近报告说，STXBP1基因是灾难性婴儿癫痫中第二常见的突变基因。我们研究的主要目的是测试STXBP1的突变如何改变单个细胞的功能和携带这些突变的动物的行为，并寻找有助于恢复正常功能和行为的遗传途径。该项目将揭示STXBP1的基因变异如何导致大脑变化，从而导致癫痫。它还可能为治疗灾难性的婴儿癫痫以及可能更常见的癫痫形式提供新的治疗方法。

Genetics has long been recognised to play an important role in many types of epilepsy. However, it is only in the last few years that substantial progress has been made in identifying the actual genetic variations that cause epilepsy. Although this is a major recent breakthrough, understanding how these genetic variations contribute to epilepsy and translating this into new treatments will require extensive further work. This multi-disciplinary project will begin to address these issues by focusing on the STXBP1 gene, which a major international scientific consortium has recently reported to be the second most commonly mutated gene in catastrophic infantile epilepsies. The principal aims of our research are to test how mutations in STXBP1 change the function of individual cells and the behaviour of animals that carry those mutations and to search for genetic pathways that can help to restore normal function and behaviour. This project will reveal how genetic variations in STXBP1 cause changes in the brain that lead to epilepsy. It may also suggest new therapeutic approaches for the treatment of catastrophic infantile epilepsies and perhaps more common forms of epilepsy.