Neuroanatomical correlates of susceptibility in a model of genetic epilepsy

遗传性全面性癫痫(GGE)是最常见的癫痫类型，但我们对其发病机制，尤其是基因突变的解剖学效应的认识还不完全。该项目是对人类GGE突变引起的解剖学变化的第一次定量研究。Pilot数据显示，GGE大脑皮质的基本连接不同，对癫痫的发生有明显的影响。这项研究有望激励改进的治疗和诊断。

Genetic generalized epilepsy (GGE) is the most common form of epilepsy, but our understanding of the pathogenesis, in particular anatomical effects of genetic mutations, is incomplete. This project represents the first quantitative study of anatomical changes caused by a human GGE mutation. Pilot data show that the fundamental wiring of the cortex is different in GGE brains with obvious implications for epileptogenesis. This study is expected to inspire improved treatment and diagnosis.