Section for Translational Epilepsy Research, Department of Neuropathology.
Institute for Experimental Epileptology and Cognition Research, University of Bonn, Bonn, Germany.
Curr Opin Neurol. 2018 Apr;31(2):151-155. doi: 10.1097/WCO.0000000000000531.
Focal cortical dysplasias (FCDs) represent common cortical malformations that are frequently associated with epilepsy. They have so far not been well understood in terms of their molecular pathogenesis, and with respect to mechanisms of seizure emergence.
Several recent studies have succeeded in making significant advances in understanding the molecular genetics, in particular FCD type II. A second major advance has been the development of novel rodent models of FCDs that replicate a somatic mutation seen in humans, lead to a focal lesion, and recapitulate many phenotypic features of human FCDs. We will discuss these recent advances.
These advances promise significant advances in understanding the heterogeneity of FCDs at the molecular genetic level. They also promise a much better understanding of cell-intrinsic and network mechanisms underlying increased seizure susceptibility and altered cognition. Systematic studies utilizing the approaches summarized here promise to lead to specific strategies regarding when and how to treat specific subgroups of FCDs.
局灶性皮质发育不良（FCDs）是常见的皮质畸形，常与癫痫有关。就其分子发病机制和癫痫发作机制而言，目前还没有很好的理解。
最近的几项研究在理解分子遗传学方面取得了重大进展，特别是 FCD Ⅱ型。第二个主要进展是开发了新型的 FCD 啮齿动物模型，该模型复制了人类中存在的体细胞突变，导致局灶性病变，并再现了许多人类 FCD 的表型特征。我们将讨论这些最新进展。
这些进展有望在分子遗传水平上深入了解 FCD 的异质性。它们也有望更好地理解内在细胞和网络机制，这些机制导致癫痫易感性增加和认知改变。利用这里总结的方法进行系统研究，有望为特定亚组的 FCD 何时以及如何治疗提供具体策略。
