Malformations of cortical development (MCD) include a heterogeneous spectrum of clinical, imaging, molecular and histopathological entities. While the understanding of genetic causes of MCD has improved with the availability of next-generation sequencing modalities, genotype-histopathological correlations remain limited. This is the first systematic review of molecular and neuropathological findings in patients with MCD to provide a comprehensive overview of the literature.

中文翻译：

---

遗传定义的皮质发育畸形的神经病理学——系统文献综述

皮质发育畸形 (MCD) 包括临床、影像学、分子和组织病理学实体的异质谱。虽然随着下一代测序方式的出现，对 MCD 遗传原因的理解有所提高，但基因型-组织病理学相关性仍然有限。这是第一次对 MCD 患者的分子和神经病理学发现进行系统评价，以提供对文献的全面概述。