Advances of pathological research and classification in malformations of cortical development associated with refractory epilepsy
10.3760/cma.j.cn112151-20240304-00147
- VernacularTitle:难治性癫痫相关皮质发育畸形的病理研究及分类进展
- Author:
Yongjuan FU
1
;
Yueshan PIAO
Author Information
1. 首都医科大学宣武医院病理科 国家神经疾病医学中心 首都医科大学癫痫临床诊疗与研究中心，北京 100053
- Keywords:
Epilepsy;
Malformations of cortical development;
Focal cortical dysplasia;
Pathological classification
- From:
Chinese Journal of Pathology
2024;53(5):419-424
- CountryChina
- Language:Chinese
-
Abstract:
With rapid development of genetic testing techniques, neuroimaging and neuroelectrophysiological technologies, our understanding of malformations of cortical development continues to be deepened and updated. In particular, mutations in genes related to the mammalian target of rapamycin (mTOR) signaling pathway have been successively discovered in focal cortical dysplasia (FCD). At the same time, the classification consensus on FCD issued by the International League Against Epilepsy (ILAE) in 2011 has encountered problems and challenges in diagnostic practice. Therefore, in 2022, ILAE proposed an updated version of the FCD classification based on the progress in molecular genetics over the past decade. The main addition to the classification system is "white matter lesions, " and it is also suggested to integrate histopathological, neuroimaging, and molecular testing results for multi-level integrated diagnosis to achieve reliable, clinically relevant, and therapeutic targeted final diagnosis.
