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[Advances of pathological research and classification in malformations of cortical development associated with refractory epilepsy].

Authors :
Fu YJ
Piao YS
Source :
Zhonghua bing li xue za zhi = Chinese journal of pathology [Zhonghua Bing Li Xue Za Zhi] 2024 May 08; Vol. 53 (5), pp. 419-424.
Publication Year :
2024

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.

Details

Language :
Chinese
ISSN :
0529-5807
Volume :
53
Issue :
5
Database :
MEDLINE
Journal :
Zhonghua bing li xue za zhi = Chinese journal of pathology
Publication Type :
Academic Journal
Accession number :
38678320
Full Text :
https://doi.org/10.3760/cma.j.cn112151-20240304-00147