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[Advances of pathological research and classification in malformations of cortical development associated with refractory epilepsy].
- 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.
- Subjects :
- Humans
Drug Resistant Epilepsy pathology
Drug Resistant Epilepsy genetics
Mutation
Cerebral Cortex pathology
Cerebral Cortex diagnostic imaging
Cerebral Cortex metabolism
White Matter pathology
White Matter diagnostic imaging
Neuroimaging methods
Malformations of Cortical Development genetics
Malformations of Cortical Development pathology
Malformations of Cortical Development diagnostic imaging
TOR Serine-Threonine Kinases metabolism
TOR Serine-Threonine Kinases genetics
Subjects
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