[与难治性癫痫相关的皮质发育畸形的病理研究和分类进展]。

Y J Fu, Y S Piao
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引用次数: 0

摘要

随着基因检测技术、神经影像学和神经电生理学技术的快速发展,我们对大脑皮层发育畸形的认识也在不断加深和更新。尤其是在局灶性皮质发育不良(FCD)中相继发现了哺乳动物雷帕霉素靶蛋白(mTOR)信号通路相关基因的突变。与此同时,国际抗癫痫联盟(ILAE)于2011年发布的FCD分类共识在诊断实践中也遇到了问题和挑战。因此,在 2022 年,ILAE 根据过去十年分子遗传学的进展,提出了 FCD 分类的更新版本。该分类系统主要增加了 "白质病变",并建议整合组织病理学、神经影像学和分子检测结果进行多层次综合诊断,以实现可靠、临床相关和有治疗针对性的最终诊断。
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[Advances of pathological research and classification in malformations of cortical development associated with refractory epilepsy].

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.

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来源期刊
中华病理学杂志
中华病理学杂志 Medicine-Medicine (all)
CiteScore
1.00
自引率
0.00%
发文量
10377
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