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It is time to move on: Commentary to: Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery (DOI: 10.1111/bpa.12686).是时候继续前进了：对《皮质发育局灶性畸形中的基因型-表型相关性：癫痫手术综合病理诊断之路》的评论（DOI：10.1111/bpa.12686）
Brain Pathol. 2019 Jul;29(4):467-468. doi: 10.1111/bpa.12714. Epub 2019 Mar 13.
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Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development.以雷帕霉素哺乳动物靶点治疗癫痫性脑病和皮质发育畸形
J Child Neurol. 2018 Jan;33(1):55-63. doi: 10.1177/0883073817696814. Epub 2017 Mar 16.
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Genetic animal models of malformations of cortical development and epilepsy.皮质发育畸形和癫痫的基因动物模型
J Neurosci Methods. 2016 Feb 15;260:73-82. doi: 10.1016/j.jneumeth.2015.04.007. Epub 2015 Apr 21.
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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.PI3K/AKT信号通路突变会导致一系列从巨脑症到局灶性皮质发育异常的脑畸形。
Brain. 2015 Jun;138(Pt 6):1613-28. doi: 10.1093/brain/awv045. Epub 2015 Feb 25.
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GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?癫痫手术患者及其家属的 GATOR1 相关局灶性皮质发育不良：严重程度是否存在梯度？
Eur J Paediatr Neurol. 2021 Jan;30:88-96. doi: 10.1016/j.ejpn.2020.12.001. Epub 2021 Jan 6.
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Epilepsy surgery in children and adolescents with malformations of cortical development--outcome and impact of the new ILAE classification on focal cortical dysplasia.患有皮质发育畸形的儿童和青少年的癫痫手术——新的国际抗癫痫联盟（ILAE）分类对局灶性皮质发育不良的疗效及影响
Epilepsy Res. 2014 Nov;108(9):1652-61. doi: 10.1016/j.eplepsyres.2014.08.012. Epub 2014 Aug 30.
7
Focal brain malformations: seizures, signaling, sequencing.局灶性脑畸形：癫痫发作、信号传导、基因测序
Epilepsia. 2009 Oct;50 Suppl 9:3-8. doi: 10.1111/j.1528-1167.2009.02289.x.
8
Sociodemographic Factors in Pediatric Epilepsy Surgery.儿科癫痫手术中的社会人口学因素。
Pediatr Neurol. 2020 Jun;107:71-76. doi: 10.1016/j.pediatrneurol.2019.09.002. Epub 2019 Sep 10.
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Surgical treatment of intractable epilepsy associated with focal cortical dysplasia.与局灶性皮质发育不良相关的顽固性癫痫的外科治疗
Neurosurg Focus. 2008 Sep;25(3):E6. doi: 10.3171/FOC/2008/25/9/E6.
10
Clinical and immunohistochemical characteristics of type II and type I focal cortical dysplasia.II型和I型局灶性皮质发育不良的临床及免疫组化特征
Oncotarget. 2016 Nov 22;7(47):76415-76422. doi: 10.18632/oncotarget.13001.

引用本文的文献

1
Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb.深度组织病理学基因-表型分析对 II 型局灶性皮质发育不良进行分类，区分了 GATOR1 改变的自噬亚型 IIa 和 MTOR 改变的迁移缺陷亚型 IIb。
Acta Neuropathol Commun. 2023 Nov 9;11(1):179. doi: 10.1186/s40478-023-01675-x.
2
Definitions and classification of malformations of cortical development: practical guidelines.脑皮层发育畸形的定义和分类：实用指南。
Brain. 2020 Oct 1;143(10):2874-2894. doi: 10.1093/brain/awaa174.

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1
Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.基于指南的和生物信息学的局灶性人类癫痫相关基因和变异致病性的重新评估。
Epilepsia. 2018 Nov;59(11):2145-2152. doi: 10.1111/epi.14579. Epub 2018 Oct 20.
2
Review: Challenges in the histopathological classification of ganglioglioma and DNT: microscopic agreement studies and a preliminary genotype-phenotype analysis.综述：神经节神经胶质瘤和 DNT 的组织病理学分类中的挑战：显微镜一致性研究和初步的基因型-表型分析。
Neuropathol Appl Neurobiol. 2019 Feb;45(2):95-107. doi: 10.1111/nan.12522. Epub 2018 Dec 9.
3
BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors.BRAF 体细胞突变有助于小儿脑瘤的内在致痫性。
Nat Med. 2018 Nov;24(11):1662-1668. doi: 10.1038/s41591-018-0172-x. Epub 2018 Sep 17.
4
DNA methylation-based classification of central nervous system tumours.基于 DNA 甲基化的中枢神经系统肿瘤分类。
Nature. 2018 Mar 22;555(7697):469-474. doi: 10.1038/nature26000. Epub 2018 Mar 14.
5
Review: The international consensus classification of Focal Cortical Dysplasia - a critical update 2018.综述：《2018 年局灶性皮质发育不良国际共识分类——关键性更新》。
Neuropathol Appl Neurobiol. 2018 Feb;44(1):18-31. doi: 10.1111/nan.12462.
6
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.体突变激活中脑背侧祖细胞中的 mTOR 通路导致皮质发育不良的连续谱。
Cell Rep. 2017 Dec 26;21(13):3754-3766. doi: 10.1016/j.celrep.2017.11.106.
7
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery.癫痫手术中获取的脑组织的组织病理学发现。
N Engl J Med. 2017 Oct 26;377(17):1648-1656. doi: 10.1056/NEJMoa1703784.
8
Low-grade epilepsy-associated neuroepithelial tumours - the 2016 WHO classification.低级别癫痫相关神经上皮肿瘤——2016 年 WHO 分类。
Nat Rev Neurol. 2016 Dec;12(12):732-740. doi: 10.1038/nrneurol.2016.173. Epub 2016 Nov 18.
9
The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary.2016 年世界卫生组织中枢神经系统肿瘤分类：概述。
Acta Neuropathol. 2016 Jun;131(6):803-20. doi: 10.1007/s00401-016-1545-1. Epub 2016 May 9.
10
Somatic mutations rather than viral infection classify focal cortical dysplasia type II as mTORopathy.体细胞突变而非病毒感染将II型局灶性皮质发育不良归类为mTOR病。
Curr Opin Neurol. 2016 Jun;29(3):388-95. doi: 10.1097/WCO.0000000000000303.

It is time to move on: Commentary to: Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery (DOI: 10.1111/bpa.12686).

作者信息

Blumcke Ingmar

机构信息

Institute of Neuropathology, University Hospitals Erlangen, Erlangen, Germany.

出版信息

Brain Pathol. 2019 Jul;29(4):467-468. doi: 10.1111/bpa.12714. Epub 2019 Mar 13.

DOI:10.1111/bpa.12714
PMID:30868684
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8028411/
Abstract
摘要