局灶性皮质发育不良：诊断和治疗的最新进展,Expert Review of Neurotherapeutics

摘要

局灶性皮质发育不良（FCDs）是接受手术治疗的小儿耐药局灶性癫痫最常见的病因。FCD 的定位、范围和组织病理学特征差异很大。编码 PI3K-AKTmTOR 通路中蛋白质的基因的体细胞镶嵌突变，其中还包括结节性硬化症相关基因TSC1和TSC2，在相当一部分患者中与 FCD II 型有关。手术是 FCD 相关性癫痫的主要治疗选择。先进的神经生理学和神经影像学技术改善了手术结果并降低了术后缺陷的风险。药理学 MTOR 抑制剂正在临床试验中进行测试，可能代表基于已知疾病机制的癫痫个体化治疗的一个例子，单独使用或与手术结合使用。

这篇综述将批判性地分析 FCD 诊断和治疗的进展，特别关注因更好地了解其病理生理学而引发的新治疗选择。

局灶性皮质发育不良是耐药性癫痫的主要原因，尤其是在儿童中。需要新的、个性化的方法来更有效地治疗 FCD 相关的癫痫及其认知后果。

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ABSTRACT

Focal cortical dysplasias (FCDs) represent the most common etiology in pediatric drug-resistant focal epilepsies undergoing surgical treatment. The localization, extent and histopathological features of FCDs are considerably variable. Somatic mosaic mutations of genes that encode proteins in the PI3K-AKTmTOR pathway, which also includes the tuberous sclerosis associated genes TSC1 and TSC2, have been implicated in FCD type II in a substantial subset of patients. Surgery is the principal therapeutic option for FCD-related epilepsy. Advanced neurophysiological and neuroimaging techniques have improved surgical outcome and reduced the risk of postsurgical deficits. Pharmacological MTOR inhibitors are being tested in clinical trials and might represent an example of personalized treatment of epilepsy based on the known mechanisms of disease, used alone or in combination with surgery.

This review will critically analyze the advances in the diagnosis and treatment of FCDs, with a special focus on the novel therapeutic options prompted by a better understanding of their pathophysiology.

Focal cortical dysplasia is a main cause of drug-resistant epilepsy, especially in children. Novel, personalized approaches are needed to more effectively treat FCD-related epilepsy and its cognitive consequences.