Epilepsy Research Center of PLA, Department of Neurosurgery, Xinqiao Hospital, Army Medical University, Chongqing, China.
Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Brain Res Bull. 2021 Mar;168:36-44. doi: 10.1016/j.brainresbull.2020.11.023. Epub 2020 Dec 4.
Focal cortical dysplasias (FCDs) are well recognized as important causes of medically intractable epilepsy in both children and adults. To explore the potential role of fibroblast growth factor 13 (FGF13) in intractable epilepsy caused by FCDs, we examined the expression of FGF13 in cortical lesions from 23 patients with FCD type Ia (FCDIa), 24 patients with FCD type IIa (FCDIIa), and 12 patients with FCD type IIb (FCDIIb), and we compared the results with the FGF13 expression levels in control cortex (CTX) brain tissues from 12 nonepileptic normal subjects. Both the mRNA levels and protein levels of FGF13 were significantly higher in the cortical lesions from patients with FCD than in the control cortices. The immunohistochemical results showed that strong FGF13 immunoreactivity was observed in misshapen cells, including neuronal microcolumns, hypertrophic neurons, dysmorphic neurons, and most balloon cells. Moreover, double-label immunofluorescence analyses confirmed that FGF13 was mainly localized in neurons and nearly absent in glia-like cells. Taken together, our results suggest that the overexpression of FGF13 in FCDs and the cell-specific distribution patterns of FGF13 in misshapen neurons in FCDs could potentially contribute to intractable epilepsy caused by FCDs.
局灶性皮质发育不良（FCD）是儿童和成人药物难治性癫痫的重要病因。为了探究成纤维细胞生长因子 13（FGF13）在 FCD 引起的药物难治性癫痫中的潜在作用，我们检测了 23 例 FCDIa、24 例 FCDIIa 和 12 例 FCDIIb 患者的皮质病变中 FGF13 的表达情况，并与 12 例非癫痫正常对照的 FGF13 表达水平进行了比较。结果显示，FCD 患者皮质病变中的 FGF13 mRNA 水平和蛋白水平均显著高于对照组。免疫组化结果显示，畸形细胞（包括神经元微柱、肥大神经元、畸形神经元和大多数气球样细胞）中可见强 FGF13 免疫反应。此外，双标免疫荧光分析证实 FGF13 主要定位于神经元，而在神经胶质样细胞中几乎不存在。综上所述，FCD 中 FGF13 的过度表达以及 FGF13 在 FCD 畸形神经元中的细胞特异性分布模式可能导致 FCD 引起的药物难治性癫痫。
