Neuroinflammation is a major theme in epilepsy, which has been characterized in acquired epilepsy but is poorly understood in genetic epilepsy. γ‐Aminobutyric acid type A receptor subunit gene mutations are significant causes of epilepsy, and we have studied the pathophysiology directly resulting from defective receptor channels. Here, we determined the proinflammatory factors in a genetic mouse model, the Gabrg2+/Q390X knockin (KI). We have identified increased cytokines in multiple brain regions of the KI mouse throughout different developmental stages and propose that accumulation of the trafficking‐deficient mutant protein may increase neuroinflammation, which would be a novel mechanism for genetic epilepsy.

中文翻译：

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内质网应激增加癫痫小鼠模型中的炎性细胞因子 Gabrg2 +/Q390X 敲入：遗传性癫痫与获得性癫痫之间的联系？

神经炎症是癫痫的一个主要主题，它在获得性癫痫中具有特征，但在遗传性癫痫中却知之甚少。γ-氨基丁酸A型受体亚基基因突变是癫痫的重要原因，我们研究了受体通道缺陷直接导致的病理生理学。在这里，我们确定了遗传小鼠模型中的促炎因子，即 Gabrg2+/Q390X 敲入 (KI)。我们已经确定 KI 小鼠的多个脑区在不同发育阶段的细胞因子增加，并提出运输缺陷突变蛋白的积累可能会增加神经炎症，这将是遗传性癫痫的一种新机制。