发作性运动诱发性运动障碍(Paroxysmal Kinesigenic Dyskinesia,PKD)是一组具有临床和遗传异质性疾病，以突然运动诱发的非随意运动障碍为特征，其发病与PRRT2、SCN8A、KCNMA1、SLC2A1、PNKD、KCNA1、DEPDC5和GRID2IP等基因相关。GRID2IP与谷氨酸受体GRID2具有相互作用；PRRT2通过胞吐复合体SNARE影响神经突触递质释放，调节谷氨酸信号通路。课题组已经证明GRID2IP与PRRT2之间具有相互作用，并推测GRID2IP在PKD的神经递质信号通路中起着重要的作用。前期已经完成GRID2IP基因敲除小鼠，人皮肤成纤维细胞诱导的iPS细胞等，本课题通过对动物模型的评估，高效液相色谱、RNA高通量测序和差异表达分析、脑深部碳纤电极活体记录、神经递质释放和摄取试验以明确GRID2IP在PKD的神经递质信号通路中的作用。

Paroxysmal kinesigenic dyskinesia (PKD) is a group of clinically and hereditary heterogeneity disorders with sudden movement-induced involuntary movement disorders as the main clinical features. The pathogenesis of PKD is related to PRRT2, SCN8A, KCNMA1, SLC2A1, DEPDC5, GRID2IP and other genes. GRID2IP interacts with glutamate receptor GRID2 while PRRT2 also regulates glutamate signaling by inflecting the release of neurotransmitter neurotransmitters via the SNARE complex of exocytosis. Our group has demonstrated that GRID2IP interacts with PRRT2 and we speculated that GRID2IP plays an important role in the neurotransmitter signaling pathway of PKD. In previous research, we have accomplished the GRID2IP knockout mice and human skin fibroblast-induced iPS cells. And the present study aims to clarify the role of GRID2IP in the neurotransmitter signaling pathway of PKD through the animal model assessment, high performance liquid chromatography, high-throughput RNA sequencing and differential expression analysis, recording of deep brain carbon electrode in vivo and assays of neurotransmitter release and uptake. The project would provide the basis for further elucidation of the pathogenesis of PRRT2 Related Disorders.