ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy  

作　　者：Yuan-Yuan Hu Wang Song Zhi-Gang Liu Xing-Guang Ye Hong-Wei Zhang Xin Li Jun-Xia Luo Peng-Yu Wang Jie Wang Xiao-Fei Lin Hong-Li Zhu Wei-Ping Liao Bin Li Xu-Qin Chen 

机构地区：[1]Department of Neurology,Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China,Institute of Neuroscience and the Second Affiliated Hospital of Guangzhou Medical University,Chang-gang-dong Road,Guangzhou,510260,China [2]Epilepsy Center and Neurology Department of Children’s Hospital of Soochow University,Suzhou,215000,Jiangsu,China [3]Department of pediatrics,Foshan Women and Children Hospital,Foshan,528000,China [4]Children’s Hospital Affiliated to Shandong University,Jinan,250000,Shandong,China [5]Second Hospital of Shandong University,Jinan,250000,China [6]Huai’an Maternity&Child Healthcare Hospital,Huai’an,223001,China [7]Institute of Neuroscience of Guangzhou Medical University and Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China,Chang-gang-dong Road 250,Guangzhou,510260,Guangdong,China

出　　处：《World Journal of Pediatrics》2024年第8期859-867,共9页世界儿科杂志（英文版）

基　　金：funded by the National Natural Science Foundation of China(Grant No.82301639 to Bin Li,Grant No.82171441 to Xu-Qin Chen,and Grant No.82201609 to Jie Wang).

摘　　要：The ARHGAP4 gene(OMIM*300,023),also known as Rho GTPase activating protein 4,encodes a protein that has an essential role in the regulation of small GTP-binding.ARHGAP4 message RNA(mRNA)is highly expressed during the developing and adult nervous system.At the protein level,ARHGAP4 is exclusively present in certain brain regions,such as the mesial temporal lobe,specifically the stratum lucidum of the CA3 region[1].ARHGAP4 enhances the GTPase activity of Rho proteins,which modulate morphological alterations in neuron development and synaptic plasticity by interacting with the actin cytoskeleton[2].

关 键 词：EPILEPSY alterations STRATUM 

分 类 号：R742.1[医药卫生—神经病学与精神病学]