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ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy 被引量:1
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作者 Yuan-Yuan Hu Wang Song +11 位作者 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 《World Journal of Pediatrics》 SCIE CSCD 2024年第8期859-867,共9页
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 ... 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]. 展开更多
关键词 EPILEPSY alterations STRATUM
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