DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation

BackgroundThe DLG3 gene encodes disks large membrane-associated guanylate kinase scaffold protein 3, which plays essential roles in the clustering of N-methyl-D-aspartate receptors (NMDARs) at excitatory synapses. Previously, DLG3 has been identified as the causative gene of X-linked intellectual de...

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Ngā kaituhi matua:	Yun-Yan He, Sheng Luo, Liang Jin, Peng-Yu Wang, Jie Xu, Hong-Liang Jiao, Hong-Jun Yan, Yao Wang, Qiong-Xiang Zhai, Jing-Jing Ji, Weng-Jun Zhang, Peng Zhou, Hua Li, Wei-Ping Liao, Song Lan, Lin Xu
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	Frontiers Media S.A. 2024-01-01
Rangatū:	Frontiers in Molecular Neuroscience
Ngā marau:	DLG3 gene epilepsy neurodevelopmental disorder variants Genotype-phenotype correlation
Urunga tuihono:	https://www.frontiersin.org/articles/10.3389/fnmol.2023.1290919/full
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