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

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成果类型：

期刊论文

作者：

He, Yun-Yan;Luo, Sheng;Jin, Liang;Wang, Peng-Yu;Xu, Jie;...

通讯作者：

Xu, L;Lan, S

作者机构：

[Xu, Lin; Xu, L; He, Yun-Yan] Qingdao Univ, Qingdao Women & Childrens Hosp, Dept Radiol, Qingdao, Peoples R China.

[Jin, Liang; Zhang, Weng-Jun; Liao, Wei-Ping; Luo, Sheng; Zhou, Peng; He, Yun-Yan; Ji, Jing-Jing; Xu, Jie; Wang, Peng-Yu] Guangzhou Med Univ, Affiliated Hosp 2, Key Lab Neurogenet & Channelopathies Guangdong Pro, Dept Neurol,Inst Neurosci, Guangzhou, Peoples R China.

[Jin, Liang; Zhang, Weng-Jun; Liao, Wei-Ping; China Epilepsy Gene 1 0 Project; Luo, Sheng; Zhou, Peng; He, Yun-Yan; Ji, Jing-Jing; Xu, Jie; Wang, Peng-Yu] Guangzhou Med Univ, Affiliated Hosp 2, Minist Educ China, Guangzhou, Peoples R China.

[Jin, Liang] Univ South China, Affiliated Nanhua Hosp, Hengyang Med Sch, Dept Neurol, Hengyang, Peoples R China.

[Jiao, Hong-Liang] Zhengzhou Univ, Affiliated Hosp 1, Dept Neurosurg, Zhengzhou, Peoples R China.

通讯机构：

[Lan, S ] M

[Xu, L ] Q

Qingdao Univ, Qingdao Women & Childrens Hosp, Dept Radiol, Qingdao, Peoples R China.

Maoming Peoples Hosp, Dept Neurol, Maoming, Peoples R China.

语种：

英文

关键词：

DLG3 gene;Genotype-phenotype correlation;epilepsy;neurodevelopmental disorder;variants

期刊：

FRONTIERS IN MOLECULAR NEUROSCIENCE

ISSN：

1662-5099

年：

2024

卷：

页码：

1290919

DOI：

10.3389/fnmol.2023.1290919

基金类别：

Talent Training Fund of the Women and Children's Hospital; Qingdao University

机构署名：

本校为其他机构

院系归属：

医学院

摘要：

BACKGROUND: The 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 developmental disorder-90 (XLID-90; OMIM# 300850). This study aims to explore the phenotypic spectrum of DLG3 and the genotype-phenotype correlation. METHODS: Trios-based whole-exome sequencing was performed in patients with epilepsy of unknown causes. To analyze the genotype-phenotype correlations,...

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

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