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[Analysis of clinical features and PAK1 gene variant in a child with epilepsy and global developmental delay].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2023

Yuan Meng, Zhang Jia, Li Yang, Luo Huan, Zhang Jinxiu, Gan Jing

Abstract excerpt

OBJECTIVE: To investigate the clinical phenotype and genetic basis of a child with epilepsy and global developmental delay. METHODS: A child with epilepsy and global developmental delay who had visited West China Second University Hospital, Sichuan University on April 1, 2021 was selected as the study subject. Clinical data of the child were reviewed. Genomic DNA was extracted from peripheral blood samples of the...

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Identifiers

PMID: 37102288
DOI: 10.3760/cma.j.cn511374-20220815-00546

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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