Article
[Analysis of clinical phenotype and variant of SLC2A1 gene in a Chinese pedigree affected with glucose transporter 1 deficiency syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2022
Li Zhen, Han Changming, Chen Guowei, Zhao Hongwei
Abstract excerpt
OBJECTIVE: To analyze the clinical phenotype and variant of SLC2A1 gene in a Chinese pedigree affected with glucose transporter type 1 deficiency syndrome (GLUT1-DS). METHODS: Clinical data of a child who was treated due to delayed motor and language development and his family members were collected. DNA was extracted from peripheral blood samples and subjected to high-throughput medical exome sequencing....
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