A novel duplication mutation of SLC2A1 gene causing glucose transporter 1 deficiency syndrome.

Huang, Chaoyu; Huang, Yunhua; Pan, Liqiu; Li, Linlin; Ling, Xiaoting; Wang, Chenghan; Xiao, Qingxing; Zhai, Ningneng; Long, Yan; Mo, Wuning; Lin, Faquan; Huang, Yifang

Huang, Chaoyu; Huang, Yunhua; Pan, Liqiu; Li, Linlin; Ling, Xiaoting; Wang, Chenghan; Xiao, Qingxing; Zhai, Ningneng; Long, Yan; Mo, Wuning; Lin, Faquan; Huang, Yifang.

Afiliação

Huang C; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China.
Huang Y; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China.
Pan L; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China.
Li L; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China.
Ling X; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China.
Wang C; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China.
Xiao Q; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China.
Zhai N; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China.
Long Y; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China.
Mo W; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China. Electronic address: mown16300@126.com.
Lin F; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China. Electronic address: fqlin1998@163.com.
Huang Y; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China. Electronic address: YFY004462@sr.gxmu.edu.cn.

Gene ; 928: 148762, 2024 Nov 30.

Article em En | MEDLINE | ID: mdl-39009233

Assuntos

Erros Inatos do Metabolismo dos Carboidratos; Duplicação Gênica; Transportador de Glucose Tipo 1; Humanos; Transportador de Glucose Tipo 1/genética; Transportador de Glucose Tipo 1/deficiência; Erros Inatos do Metabolismo dos Carboidratos/genética; Masculino; Mutação; Feminino; Proteínas de Transporte de Monossacarídeos/genética; Proteínas de Transporte de Monossacarídeos/deficiência

Palavras-chave

Childhood absence epilepsy; Frameshift mutation; Glucose transporter type 1; Glut1 deficiency syndrome; SLC2A1

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Erros Inatos do Metabolismo dos Carboidratos / Duplicação Gênica / Transportador de Glucose Tipo 1 Limite: Female / Humans / Male Idioma: En Revista: Gene Ano de publicação: 2024 Tipo de documento: Article

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