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

Gene. 2024 Nov 30:928:148762. doi: 10.1016/j.gene.2024.148762. Epub 2024 Jul 14.

¹ 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.
² 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: [email protected].
³ 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: [email protected].
⁴ 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: [email protected].

No abstract available

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

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