Clinical and genetic characteristics of glucose transporter 1 deficiency syndrome in a large cohort of Chinese patients

Abstract excerpt

BACKGROUND: Mutations in the SLC2A1 gene cause glucose transporter type 1 deficiency syndrome (Glut1DS). This study aimed to investigate the clinical and molecular genetics characteristics of Chinese patients with Glut1DS. METHODS: The clinical data of patients with Glut1DS were analyzed retrospectively. SLC2A1 mutation analysis was performed using Sanger sequencing or next-generation sequencing (NGS). Multiplex...

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