Abstract: Glucose transporter-1 deficiency syndrome (GLUT1-DS) is a rare clinical autosomal dominant genetic disease characterized by early onset age, onset of recurrent convulsions, mental and motor retardation, and good effect of ketogenic diet. A case of GLUT1-DS diagnosed in our hospital was analyzed retrospectively. SLC2A1 gene mutation and the heterozygous shift coding mutation of c.164_165 delins TTCA were found by second-generation sequencing of epileptic gene package. A new mutation was found by gene analysis, which enriched GLUT1-DS gene mutation database. 

Key words: epilepsy, glucose transporter 1 deficiency syndrome, SLC2A1 gene