Glucose transporter 1 deficiency syndrome (GLUT1-DS,) was first reported by De Vivo in 1991 and since then hundreds of cases have been reported internationally. children with the disease. The manifestations of this disease are complex and varied, and are classified into classic and atypical according to clinical manifestations. The classic children present with infantile onset refractory epilepsy, moderate to severe developmental delay and acquired microcephaly, as well as lethargy, mild hemiparesis and ataxia. Among them, seizures starting before 2 years of age are early onset and seizures starting after 2 years of age are late onset. Patients with atypical glucose transporter 1 deficiency syndrome present with mental retardation, persistent or paroxysmal movement disorders, including ataxia, chorea, and dystonia, without seizures, and the onset and exacerbation of symptoms are mostly associated with hunger and exertion. Reduced cerebrospinal fluid glucose levels but normal blood glucose, and reduced cerebrospinal fluid sugar to blood glucose ratio are important clinical screening indicators for glucose transporter 1 deficiency syndrome. Glucose transporter 1 deficiency syndrome is autosomal dominant, but familial cases are rare and mostly disseminated. The causative gene is SLC2A1, which encodes the protein Glucose transporter 1 (GLUT1) expressed in brain capillaries, glial cells and erythrocyte membranes, and has a role in transporting glucose across the blood-brain barrier and erythrocyte membranes. Mutations in the SLC2A1 gene result in reduced or partial loss of glucose transporter 1 expression and the inability of glucose to cross the blood-brain barrier effectively, resulting in a lack of energy supply to brain tissue and a range of neurological symptoms. Glucose transporter 1 deficiency syndrome is a treatable neurological disorder, and the ketogenic diet is the most effective treatment for this disease, providing the brain with alternative “energy” ketone bodies, relieving clinical symptoms and significantly improving the prognosis of patients. Treatment with the antioxidant lipoic acid may be effective, but further research is needed. Caffeine and phenobarbital may inhibit the function of glucose transporters and should be avoided. Due to the lack of previous knowledge about this disease, patients are often diagnosed with epilepsy and treated with various antiepileptic drugs, but most of the antiepileptic drugs are not effective for this disease, and children with seizures that are difficult to control have progressive impairment of intellectual motor and poor prognosis. Therefore, it is especially important to improve the prognosis of patients by raising awareness of the disease and making early diagnosis and treatment.