GLUT1 deficiency syndrome: an update.

Abstract excerpt

INTRODUCTION: Glucose transporter type 1 deficiency syndrome is caused by heterozygous, mostly de novo, mutations in the SLC2A1 gene encoding the glucose transporter GLUT1. Mutations in this gene limit brain glucose availability and lead to cerebral energy deficiency. STATE OF THE ART: The phenotype is characterized by the variable association of mental retardation, acquired microcephaly, complex motor disorders,...

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