20 years of GLUT1 Deficiency: where are we today?

Abstract

In 1991 the first two patients with GLUT1 Deficiency were described. In 2011 over 100 patients are known worldwide. The disease has been recognized as an epileptic encephalopathy in children treatable with the ketogenic diet. Phenotype and genotype have become increasingly complex: mutations with sporadic, autosomal dominant, and autosomal recessive transmission as well as several hot spots in the SLC2A1 gene have been described. Recent years have seen the description of paroxysmal exertion-induced dystonia (PED), atypical absences, and non-epileptic paroxysmal events as a manifestation of GLUT1 Deficiency. Several animal models exist and the therapy knows several ketogenic diets. With the transmission of patients into adulthood long-term results are available. International parent support groups are active. Among future challenges will be patient registries, disease classifications, genotype-phenotype correlations and alternative treatment strategies.