GLUT1 deficiency syndrome: An update

Short-term effects of ketogenic diet on anthropometric parameters, body fat distribution, and inflammatory cytokine production in GLUT1 deficiency syndrome

“…To date, about 200 patients have been identified in the world mainly in the United States and Europe [17]. The Norway National Registry indicates a point prevalence of 2.6 per 1 million inhabitants [18].…”

PKCs Sweeten Cell Metabolism by Phosphorylation of Glut1

“…Glut1 ( Slc2a1 ), however, is ubiquitously expressed and contributes to both basal and growth factor-stimulated glucose uptake in a wide range of tissues (Wieman et al, 2007). Importantly, mutations in Glut1 lead to Glut1 deficiency syndrome (G1D), a disease characterized by neurologic defects and seizures (Gras et al, 2014). Defects in Glut1 expression or response to growth factor stimulation may contribute to G1D, but the molecular mechanisms that control Glut1 have been poorly understood.…”

Epilepsy genetics: The ongoing revolution

“…Recently and unexpectedly, glucose transporter 1 (GLUT1) deficiency due to autosomal dominant mutations in SLC2A1, was described as an important cause of early-onset absence epilepsy but also as a more rarer cause of IGE, myoclonicatonic epilepsy, focal epilepsy and benign myoclonic epilepsy of infancy [207][208][209][210][211][212], further expanding the wide phenotypic variability of the GLUT1-related syndromes, which were previously described as infantile-onset EE with delayed development (de Vivo syndrome), acquired microcephaly, complex motor disorders, and paroxysmal manifestations including seizures and non-epileptic paroxysmal episodes such as paroxysmal exercise-induced dystonia [213][214][215][216]. This finding offers new perspectives of personalized treatment for individuals with absences or IGE due to SLC2A1 mutations that can be treated with ketogenic diet.…”

“…First being used as research tools, aCGH and NGS are becoming valuable methods for molecular testing in a clinical setting, improving the diagnostic yield in disorders with high genetic heterogeneity, such as the epilepsies [56,151,228,229]. The identification of causative mutations, which is still today achieved efficiently in only a few epileptic syndromes, provides definitive confirmation of the clinical diagnosis, avoiding further investigation, allowing accurate genetic counselling for family members, and sometimes leading to the selection of the appropriate antiepileptic treatment, as illustrated by two cases-reports with a SCN1A mutation [230] or a SLC2A1 mutation [214]. The promise of personalized treatments is also illustrated by recent studies: abnormal gain of function of KCNT1 was shown to be reversed by quinidine [231]; personalized therapy with memantine or topiramate was proposed for two patients with GRIN2A-related EOEE [232,233].…”