title: Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.
abstract: Glucose transporter 1 deficiency syndrome (OMIM 606777) is a treatable epileptic encephalopathy caused by mutations in the SLC2A1 gene (OMIM 138140) causing impaired glucose transport into the brain. The classical phenotype is associated with seizures, developmental delay, ataxia and spasticity; however, milder phenotypes are emerging. We describe an 8-year-old boy with glucose transporter 1 deficiency syndrome whose clinical presentation was dominated by hemiplegic migraines that resolved with institution of a modified Atkins diet.
authors.affiliation: Department of Neurosciences, The Royal Children's Hospital, Brisbane, Queensland, Australia; The School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
authors.forename: Shekeeb S
authors.initials: SS
authors.lastname: Mohammad
authors.forename: David
authors.initials: D
authors.lastname: Coman
authors.forename: Sophie
authors.initials: S
authors.lastname: Calvert
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications* / Q000178:diet therapy* / Q000235:genetics; D002648:Child; D050528:Diet, Carbohydrate-Restricted / Q000379:methods; D055423:Diet, Ketogenic / Q000379:methods; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D008297:Male; D008881:Migraine Disorders / Q000178:diet therapy* / Q000235:genetics*; D009004:Monosaccharide Transport Proteins / Q000172:deficiency* / Q000235:genetics; D020125:Mutation, Missense; D016896:Treatment Outcome
chemical_list: D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins
keywords: general paediatrics; metabolic; neurology