title: The many faces of Glut1 deficiency syndrome.
abstract: Glucose transporter protein type 1 deficiency syndrome is a metabolic disorder manifesting as cognitive impairment, acquired microcephaly, epilepsy, and/or movement disorder caused by mutations in the SLC2A1 gene. We describe a cohort of isolated and familial cases of glucose transporter protein type 1 deficiency syndrome, emphasizing seizure semiology, electroencephalographic (EEG) features, treatment response and mutation pathogenicity. SLC2A1 mutations were detected in 3 sporadic and 4 familial cases. In addition, mutations were identified in 9 clinically unaffected family members in 2 families. The phenotypic spectrum of glucose transporter protein type 1 deficiency is wider than previously recognized, with considerable intra-familial variation. Diagnosis requires either hypoglycorrachia followed by SLC2A1 sequencing or direct gene sequencing. A ketogenic diet should be the first line of treatment, but more flexible diets, like the Atkins modified diet, can also be followed. Carbonic anhydrase inhibitors, such as acetazolamide or zonisamide, can be effective for seizure control.
authors: 1Pediatric Neurology Unit, Edmond and Lily Safra Childern's Hospital, Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors: Michal
authors: M
authors: Tzadok
authors: Andreea
authors: A
authors: Nissenkorn
authors: Keren
authors: K
authors: Porper
authors: Israel
authors: I
authors: Matot
authors: Shai
authors: S
authors: Marcu
authors: Yair
authors: Y
authors: Anikster
authors: Shay
authors: S
authors: Menascu
authors: Dani
authors: D
authors: Bercovich
authors: Bruria
authors: B
authors: Ben Zeev
mesh_terms: D000293:Adolescent; D001921:Brain / Q000503:physiopathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D002257:Carbonic Anhydrase Inhibitors / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D055423:Diet, Ketogenic; D004569:Electroencephalography; D005190:Family; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D009004:Monosaccharide Transport Proteins / Q000172:deficiency* / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012640:Seizures / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D055815:Young Adult
chemical_list: D002257:Carbonic Anhydrase Inhibitors; D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human
keywords:   SLC2A1 gene; carbonic anhydrase inhibitors; glucose transporter protein type 1 deficiency syndrome; ketogenic diet