title: First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene.
abstract: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is increasingly recognized as a cause of various neurological disorders but a high index of suspicion is important to make the diagnosis. We report two Chinese patients with GLUT1DS, one of which had a novel mutation in the SLC2A1 gene.
authors.affiliation: Department of Paediatrics, The Chinese University of Hong Kong, China. eva_fung@cuhk.edu.hk
authors.forename: Eva Lai-wah
authors.initials: EL
authors.lastname: Fung
authors.forename: Yuan Yuan
authors.initials: YY
authors.lastname: Ho
authors.forename: Joannie
authors.initials: J
authors.lastname: Hui
authors.forename: Jack Ho
authors.initials: JH
authors.lastname: Wong
authors.forename: Tzi-Bun
authors.initials: TB
authors.lastname: Ng
authors.forename: Nga-Yin Fion
authors.initials: NY
authors.lastname: Fong
authors.forename: Joerg
authors.initials: J
authors.lastname: Klepper
authors.forename: Kwok-Wing Stephen
authors.initials: KW
authors.lastname: Tsui
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D001786:Blood Glucose / Q000378:metabolism; D002239:Carbohydrate Metabolism, Inborn Errors / Q000178:diet therapy / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D055423:Diet, Ketogenic / Q000379:methods; D005260:Female; D005947:Glucose / Q000134:cerebrospinal fluid; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics*; D006151:Guanosine / Q000031:analogs & derivatives / Q000378:metabolism; D006801:Humans; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000172:deficiency / Q000235:genetics; D009154:Mutation / Q000235:genetics*
chemical_list: D001786:Blood Glucose; D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human; C037626:3'-O-methylguanosine; D006151:Guanosine; D005947:Glucose