title: Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.
abstract: A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.
authors.affiliation: Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Takahashi
authors.affiliation: Department of Pediatrics, National Hospital Organization Minami Kyushu Hospital, Kagoshima, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Matsufuji
authors.affiliation: Department of Pediatrics, National Hospital Organization Minami Kyushu Hospital, Kagoshima, Japan.
authors.forename: C
authors.initials: C
authors.lastname: Yonee
authors.affiliation: Department of Pediatrics, National Hospital Organization Minami Kyushu Hospital, Kagoshima, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Tsuru
authors.affiliation: Department of Pediatrics, National Hospital Organization Minami Kyushu Hospital, Kagoshima, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Sano
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Oguni
mesh_terms: D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005817:Genetic Counseling; D051272:Glucose Transporter Type 1 / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000172:deficiency* / Q000235:genetics; D009030:Mosaicism; D009154:Mutation; D010375:Pedigree
chemical_list: D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human