Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan
- 30 June 2005
- journal article
- case report
- Published by Elsevier in Brain & Development
- Vol. 27 (4) , 311-317
- https://doi.org/10.1016/j.braindev.2004.09.010
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- GLUT1 deficiency and other glucose transporter diseasesActa Endocrinologica, 2004
- EEG Features of Glut‐1 Deficiency SyndromeEpilepsia, 2002
- Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a reviewEuropean Journal of Pediatrics, 2002
- Autosomal dominant Glut‐1 deficiency syndrome and familial epilepsyAnnals of Neurology, 2001
- Autosomal dominant transmission of GLUT1 deficiencyHuman Molecular Genetics, 2001
- Defective Glucose Transport Across Brain Tissue Barriers: A Newly Recognized Neurological SyndromeNeurochemical Research, 1999
- GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrierNature Genetics, 1998
- HepG2/erythrocyte glucose transporter (GLUT1) gene in NIDDM: a population association study and molecular scanning in Japanese subjectsDiabetologia, 1995
- Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental DelayNew England Journal of Medicine, 1991
- Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reactionGenomics, 1989