Absence of SLC2A1 mutations does not exclude glut1 deficiency syndrome

Neuropediatrics

Volumn 44, Issue 4, 2013, Pages 235-236

  Klepper, Joerg ^a  

^a Childrens' Hospital Aschaffenburg   (Germany)

Author keywords

glut1 deficiency; ketogenic diet; SLC2A1

Indexed keywords

GLUCOSE TRANSPORTER 1;

ABSENCE; BRAIN DISEASE; DYSTONIA; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HUMAN; KETOGENIC DIET; LUMBAR PUNCTURE; MISSENSE MUTATION; MOTOR DYSFUNCTION; MYOCLONIC ASTATIC EPILEPSY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REVIEW;

CARBOHYDRATE METABOLISM, INBORN ERRORS; GENETIC PREDISPOSITION TO DISEASE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION;

EID: 84880325593     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0033-1336015     Document Type: Review

References (6)

1. Klepper J., Leiendecker B. GLUT1 deficiency syndrome-2007 update. Dev Med Child Neurol: 2007; 49 9 707 716
2. Yang H., Wang D., Engelstad K., et al. Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol: 2011; 70 6 996 1005
3. Mullen S. A., Suls A., De Jonghe P., Berkovic S. F., Scheffer I. E. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology: 2010; 75 5 432 440
4. Fujii T., Morimoto M., Yoshioka H., et al. T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake. Brain Dev: 2011; 33 4 316 320
5. Wang D., Pascual J. M., De Vivo D. Glucose transporter type deficiency syndrome. In: Pagon R. A., Bird T. C., Dolan C. R., Stephens K., eds. Gene Reviews. Seattle, WA University of Washington, Seattle, Washington: 1993; -2013
6. Carruthers A., DeZutter J., Ganguly A., Devaskar S. U. Will the original glucose transporter isoform please stand up! Am J Physiol Endocrinol Metab: 2009; 297 4 E836 E848