Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1
Top Cited Papers
- 13 April 2009
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 66 (3) , 415-419
- https://doi.org/10.1002/ana.21724
Abstract
Absence epilepsies of childhood are heterogeneous with most cases following complex inheritance. Those cases with onset before 4 years of age represent a poorly studied subset. We screened 34 patients with early‐onset absence epilepsy for mutations in SLC2A1, the gene encoding the GLUT1 glucose transporter. Mutations leading to reduced protein function were found in 12% (4/34) of patients. Two mutations arose de novo, and two were familial. These findings suggest GLUT1 deficiency underlies a significant proportion of early‐onset absence epilepsy, which has both genetic counseling and treatment implications because the ketogenic diet is effective in GLUT1 deficiency. Ann Neurol 2009;66:415–419Keywords
This publication has 18 references indexed in Scilit:
- Glut‐1 deficiency syndrome masquerading as idiopathic generalized epilepsyEpilepsia, 2008
- Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1Brain, 2008
- GLUT1 deficiency syndrome – 2007 updateDevelopmental Medicine and Child Neurology, 2007
- Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitroMolecular Genetics and Metabolism, 2007
- Electroclinical features of absence seizures in childhood absence epilepsyNeurology, 2006
- Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic dietMovement Disorders, 2006
- Autosomal dominant Glut‐1 deficiency syndrome and familial epilepsyAnnals of Neurology, 2001
- GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrierNature Genetics, 1998
- Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental DelayNew England Journal of Medicine, 1991
- Sequence and Structure of a Human Glucose TransporterScience, 1985