Refractory absence epilepsy associated with GLUT-1 deficiency syndrome
Article first published online: 2 MAR 2011
Wiley Periodicals, Inc. © 2011 International League Against Epilepsy
Volume 52, Issue 5, pages 1021–1024, May 2011
How to Cite
Byrne, S., Kearns, J., Carolan, R., Mc Menamin, J., Klepper, J. and Webb, D. (2011), Refractory absence epilepsy associated with GLUT-1 deficiency syndrome. Epilepsia, 52: 1021–1024. doi: 10.1111/j.1528-1167.2011.02989.x
- Issue published online: 11 MAY 2011
- Article first published online: 2 MAR 2011
- Accepted January 6, 2011; Early View publication March 2, 2011.
- Generalized epilepsy;
- Absence seizure;
- GLUT-1 deficiency syndrome;
GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy associated with hypoglycorrhachia, both of whom have genetically confirmed GLUT-1 DS. We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood.