Refractory absence epilepsy associated with GLUT-1 deficiency syndrome

Epilepsia. 2011 May;52(5):1021-4. doi: 10.1111/j.1528-1167.2011.02989.x. Epub 2011 Mar 2.

Abstract

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.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Adolescent
  • Anticonvulsants / therapeutic use
  • Carbohydrate Metabolism, Inborn Errors / epidemiology
  • Carbohydrate Metabolism, Inborn Errors / genetics
  • Child
  • Child, Preschool
  • Comorbidity
  • Drug Resistance
  • Electroencephalography / statistics & numerical data
  • Epilepsy, Absence / drug therapy*
  • Epilepsy, Absence / epidemiology*
  • Glucose Transporter Type 1 / deficiency*
  • Glucose Transporter Type 1 / genetics*
  • Humans
  • Male
  • Microcephaly / epidemiology
  • Microcephaly / genetics
  • Monosaccharide Transport Proteins / deficiency
  • Monosaccharide Transport Proteins / genetics
  • Phenotype

Substances

  • Anticonvulsants
  • Glucose Transporter Type 1
  • Monosaccharide Transport Proteins

Supplementary concepts

  • Glut1 Deficiency Syndrome