The role of SLC2A1 in early onset and childhood absence epilepsies

Epilepsy Res. 2013 Jul;105(1-2):229-33. doi: 10.1016/j.eplepsyres.2012.11.004. Epub 2013 Jan 8.

Abstract

Early Onset Absence Epilepsy constitutes an Idiopathic Generalized Epilepsy with absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter, account for approximately 10% of EOAE cases. The role of SLC2A1 mutations in absence epilepsies with a later onset has not been assessed. We found two mutation carriers in 26 EOAE patients, while no mutations were found in 124 probands affected by CAE or JAE.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age of Onset
  • Base Sequence
  • Cohort Studies
  • Early Diagnosis
  • Epilepsy, Absence / diagnosis
  • Epilepsy, Absence / epidemiology*
  • Epilepsy, Absence / genetics*
  • Female
  • Genetic Carrier Screening
  • Glucose Transporter Type 1 / genetics
  • Glucose Transporter Type 1 / physiology*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Young Adult

Substances

  • Glucose Transporter Type 1
  • SLC2A1 protein, human