Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations

Epilepsy Behav. 2018 Feb:79:169-173. doi: 10.1016/j.yebeh.2017.12.012. Epub 2018 Jan 4.
No abstract available

Keywords: Epilepsy; Glucose transporter type I deficiency syndrome; Nonepileptic paroxysmal phenomena; SLC2A1 mutation.

MeSH terms

  • Adult
  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • Epilepsy, Generalized / complications*
  • Epilepsy, Generalized / genetics*
  • Female
  • Genetic Variation / genetics*
  • Glucose Transporter Type 1 / genetics*
  • Humans
  • Male
  • Monosaccharide Transport Proteins / deficiency*
  • Monosaccharide Transport Proteins / genetics
  • Mutation
  • Phenotype
  • Seizures / etiology*

Substances

  • Glucose Transporter Type 1
  • Monosaccharide Transport Proteins
  • SLC2A1 protein, human

Supplementary concepts

  • Glut1 Deficiency Syndrome