Visual-sensitive epilepsy in GLUT-1 deficiency syndrome: Expanding the phenotype

Epileptic Disord. 2023 Apr;25(2):265-268. doi: 10.1002/epd2.20008. Epub 2023 May 4.
No abstract available

Keywords: GLUT‐1 deficiency syndrome; hypoglycorrhachia; next generation sequencing; reflex photosensitive epilepsy.

Publication types

  • Case Reports

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors* / complications
  • Carbohydrate Metabolism, Inborn Errors* / diagnosis
  • Carbohydrate Metabolism, Inborn Errors* / genetics
  • Epilepsy* / genetics
  • Humans
  • Monosaccharide Transport Proteins / deficiency
  • Phenotype
  • Seizures

Supplementary concepts

  • Glut1 Deficiency Syndrome