[Pyridoxine-dependent epilepsy due to deficiency in the PNPO gene]

Rev Neurol. 2019 Oct 1;69(7):303-304. doi: 10.33588/rn.6907.2019084.
[Article in Spanish]

Abstract

Epilepsia dependiente de piridoxina por deficiencia en el gen PNPO.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Brain Diseases, Metabolic / genetics*
  • Chromosomes, Human, Pair 17 / genetics*
  • Epilepsy / cerebrospinal fluid
  • Epilepsy / drug therapy
  • Epilepsy / genetics*
  • Female
  • Humans
  • Hypoxia-Ischemia, Brain / genetics*
  • Mutation, Missense*
  • Polymorphism, Single Nucleotide
  • Pyridoxaminephosphate Oxidase / deficiency*
  • Pyridoxaminephosphate Oxidase / genetics
  • Pyridoxine / therapeutic use
  • Seizures / genetics*
  • Tetrahydrofolates / cerebrospinal fluid
  • Uniparental Disomy*

Substances

  • Tetrahydrofolates
  • Pyridoxaminephosphate Oxidase
  • Pyridoxine
  • 5-methyltetrahydrofolate

Supplementary concepts

  • Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
  • Pyridoxine-dependent epilepsy