Teaching NeuroImages: Subacute encephalopathy in a young woman with THTR2 gene mutation

Neurology. 2015 Oct 6;85(14):e108-9. doi: 10.1212/WNL.0000000000002002.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology*
  • Brain Diseases / diagnosis
  • Brain Diseases / drug therapy*
  • Brain Diseases / genetics*
  • Female
  • Humans
  • Membrane Transport Proteins / genetics*
  • Mutation / genetics*
  • Thiamine / administration & dosage
  • Thiamine / therapeutic use
  • Treatment Outcome
  • Young Adult

Substances

  • Membrane Transport Proteins
  • SLC19A3 protein, human
  • Thiamine