Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy

N Engl J Med. 2009 Apr 23;360(17):1792-4. doi: 10.1056/NEJMc0809100.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Blepharoptosis / genetics
  • Diplopia / genetics
  • Epilepsy, Complex Partial / drug therapy
  • Epilepsy, Complex Partial / genetics*
  • Gene Expression
  • Heterozygote
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Membrane Transport Proteins / genetics*
  • Metabolism, Inborn Errors / genetics*
  • Mutation*
  • Nystagmus, Pathologic / genetics
  • Sequence Analysis, DNA
  • Siblings
  • Status Epilepticus / genetics
  • Syndrome
  • Thiamine / administration & dosage
  • Thiamine / metabolism*
  • Wernicke Encephalopathy / drug therapy
  • Wernicke Encephalopathy / genetics*
  • Wernicke Encephalopathy / metabolism

Substances

  • Membrane Transport Proteins
  • SLC19A2 protein, human
  • SLC19A3 protein, human
  • Thiamine