Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child

Acta Neurol Belg. 2020 Jun;120(3):733-735. doi: 10.1007/s13760-019-01242-z. Epub 2019 Nov 22.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Age of Onset
  • Brain Diseases / diagnostic imaging*
  • Brain Diseases / genetics*
  • Child, Preschool
  • Disease Progression*
  • Fatal Outcome
  • Genetic Variation / genetics*
  • Humans
  • Male
  • Racemases and Epimerases / genetics*
  • Turkey

Substances

  • NAXE protein, human
  • Racemases and Epimerases