Retinoencephalopathy with occipital lobe epilepsy in an OPA-1 mutation carrier

Seizure. 2019 Mar;66:1-3. doi: 10.1016/j.seizure.2019.01.029. Epub 2019 Jan 30.
No abstract available

Keywords: Mitochondrial retinoencephalopathy; OPA-1; Occipital lobe epilepsy.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Epilepsies, Partial / diagnosis*
  • Epilepsies, Partial / genetics
  • GTP Phosphohydrolases / genetics*
  • Heterozygote
  • Humans
  • Male
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics
  • Retinal Diseases / diagnosis*
  • Retinal Diseases / genetics

Substances

  • GTP Phosphohydrolases
  • OPA1 protein, human