Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency

Neurology. 2014 Jul 15;83(3):e41-4. doi: 10.1212/WNL.0000000000000591.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Child, Preschool
  • Developmental Disabilities / drug therapy
  • Developmental Disabilities / enzymology
  • Developmental Disabilities / genetics*
  • Epilepsy / drug therapy
  • Epilepsy / enzymology
  • Epilepsy / genetics
  • Female
  • Genetic Variation
  • Heterozygote
  • Homocystinuria / drug therapy
  • Homocystinuria / enzymology
  • Homocystinuria / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / deficiency*
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Muscle Spasticity / drug therapy
  • Muscle Spasticity / enzymology
  • Muscle Spasticity / genetics*
  • Mutation
  • Pedigree
  • Psychotic Disorders / drug therapy
  • Psychotic Disorders / enzymology
  • Psychotic Disorders / genetics
  • Severity of Illness Index

Substances

  • Methylenetetrahydrofolate Reductase (NADPH2)

Supplementary concepts

  • Methylenetetrahydrofolate reductase deficiency