Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation

Indian J Pediatr. 2018 Sep;85(9):812-813. doi: 10.1007/s12098-018-2671-7. Epub 2018 Mar 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Drug Resistant Epilepsy / diagnosis*
  • Humans
  • Movement Disorders / diagnosis
  • Movement Disorders / genetics
  • Mutation*
  • Neurotransmitter Agents
  • Phenylketonurias / diagnosis*
  • Phenylketonurias / genetics

Substances

  • Neurotransmitter Agents