Generalized dystonia in a patient with a novel mutation in the GLUD1 gene

Mov Disord. 2012 Aug;27(9):1198-9. doi: 10.1002/mds.25081. Epub 2012 Jun 21.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Deep Brain Stimulation
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / therapy
  • Electroencephalography
  • Epilepsy, Tonic-Clonic / etiology
  • Epilepsy, Tonic-Clonic / genetics
  • Female
  • Glutamate Dehydrogenase / genetics*
  • Humans
  • Hyperinsulinism / genetics
  • Mutation
  • Polymerase Chain Reaction

Substances

  • Glutamate Dehydrogenase
  • GLUD1 protein, human