Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency

Neurology. 2007 Apr 17;68(16):1320-1. doi: 10.1212/01.wnl.0000259537.54082.6d.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain / drug effects*
  • Brain / enzymology
  • Brain / physiopathology
  • Brain Diseases, Metabolic / complications*
  • Brain Diseases, Metabolic / enzymology
  • Brain Diseases, Metabolic / physiopathology
  • Dystonic Disorders / drug therapy*
  • Dystonic Disorders / enzymology
  • Dystonic Disorders / etiology*
  • Epilepsy / enzymology
  • Epilepsy / etiology
  • Extremities / physiopathology
  • GABA Agents / therapeutic use
  • Gene Expression Regulation, Enzymologic
  • Humans
  • Hydroxybutyrates / metabolism
  • Intellectual Disability / enzymology
  • Intellectual Disability / etiology
  • Italy
  • Male
  • Muscle, Skeletal / innervation
  • Muscle, Skeletal / physiopathology
  • Mutation, Missense / genetics
  • Succinate-Semialdehyde Dehydrogenase / deficiency*
  • Succinate-Semialdehyde Dehydrogenase / genetics
  • Treatment Outcome
  • Vigabatrin / therapeutic use*
  • gamma-Aminobutyric Acid / metabolism

Substances

  • GABA Agents
  • Hydroxybutyrates
  • 4-hydroxybutyric acid
  • gamma-Aminobutyric Acid
  • ALDH5A1 protein, human
  • Succinate-Semialdehyde Dehydrogenase
  • Vigabatrin