Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease

J Neurol Sci. 2017 Aug 15:379:296-297. doi: 10.1016/j.jns.2017.06.034. Epub 2017 Jun 22.
No abstract available

Keywords: Clinical genetics; Developmental disorders; Dystonia; Ocular motility; SLC18A2; VMAT2.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Dopamine / metabolism*
  • Dopamine / urine
  • Dopamine Agonists / therapeutic use
  • Dystonic Disorders / blood
  • Dystonic Disorders / drug therapy
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / urine
  • Exome / genetics*
  • Exome Sequencing*
  • Female
  • Humans
  • Mutation, Missense / genetics
  • Parents
  • Pramipexole / therapeutic use
  • Serotonin / blood
  • Serotonin / metabolism*
  • Siblings
  • Vesicular Monoamine Transport Proteins / genetics

Substances

  • Dopamine Agonists
  • SLC18A2 protein, human
  • Vesicular Monoamine Transport Proteins
  • Serotonin
  • Pramipexole
  • Dopamine