A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder

Parkinsonism Relat Disord. 2019 Apr:61:4-6. doi: 10.1016/j.parkreldis.2018.12.001. Epub 2018 Dec 7.
No abstract available

Keywords: Child neurology; Dystonia; KCTD17; Myoclonus.

Publication types

  • Case Reports
  • Letter
  • Video-Audio Media

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adaptor Proteins, Signal Transducing / metabolism
  • Child
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / physiopathology
  • Electromyography
  • Female
  • Humans
  • Hyperkinesis / genetics*
  • Hyperkinesis / physiopathology
  • Mutation
  • RNA, Messenger / metabolism

Substances

  • Adaptor Proteins, Signal Transducing
  • KCTD17 protein, human
  • RNA, Messenger

Supplementary concepts

  • Myoclonic dystonia