Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation

Parkinsonism Relat Disord. 2019 Apr:61:7-9. doi: 10.1016/j.parkreldis.2019.01.004. Epub 2019 Jan 8.
No abstract available

Keywords: Deep brain stimulation; KCTD17; Myoclonic dystonia; Myoclonus dystonia; SGCE.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Disease Progression
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / physiopathology
  • Humans
  • Male
  • Mutation
  • RNA Splice Sites / genetics
  • Young Adult

Substances

  • Adaptor Proteins, Signal Transducing
  • KCTD17 protein, human
  • RNA Splice Sites

Supplementary concepts

  • Myoclonic dystonia