IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures

Parkinsonism Relat Disord. 2019 Nov:68:57-59. doi: 10.1016/j.parkreldis.2019.09.020. Epub 2019 Sep 17.
No abstract available

Keywords: Anarthria; Aphonia; Dystonia; IRF2BPL; Seizures.

Publication types

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

MeSH terms

  • Adult
  • Aphonia / etiology*
  • Carrier Proteins / genetics*
  • Dysarthria / etiology*
  • Dystonic Disorders / complications*
  • Dystonic Disorders / genetics*
  • Female
  • Humans
  • Male
  • Nuclear Proteins / genetics*
  • Ocular Motility Disorders / etiology*
  • Pedigree
  • Saccades*
  • Seizures / etiology*

Substances

  • Carrier Proteins
  • IRF2BPL protein, human
  • Nuclear Proteins