Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

Parkinsonism Relat Disord. 2019 May:62:239-241. doi: 10.1016/j.parkreldis.2019.01.017. Epub 2019 Jan 24.
No abstract available

Keywords: Ataxia; Brain iron accumulation; Dystonia; Epileptic encephalopathy; IRF2BPL.

Publication types

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

MeSH terms

  • Adult
  • Carrier Proteins / genetics*
  • Female
  • Humans
  • Mutation / genetics*
  • Neurodevelopmental Disorders / diagnostic imaging*
  • Neurodevelopmental Disorders / genetics*
  • Nuclear Proteins / genetics*
  • Phenotype*

Substances

  • Carrier Proteins
  • IRF2BPL protein, human
  • Nuclear Proteins