GNAL deletion as a probable cause of dystonia in a patient with the 18p- syndrome

Parkinsonism Relat Disord. 2014 Mar;20(3):351-2. doi: 10.1016/j.parkreldis.2013.12.005. Epub 2013 Dec 25.
No abstract available

Keywords: 18p- syndrome; Dystonia; GNAL; Genetics; Topiramate.

Publication types

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

MeSH terms

  • Chromosome Deletion
  • Chromosome Disorders / complications*
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 18 / genetics
  • Dystonia / diagnosis
  • Dystonia / etiology*
  • Dystonia / genetics*
  • Female
  • GTP-Binding Protein alpha Subunits / genetics*
  • Gene Deletion*
  • Humans
  • Young Adult

Substances

  • GTP-Binding Protein alpha Subunits
  • olfactory G protein subunit alpha olf

Supplementary concepts

  • Chromosome 18p deletion syndrome