Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia

Clin Genet. 2015 Mar;87(3):293-5. doi: 10.1111/cge.12423. Epub 2014 Jul 10.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Consanguinity
  • Dystonia / diagnosis
  • Dystonia / genetics*
  • Epilepsy / diagnosis
  • Epilepsy / genetics*
  • Female
  • Genome-Wide Association Study
  • GluK2 Kainate Receptor
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Mental Disorders / diagnosis
  • Mental Disorders / genetics*
  • Mutation*
  • Pedigree
  • Phenotype
  • Receptors, Kainic Acid / genetics*

Substances

  • Receptors, Kainic Acid