NMDA receptor subunit mutations in neurodevelopmental disorders

Curr Opin Pharmacol. 2015 Feb;20:73-82. doi: 10.1016/j.coph.2014.11.008. Epub 2014 Dec 11.


N-Methyl-D-aspartate receptors (NMDARs) are glutamate-gated cation channels that are expressed throughout the brain and play essential role in brain functioning. Diversity of the subunits and of their spatio-temporal expression imparts distinct functional properties for the particular NMDAR in a particular brain region and developmental stage. Mutations in NMDARs may have pathological consequences and actually lead to various neurological disorders. Recent human genetic studies as highlighted here show the existence of multiple alterations in NMDARs subunits genes in several usual and common brain diseases, such as intellectual disability, autism spectrum disorders (ASD), or epilepsy. Relation of a particular mutation to the corresponding alteration of NMDARs function may provide an avenue to the targeted therapy for the pharmacological treatment of the disorders.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Brain / physiology
  • Brain / physiopathology
  • Brain Diseases / drug therapy
  • Brain Diseases / genetics
  • Brain Diseases / physiopathology
  • Humans
  • Mental Disorders / drug therapy
  • Mental Disorders / genetics*
  • Mental Disorders / physiopathology
  • Molecular Targeted Therapy
  • Mutation
  • Nervous System Diseases / drug therapy
  • Nervous System Diseases / genetics*
  • Nervous System Diseases / physiopathology
  • Receptors, N-Methyl-D-Aspartate / genetics*


  • Receptors, N-Methyl-D-Aspartate