Ontology highlight
ABSTRACT:
SUBMITTER: Marwick KFM
PROVIDER: S-EPMC5407442 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Marwick Katie F M KFM Parker Peter P Skehel Paul P Hardingham Giles G Wyllie David J A DJA
Wellcome open research 20170317
<i>Background:</i> The N-methyl-D-aspartate receptor (NMDAR) is an ionotropic glutamate receptor that has important roles in synaptogenesis, synaptic transmission, and synaptic plasticity. Recently, a large number of rare genetic variants have been found in NMDAR subunits in people with neurodevelopmental disorders, and also in healthy individuals. One such is the GluN2A<sup>R586K</sup> variant, found in a person with intellectual disability. Identifying the functional consequences, if any, of s ...[more]