| http://purl.uniprot.org/citations/20890276 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20890276 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20890276 | http://www.w3.org/2000/01/rdf-schema#comment | "N-methyl-D-aspartate (NMDA) receptors mediate excitatory neurotransmission in the mammalian brain. Two glycine-binding NR1 subunits and two glutamate-binding NR2 subunits each form highly Ca²(+)-permeable cation channels which are blocked by extracellular Mg²(+) in a voltage-dependent manner. Either GRIN2B or GRIN2A, encoding the NMDA receptor subunits NR2B and NR2A, was found to be disrupted by chromosome translocation breakpoints in individuals with mental retardation and/or epilepsy. Sequencing of GRIN2B in 468 individuals with mental retardation revealed four de novo mutations: a frameshift, a missense and two splice-site mutations. In another cohort of 127 individuals with idiopathic epilepsy and/or mental retardation, we discovered a GRIN2A nonsense mutation in a three-generation family. In a girl with early-onset epileptic encephalopathy, we identified the de novo GRIN2A mutation c.1845C>A predicting the amino acid substitution p.N615K. Analysis of NR1-NR2A(N615K) (NR2A subunit with the p.N615K alteration) receptor currents revealed a loss of the Mg²(+) block and a decrease in Ca²(+) permeability. Our findings suggest that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.677"xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.677"xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Geider K."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Geider K."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Wieczorek D."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Wieczorek D."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Rappold G."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Rappold G."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Villard L."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Villard L."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Kalscheuer V.M."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Kalscheuer V.M."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Ropers H.H."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Ropers H.H."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Endele S."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Endele S."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Moog U."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Moog U."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Rauch A."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Rauch A."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Reis A."xsd:string |
| http://purl.uniprot.org/citations/20890276 | http://purl.uniprot.org/core/author | "Reis A."xsd:string |