Mutations in NMDA receptors influence neurodevelopmental disorders causing epilepsy and intellectual disability

Clinical Genetics

Volumn 79, Issue 3, 2011, Pages 219-220

  Metzler, M ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2A; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2B;

CHROMOSOME 16P; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; EPILEPSY; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; NOTE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

EID: 79551632703     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01610.x     Document Type: Note

References (7)

1. Cull-Candy S, Brickley S, Farrant M. NMDA receptor subunits: diversity, development and disease. Curr Opin Neurobiol 2001: 11 (3): 327-335.
2. Reutlinger C, Helbig I, Gawelczyk B et al. Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. Epilepsia 2010: 51 (9): 1870-1873.
3. Laube B, Schemm R, Betz H. Molecular determinants of ligand discrimination in the glutamate-binding pocket of the NMDA receptor. Neuropharmacology 2004: 47 (7): 994-1007.
4. Kiyama Y, Manabe T, Sakimura K, Kawakami F, Mori H, Mishina M. Increased thresholds for long-term potentiation and contextual learning in mice lacking the NMDA-type glutamate receptor epsilon 1 subunit. J Neurosci 1998: 18 (17): 6704-6712.
5. Kutsuwada T, Sakimura K, Manabe T et al. Impairment of suckling response, trigeminal neuronal pattern formation, and hippocampal LTD in NMDA receptor epsilon 2 subunit mutant mice. Neuron 1996: 16 (2): 333-344.
6. Sakimura K, Kutsuwada T, Ito I et al. Reduced hippocampal LTP and spatial learning in mice lacking NMDA receptor epsilon 1 subunit. Nature 1995: 373 (6510): 151-155.
7. Guilmatre A, Dubourg C, Mosca AL et al. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry 2009: 66 (9): 947-956.