GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function
نویسندگان
چکیده
منابع مشابه
Intellectual disability associated with a homozygous missense mutation in THOC6
BACKGROUND We recently described a novel autosomal recessive neurodevelopmental disorder with intellectual disability in four patients from two related Hutterite families. Identity-by-descent mapping localized the gene to a 5.1 Mb region at chromosome 16p13.3 containing more than 170 known or predicted genes. The objective of this study was to identify the causative gene for this rare disorder....
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1 Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States, 2 Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC, United States, 3 Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI, United States, 4 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, United States, 5 Department o...
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Learning, memory and brain development are associated with long-lasting modifications of synapses that are guided by specific patterns of neuronal activity. Such modifications include classical Hebbian plasticities (such as long-term potentiation and long-term depression), which are rapid and synapse-specific, and others, such as synaptic scaling and metaplasticity, that work over longer timesc...
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We report anti-N-methyl-d-aspartate (NMDA) receptor encephalitis in two patients with autism and intellectual disability presenting with neuropsychiatric symptoms of catatonia and neuroleptic malignant syndrome. Case reports such as these help raise awareness of this clinical issue. By paving the way for earlier diagnoses they ultimately maximise the potential for curative treatments and preven...
متن کاملDelineating the GRIN1 phenotypic spectrum
OBJECTIVE To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology. METHODS We collected molecular and clinical data from several diagnostic and research cohorts. Functional consequences of GRIN1 mutations were investigated in Xenopus laevis oocytes. RESULTS We identified heteroz...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2017
ISSN: 1434-5161,1435-232X
DOI: 10.1038/jhg.2017.19