Mutationsde novodeSYNGAP1associées à la déficience intellectuelle non syndromique
Author:
Publisher
EDP Sciences
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Link
http://www.medecinesciences.org/10.1051/medsci/2010262133/pdf
Reference9 articles.
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3. Komiyama NH, Watabe AM, Carlisle HJ,et al.SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor.J Neurosci2002; 22 : 9721–32.
4. Rumbaugh G, Adams JP, Kim JH, Huganir RL. SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons.Proc Natl Acad Sci USA2006; 103 : 4344–51.
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1. Context-dependent hyperactivity in syngap1a and syngap1b zebrafish models of SYNGAP1-related disorder;Frontiers in Molecular Neuroscience;2024-07-10
2. SYNGAP1 and Methylenetetrahydrofolate in Cerebrospinal Fluid: Cognitive Development after Oral Folate (5-Methyltetrahydrofolate) Supplementation in a 5-Year-Old Girl;Journal of Pediatric Neurology;2021-12-07
3. Gene networks associated with non-syndromic intellectual disability;Journal of Neurogenetics;2017-12-04
4. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1;Nature Genetics;2013-05-26
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