[De novo mutations in SYNGAP1 associated with non-syndromic mental retardation].
Hamdan
Fadi F
FF
Centre d'excellence en neuromique de l'Université de Montréal, Centre de recherche, Montréal, H3T 1C5 Canada.
Gauthier
Julie
J
Rouleau
Guy A
GA
Michaud
Jacques L
JL
D000818:Animals; D002648:Child; D003072:Cognition Disorders / Q000235:genetics; D020690:GTPase-Activating Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007859:Learning Disabilities / Q000235:genetics; D008569:Memory Disorders / Q000235:genetics; D051379:Mice; D018345:Mice, Knockout; D008959:Models, Neurological; D009473:Neuronal Plasticity / Q000235:genetics; D017354:Point Mutation; D016194:Receptors, N-Methyl-D-Aspartate / Q000502:physiology; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology; D009435:Synaptic Transmission / Q000235:genetics / Q000502:physiology; D020703:ras GTPase-Activating Proteins / Q000172:deficiency / Q000235:genetics
D020690:GTPase-Activating Proteins; D016194:Receptors, N-Methyl-D-Aspartate; C484739:SYNGAP1 protein, human; C484512:Syngap1 protein, mouse; D020703:ras GTPase-Activating Proteins