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"In this study, we did something no one else had done before. Using an animal model, we looked at a mutation known to cause intellectual disability and showed for the first time a causative link between abnormal synapse maturation during brain development and life-long cognitive disruptions commonly seen in adults with a neurodevelopmental disorder.
There are a few genes that can't be altered without affecting normal cognitive abilities. SynGAP1 is one of the most important genes in cognition - so far, every time a mutation that disrupts the function of SynGAP1 has been found, that individual's brain simply could not develop correctly. It regulates the development of synaptic function like no other gene I've seen."
"You might think this accelerated development of brain circuits would make you smarter. But the increased excitability actually disorganizes brain development. We think that early maturation of these excitatory synapses disrupts the timing of later developmental milestones. It rains down chaos on this complex process, preventing normal intellectual and behavioral development."
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"Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses"
Prof. Gavin Rumbaugh et al
Cell, Volume 151, Issue 4, 709-723, 9 November 2012. 10.1016/j.cell.2012.08.045
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23 Apr. 2014. <http://www.medicalnewstoday.com/articles/252668>
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