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Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP‐activating protein, cause nonsyndromic intellectual disability (NSID). All disease‐causing point mutations identified until now in SYNGAP1Expand
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Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function
Haploinsufficiency of the SYNGAP1 gene, which codes for a Ras GTPase-activating protein, impairs cognition both in humans and in mice. Decrease of Syngap1 in mice has been previously shown to causeExpand
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Antenatal Suppression of IL-1 Protects against Inflammation-Induced Fetal Injury and Improves Neonatal and Developmental Outcomes in Mice
Preterm birth (PTB) is commonly accompanied by in utero fetal inflammation, and existing tocolytic drugs do not target fetal inflammatory injury. Of the candidate proinflammatory mediators, IL-1Expand
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Inhibition of mTOR during a postnatal critical sensitive window rescues deficits in GABAergic PV cell connectivity and social behavior caused by loss of TSC1
Mutations in regulators of the Mechanistic Target Of Rapamycin Complex 1 (mTORC1), such as Tsc1/2, lead to neurodevelopmental disorders associated with autism, intellectual disabilities and epilepsy.Expand
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Fly model sheds light on brain disease
Experiments on flies suggest that a gain-of-function mechanism in a protein called CSPɑ contributes to the progressive brain disease CLN4.
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Strategies to rescue cognitive deficits due to SYNGAP1 haploinsufficiency
in utero cyanosis. Our studies have shown that WM-immaturity causes increased oligodendrocyte apoptosis following ischemiareperfusion/reoxygenation (I/R). Astrocytes play a central role in brainExpand
Role of mTOR pathway in GABAergic maturation in the mouse neocortex
The mTOR pathway has been implicated in controlling several aspects of neurodevelopment by regulating the rate of proteinsynthesis. Mutations in the regulatory components Tsc1 and Tsc2 ofExpand