Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub

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SUMMARY

    The authors identified an epilepsy-associated subnetwork that was dysregulated in 16p11.2dup/+ mice and altered in brain tissue from individuals with NPDs. Cortical circuits from 16p11.2dup/+ mice exhibited hypersynchronous activity and enhanced network glutamate release, which increased susceptibility to seizures. Remarkably, correcting Prrt2 copy number rescued aberrant circuit properties, seizure susceptibility and social deficits in 16p11.2dup/+ mice. Membrane proteomics uncovers disrupted synaptic and epilepsy-associated networks in 16p11.2dup/+ mice The authors first validated the altered protein expression in the 16p11.2dup/+ mouse model by Western blotting (Supplementary Fig 1b) and . . .

     

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