Article
Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub.
Nature communications - 17 Feb 2023
Forrest Marc P, Dos Santos Marc, Piguel Nicolas H, Wang Yi-Zhi, Hawkins Nicole A, Bagchi Vikram A, Dionisio Leonardo E, Yoon Sehyoun, Simkin Dina, Martin-de-Saavedra Maria Dolores, Gao Ruoqi, Horan Katherine E, George Alfred L, LeDoux Mark S, Kearney Jennifer A, Savas Jeffrey N, Penzes Peter
Abstract excerpt
Neuropsychiatric disorders (NPDs) are frequently co-morbid with epilepsy, but the biological basis of shared risk remains poorly understood. The 16p11.2 duplication is a copy number variant that confers risk for diverse NPDs including autism spectrum disorder, schizophrenia, intellectual disability and epilepsy. We used a mouse model of the 16p11.2 duplication (16p11.2dup/+) to uncover molecular and circuit...
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