Cellular and Behavioral Characterization of Pcdh19 Mutant Mice: subtle Molecular Changes, Increased Exploratory Behavior and an Impact of Social Environment.

Abstract excerpt

Mutations in the X-linked cell adhesion protein PCDH19 lead to seizures, cognitive impairment, and other behavioral comorbidities when present in a mosaic pattern. Neither the molecular mechanisms underpinning this disorder nor the function of PCDH19 itself are well understood. By combining RNA in situ hybridization with immunohistochemistry and analyzing single-cell RNA sequencing datasets, we reveal Pcdh19...

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