Topic: Nicolaides-Baraitser syndrome

The SWI/SNF (BAF) complex regulates gene transcription through chromatin remodeling, with SMARCA2 (BRM) serving as a core ATP hydrolysis enzyme subunit in this complex. Clinical cases have revealed that mutations in SMARCA2 (BRM) lead to Nicolaides-Baraitser syndrome, causing symptoms such as cortical dysplasia, corpus callosum agenesis, intellectual disability, and epilepsy. However, the pathogenic mechanisms of SMARCA2 (BRM) in neurodevelopment remain unclear. In this study, we hypothesize SMARCA2(BRM) mutation impairs the neural development through altering the chromatin remodeling of the S