Blocking Protein Binding Increases Epilepsy Susceptibility, Revealing a Key Mechanism in Autism

Researchers identified the mechanism by which the autism- and epilepsy-associated protein PX-RICS binds to gephyrin, as well as the structure of the complex at a resolution of 2.2 angstroms (Å). An animal model in which this binding was blocked exhibited increased susceptibility to epilepsy and core features of chromosome 11–related disorders, including impaired social behavior. The study demonstrates a specific protein interaction and its role in the mechanisms of neurodevelopmental disorders, suggesting a potential new therapeutic target.