Pathogenic Mechanisms Associated with a CUX2 Missense Variant in Epilepsy

Developmental and epileptic encephalopathies (DEEs) are a group of epileptic disorders characterized by the co-occurrence of seizures and intellectual disability. We aim to determine the pathogenic mechanism by which a novel, recurrent missense variant in CUX2, a transcription factor (TF), causes DEEs using a patient induced pluripotent stem cell-derived neuronal model. The insights gained from this project will expand our knowledge on TFs in epilepsy, potentially inspiring new strategies for the development of therapeutics.