IQSEC2 Mutation Associated with Epilepsy, Intellectual Disability, and Autism Results in Hyperexcitability of Patient-Derived Neurons and Deficient Synaptic Transmission

Investigators used iPSC technology to obtain hippocampal neurons to investigate the neuropathology of IQSEC2-mediated disease. The neurons were characterized at three-time points during differentiation to assess developmental progression.