Our Background

The IQSEC2 protein plays a critical role in the development and strengthening of synaptic interactions between neurons.   Mutations in the IQSEC2 result in severe intellectual disability, drug resistant epilepsy and autism.   There is no treatment for this disorder. Children afflicted with these mutations are generally averbal, can have up to 100 seizures a day, and require constant supervision by a caregiver.   Please see the IQSEC2 Research and Advocacy Foundation website for further information concerning IQSEC2.