IQSEC2 Mediated Diseases: From Mechanisms to Treatment

Dear Colleagues,

Mutations in the IQSEC2 gene account for up to 5% of all children with neurodevelopmental delay associated with epilepsy and autism. The scope and focus of this issue is to present a series of papers covering the mechanism of IQSEC2 in health and disease and potential translational applications of new insights into IQSEC2 function. The issue will be for pediatricians, neurologists, and neuroscientists. It will serve as a reference for anyone interested in IQSEC2 disease covering the spectrum from mechanism to treatment. Papers which will be welcome will include large clinical series and experience with pharmacogenomics of the response to antiseizure medications, modeling IQSEC2 disease in multiple organisms (frog, zebrafish, and mice), studies with IPSC patient-derived lines, and novel therapies seeking to treat IQSEC2 disease—from small molecules to gene therapy.

Prof. Dr. Andrew P. Levy
Guest Editor

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• IQSEC2
• epilepsy
• autism
• intellectual disability
• animal model
• gene therapy
• pharmacogenomics