Transformative Research Priorities for the Epilepsies

New models of epileptogenesis must mimic human etiologies

Why would this research priority transform epilepsy research, our understanding of the epilepsies, and/or treatment of the epilepsies? :

The AES views this as the most important research endeavor for the next 5 years. We suggest a revision to explicitly state that new models must mimic human etiologies.

 

The lowest hanging fruit for epilepsy models is to use CRISPR-knock-in (KI) strategies to create mice expressing human gene variants rather than simply presuming gene knockout or over-expression will accurately model a loss- or gain-of-function mutation. The technology is widely available to most labs, not that costly, and could provide a strategy to re-evaluate the effects of gene variants on epileptogenesis. For example, a missense mutation that causes a loss-of-function may have very distinct effects on neuronal (or astrocyte) function compared with simply knocking a gene out.

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Idea No. 120