Gene prioritization through comparative analyses of focal and generalized epilepsies

Genetic Generalized Epilepsy (GGE) is a well characterized epileptic disorder and represents 30 percent of all epilepsies. Studies in epileptogenesis have confirmed several dysregulated genes (e.g., HCN1, KCND2) which are also primarily mutated in genetic epilepsies. Our aim is to explore this connection of genes that influence epileptogenesis. We have been using bioinformatic approaches to look for prominent markers in epileptogenesis in established animal models for focal epilepsies (e.g., Pilocarpine, Kainic acid, Self sustained status epilepticus etc.) and generalized epilepsies (e.g., GABRA1 knockout, SCN1A zebrafish etc.). Meaningful integration of datasets involving both gene expression and genetic studies from these two epilepsy categories identifies significant candidate genes through prioritization algorithms. Further network evaluation of these genes captures relevant modules and gives insights into the pathways that can be targeted for further validation.

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