Towards precision medicine in genetic epilepsies
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The application of the precision medicine paradigm in epilepsy allows a transition from a pattern/evidence-based treatment, based on the electro-clinical phenotype, to an algorithm-based treatment, based on the genetic aetiology. Currently precision medicine strategies in epilepsy include therapies targeting defective metabolic pathways, drugs with an effect on ion channels (either openers or blockers) and agents with an inhibitory effect on the mechanistic target of rapamycin (mTOR) signaling cascade. In this narrative review examples of current recognised applications of precision medicine strategies are provided. Establishing a genetic diagnosis has implications not only for epilepsy treatment, but also for considering multi-organ involvement and adopting preventative strategies to improve outcome. There is a number of challenges, mainly related to the high complexity of genomic networks and disease biology, still to face before precision medicine can be extensively applied in epilepsy.
KEY WORDS: epilepsy, precision medicine, geno - mics, targeted therapies.