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Pharmacogenetics in Epilepsy and Refractory Epilepsy

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Abstract

Pharmacogenomic studies in epilepsy are necessary due to the high prevalence of this disease and the high percentage of drug resistance phenotype. Several altered genes encode proteins involved in drug metabolism and drug transport (pharmacokinetics), function and expression of receptors, ion channels, metabolic regulatory proteins, or secondary messengers of signaling pathways (pharmacodynamics).

Despite the vast spectrum of antiseizure medications (ASMs) developed to date, refractory epilepsy remains consistently prevalent (30–40%). Since no ideal drug capable of curing all forms of epilepsy exists, the molecular identification of the genetic alterations responsible for each phenotype is the first step toward designing drugs capable of reversing the abnormality and thus developing personalized pharmacogenetic therapy.

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Correspondence to Alberto Lazarowski .

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Czornyj, L., Auzmendi, J., Lazarowski, A. (2023). Pharmacogenetics in Epilepsy and Refractory Epilepsy. In: Rocha, L.L., Lazarowski, A., Cavalheiro, E.A. (eds) Pharmacoresistance in Epilepsy. Springer, Cham. https://doi.org/10.1007/978-3-031-36526-3_10

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