Pharmacogenetics in Epilepsy and Refractory Epilepsy

CZORNYJ, LILIANA; AUZMENDI, JERÓNIMO; LAZAROWSKI, ALBERTO

Pharmacoresistance in epilpesy. From genes and molecules to promising therapies.

Springer Nature Switzerland AG

Año: 2023; p. 177 - 206

Pharmacogenomic studies in epilepsy are necessary due to the highprevalence of this disease and the high percentage of drug resistance phenotype.Several altered genes encode proteins involved in drug metabolism and drugtransport (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 identifcation of the genetic alterations responsible for each phenotype is the frst step toward designing drugs capable of reversing the abnormality and thus developing personalized pharmacogenetic therapy.