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Genes Involved in Pharmacoresistant Epilepsy

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Pharmacoresistance in Epilepsy

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Abstract

This chapter is devoted to drug-resistant epilepsy and its genetic mechanisms. There are currently six hypotheses proposed for pharmacoresistant epilepsy. The genetic aspects of five of the six hypotheses are addressed in this chapter except from the intrinsic hypothesis as it does not comprise genetic mechanisms.

In the end, we propose two assertions in the definition of genetic “drug-resistant” epilepsies: (1) when the antiseizure medication (ASM) has a proven effect on the molecular lesion, but seizures persist in spite of ASM treatment; this latter, we believe is true genetic pharmacorresistant epilepsy and (2) epilepsies are drug resistant because the antiseizure drug ASM does not have an effect on the specific molecular lesion of the epilepsy syndrome. The epilepsy is supposedly “drug resistant,” but seizures do not stop because “the key does not fit the lock in the door”.

In diagnosis poor response to treatment, it is also important to consider that incorrect diagnosis in some epilepsies can also lead to “pseudo-drug resistance,” where mistreatment can lead to poor response or aggravation of seizures, this happens more frequently in genetic epilepsies.

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Authors and Affiliations

  1. Clinic of Epilepsy, National Autonomous University of Mexico and National Institute of Neurology and Neurosurgery, Mexico City, Mexico

    Iris E. Martínez-Juárez, Diego A. Barrios-González, Aurelio Jara Prado, Fernando Sotelo-Díaz, Juan A. Calderón Martínez, Georgina J. Mejía del Castillo & Patricia J. Morales Chinga

  2. Department of Genetics, National Autonomous University of Mexico and National Institute of Neurology and Neurosurgery, Mexico City, Mexico

    Adriana Ochoa

  3. Neurology Department, University of California Los Angeles, Los Angeles, CA, USA

    Antonio V. Delgado-Escueta

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Correspondence to Iris E. Martínez-Juárez .

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  1. Pharmacobiology Department, Center for Research and Advanced Studies, México, Mexico

    Luisa L. Rocha

  2. Institute for Research in Physiopathology and Clinical Biochemistry (INFIBIOC), School of Pharmacy and Biochemistry, University of Buenos Aires, Buenos Aires, Argentina

    Alberto Lazarowski

  3. Department of Neurology and Neurosurgery, Escola Paulista de Medicina, Federal University of São Paulo, São Paulo, Brazil

    Esper A. Cavalheiro

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Martínez-Juárez, I.E. et al. (2023). Genes Involved in Pharmacoresistant 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_17

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