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Título del libro: Pharmacoresistance In Epilepsy: From Genes And Molecules To Promising Therapies, Second Edition
Título del capítulo: Genes Involved in Pharmacoresistant Epilepsy

Autores UNAM:
IRIS ENRIQUETA MARTINEZ JUAREZ;
Autores externos:

Idioma:

Año de publicación:
2023
Palabras clave:

Drug-resistant epilepsy; Epilepsy; Genes; Genetic Epilepsies; Hypothesis, Pharmacogenomics


Resumen:

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. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2013, 2023.


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