Genetic variations associated with pharmacoresistant epilepsy (Review)

Mol Med Rep. 2020 Apr;21(4):1685-1701. doi: 10.3892/mmr.2020.10999. Epub 2020 Feb 24.

Abstract

Epilepsy is a common, serious neurological disorder worldwide. Although this disease can be successfully treated in most cases, not all patients respond favorably to medical treatments, which can lead to pharmacoresistant epilepsy. Drug‑resistant epilepsy can be caused by a number of mechanisms that may involve environmental and genetic factors, as well as disease‑ and drug‑related factors. In recent years, numerous studies have demonstrated that genetic variation is involved in the drug resistance of epilepsy, especially genetic variations found in drug resistance‑related genes, including the voltage‑dependent sodium and potassium channels genes, and the metabolizer of endogenous and xenobiotic substances genes. The present review aimed to highlight the genetic variants that are involved in the regulation of drug resistance in epilepsy; a comprehensive understanding of the role of genetic variation in drug resistance will help us develop improved strategies to regulate drug resistance efficiently and determine the pathophysiological processes that underlie this common human neurological disease.

Keywords: epilepsy; pharmacoresistant; genetic; polymorphisms; mutations epilepsy; clinical implications; personalized medicine; translational medicine.

Publication types

  • Review

MeSH terms

  • Drug Resistance / genetics*
  • Epilepsy / diagnosis
  • Epilepsy / drug therapy*
  • Epilepsy / genetics*
  • Genetic Variation*
  • Humans