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Genetic variations associated with pharmacoresistant epilepsy (Review)
Noemí Cárdenas-Rodríguez1, Liliana Carmona-Aparicio1, Diana L Pérez-Lozano1
1Laboratory of Neuroscience, National Institute of Pediatrics, Ministry of Health, Coyoacán, Mexico City 04530, Mexico.
Molecular Medicine Reports
|April 23, 2020
Summary
Genetic variations significantly influence drug-resistant epilepsy. Understanding these genetic factors in epilepsy is key to developing better treatment strategies and understanding disease mechanisms.
Area of Science:
- Neurology
- Genetics
- Pharmacology
Background:
- Epilepsy is a prevalent neurological disorder with a significant portion of patients developing pharmacoresistant epilepsy.
- Drug-resistant epilepsy arises from complex interactions including genetic, environmental, and drug-related factors.
- Genetic variations in specific genes, such as those encoding ion channels and drug-metabolizing enzymes, are increasingly implicated in epilepsy drug resistance.
Purpose of the Study:
- To review and highlight the genetic variants associated with drug resistance in epilepsy.
- To provide a comprehensive understanding of how genetic variations contribute to epilepsy pharmacoresistance.
- To inform the development of improved therapeutic strategies and elucidate underlying pathophysiological processes.
Main Methods:
- Literature review of studies investigating genetic factors in epilepsy drug resistance.
- Analysis of genetic variations in voltage-dependent ion channels and drug metabolizer genes.
- Synthesis of current research on the role of genetic variation in epilepsy pharmacoresistance.
Main Results:
- Genetic variations in drug resistance-related genes are crucial in epilepsy pharmacoresistance.
- Specific genes, including those for sodium and potassium channels and xenobiotic metabolizers, harbor key variants.
- Evidence strongly links genetic factors to the failure of medical treatments in epilepsy.
Conclusions:
- Genetic variation plays a critical role in the development and regulation of drug resistance in epilepsy.
- Identifying specific genetic variants can lead to more effective and personalized treatment strategies for epilepsy.
- Further research into the genetic underpinnings of epilepsy pharmacoresistance is essential for advancing patient care.
Keywords:
epilepsypharmacoresistantgeneticpolymorphismsmutations epilepsyclinical implicationspersonalized medicinetranslational medicineMore Related Videos
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