Pharmacogenomics in Epilepsy Management
Summary
Pharmacogenomics in epilepsy management seeks to tailor antiseizure medication (ASM) to an individual’s genetic profile, aiming to maximise efficacy and minimise adverse effects. Variability in drug response often arises from polymorphisms in genes encoding drug‐metabolising enzymes, transporters and molecular targets. Advances in sequencing technologies and bioinformatic analyses have facilitated the discovery of clinically relevant variants, paving the way for personalised prescribing in both monotherapy and polytherapy contexts. By integrating models of drug absorption, distribution, metabolism and excretion with patient‐specific genomic data, clinicians can anticipate drug–drug interactions, nonlinearity in pharmacokinetics and treatment resistance. Despite promising progress, challenges remain in validating biomarkers across diverse populations, standardising definitions of drug response and ensuring equitable access to genotyping. Ongoing efforts to harmonise data from multinational cohorts, refine physiologically based pharmacokinetic (PBPK) models and explore mechanistic targets are driving a shift from trial‐and‐error prescribing towards precision medicine. This evolution holds global significance, offering the prospect of optimised seizure control, reduced hospitalisations and improved quality of life for people living with epilepsy.
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Pharmacogenomics in Epilepsy Management publication trend
The graph below shows the total number of articles in pharmacogenomics in epilepsy management across all publications each year (not limited to Nature Index journals).
Technical terms
Pharmacogenomics: Study of how genetic variation influences drug response and toxicity.
Pharmacokinetics (PK): Branch of pharmacology concerned with the absorption, distribution, metabolism and excretion of drugs.
Physiologically based pharmacokinetic (PBPK) model: Computational framework simulating drug behaviour in body compartments based on physiology and biochemistry.
Single nucleotide variant (SNV): A change of a single base in the DNA sequence.
Antiseizure medication (ASM): Drug used to prevent or reduce the frequency of epileptic seizures.
Cytochrome P450 (CYP): Family of enzymes responsible for the metabolism of many medications.
ATP-binding cassette transporter: Membrane protein that uses ATP hydrolysis to transport substances, including drugs, across cell membranes.
References
- Applying Physiologically Based Pharmacokinetic Modeling to Interpret Carbamazepine’s Nonlinear Pharmacokinetics and Its Induction Potential on Cytochrome P450 3A4 and Cytochrome P450 2C9 Enzymes. Pharmaceutics (2024).
- Single-Base Gene Variants in MIR-146A and SCN1A Genes Related to the Epileptogenic Process in Drug-Responsive and Drug-Resistant Temporal Lobe Epilepsy—A Preliminary Study in a Brazilian Cohort Sample. International Journal of Molecular Sciences (2024).
- Review of pharmacogenetics of antiseizure medications: focusing on genetic variants of mechanistic targets. Frontiers in Pharmacology (2024).
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