Background. Growing evidence indicates that pharmacogenomics will positively impact treatment for
patients with epilepsy in the near future, leading to the implementation of a precision-based use of antiepileptic
drug (AED) therapy, thereby providing a cornerstone for precision medicine.
Objective: In this review, we briefly summarize the studies of pharmacogenomics in epilepsy, recent advances,
and how it may progress in the future.
Methods: We subdivided the review into two main sections: genetic variants that may modulate response to
AEDs through pharmacokinetics or pharmacodynamics mechanisms; and gene variants that may affect tolerability
and safety of AEDs.
Results: Results from most studies have been contradictory, due to several flaws, including small sample sizes,
inaccurate phenotyping, and genotyping strategies. However, even with these limitations, very recent developments
indicate that the goal of incorporating genetic data into clinical practice may be attainable in the near future.
In addition, recent pharmacogenomic studies of hypersensitivity reactions to AEDs have also made important
strides, as its prevention appears attainable with the identification of HLA-A genotypes for patients at high
risk of carbamazepine hypersensitivity.
Conclusion: To better clarify the relationship between genetic factors and AEDs, future studies will require more
precise epilepsy phenotypes, larger sample sizes, and astute use of new genotyping strategies. Reasonably, this
will lead to novel therapeutic approaches in drug targeting and antiepileptogenesis.