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Published on: May 16, 2019
Polymorphisms Affecting the Response to Novel Antiepileptic Drugs
Valentina Urzì Brancati1, Tiziana Pinto Vraca1, Letteria Minutoli1
1Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria, 98125 Messina, Italy.
Genetic factors significantly impact antiepileptic drug (AED) effectiveness. Understanding single nucleotide polymorphisms (SNPs) in key genes can guide personalized epilepsy treatment for better seizure control and reduced side effects.
Area of Science:
- Neurology
- Pharmacogenomics
- Genetics
Background:
- Epilepsy affects 1% of the global population, with 20-30% of patients exhibiting resistance to current antiepileptic drugs (AEDs).
- Drug resistance in epilepsy can stem from various factors, including genetic variations influencing drug response.
Purpose of the Study:
- To review the influence of single nucleotide polymorphisms (SNPs) on the pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of antiepileptic drugs.
- To explore the potential of genetic pre-evaluation for personalized epilepsy therapy.
Main Methods:
- A literature search was conducted using the PubMed database.
- Studies investigating the impact of SNPs on new AEDs' PK, PD, and efficacy were retrieved and analyzed.
Main Results:
- Polymorphisms in genes such as ABCB1, ABCC2, UGT1A4, UGT2B7, UGT2B15, CYP2C9, and CYP2C19 were found to affect AED pharmacokinetics and efficacy.
- These genetic variations contribute to interindividual differences in drug response.
Conclusions:
- Genetic variations, particularly SNPs in transporter and metabolism genes, play a crucial role in AED treatment outcomes.
- Pre-evaluating patients for specific genetic markers could enable clinicians to tailor epilepsy treatments, enhancing efficacy and safety.
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