Genetic factors associated with drug-resistance of epilepsy: Relevance of stratification by patient age and aetiology of epilepsy

  title={Genetic factors associated with drug-resistance of epilepsy: Relevance of stratification by patient age and aetiology of epilepsy},
  author={M. Blanca S{\'a}nchez and Jos{\'e} Luis Herranz and Carlos Leno and Rosa Arteaga and Agust{\'i}n Oterino and Elsa Mar{\'i}a Valdiz{\'a}n and Josep Mar{\'i}a Nicol{\'a}s and Javier Ad{\'i}n and Juan A. Armijo},

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ABCB1 Polymorphisms and Drug-Resistant Epilepsy in a Tunisian Population
The response to antiepileptics seems to be modulated by TT genotypes, T alleles, and the predicted haplotypes for the tested SNPs in the population.
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ABCB1 gene polymorphisms is not associated with drug-resistant epilepsy in Romanian children
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Relationship between ABCB1 3435TT genotype and antiepileptic drugs resistance in Epilepsy: updated systematic review and meta-analysis
Results indicate that ABCB1 C3435T polymorphism, especially TT genotype, plays an important role in refractory epilepsy and genetic screening of this genotype may be useful to predict AEDs response before starting the treatment, as further investigations should validate the association.


Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1.
Patients with drug-resistant epilepsy were more likely to have the CC genotype at ABCB1 3435 than the TT genotype, implying that the polymorphism may not itself be causal but rather may be linked with the causal variant.
Various Pharmacogenetic Aspects of Antiepileptic Drug Therapy
Polymorphisms of drug targets may represent another genetic facet in epilepsy: a recent study demonstrated for the first time a polymorphism of a drug target associated in clinical practice with differing response to two classic AEDs.
ABCB1 polymorphisms influence the response to antiepileptic drugs in Japanese epilepsy patients.
It is demonstrated that ABCB1 polymorphisms may influence the AED responsiveness without significant changes in the plasma concentrations of CBZ, the inverse of previous results in European epileptics, thus the influence of ABCB 1 polymorphisms on the Aed responsiveness and/or the P-glycoprotein activity may vary among races.
Non-response to antiepileptic pharmacotherapy is associated with the ABCC2 −24C>T polymorphism in young and adult patients with epilepsy
A higher risk of antiepileptic drug failure in ABCC2 −24T allele carriers is suggested possibly because of compensatory upregulation of ABCB1.
The clinical impact of pharmacogenetics on the treatment of epilepsy
This article reviews the published work with particular emphasis on pharmacogenetic alterations that may affect efficacy, tolerability, and safety of antiepileptic drugs (AEDs), including variation in genes encoding drug target, drug transport, drug metabolizing, and human leucocyte antigen (HLA) proteins.
Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort study
Therapeutic Drug Monitoring and Clinical Outcomes in Epileptic Egyptian Patients: A Gene Polymorphism Perspective Study
The adenosine triphosphate-binding cassette subfamily B member 1 (ABCB1) is an important candidate gene for potentially influencing the response to antiepileptic drugs and the utility of dose adjustment on the basis of genotype for these medicines that are substrates for this gene is assessed.
The Role of Pharmacogenetics in the Metabolism of Antiepileptic Drugs
  • U. Klotz
  • Biology, Medicine
    Clinical pharmacokinetics
  • 2007
The traditional and validated therapeutic drug monitoring approach, representing a direct ‘phenotype’ assessment, still remains the method of choice when an individualised dosing regimen is anticipated, but pharmacogenetics and pharmacogenomics can offer some novel contributions when attempts are made to maximise drug efficacy and enhance drug safety.