The pharmacogenomics of epilepsy

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Genetic factors contribute to the high interindividual variability in response to antiepileptic drugs. However, most genetic markers identified to date have limited sensitivity and specificity, and the value of genetic testing in guiding antiepileptic drug (AED) therapy is limited. The best defined indication for testing relates to HLA-B∗15:02 genotyping to identify those individuals of South Asian ethnicity who are at high risk for developing serious adverse cutaneous reactions to carbamazepine. The indication for HLA-A∗31:01 testing to identify individuals at risk for skin reactions from carbamazepine, or for CYP2C9 genotyping to identify individuals at risk for serious skin reactions from phenytoin is less compelling. The use of genetic testing to guide epilepsy treatment is likely to increase in the future, as better understanding of the function of epilepsy genes will permit the application of precision medicine targeting the biological mechanisms responsible for epilepsy in the specific individual.

Original languageEnglish
Pages (from-to)1161-1170
Number of pages10
JournalExpert Review of Neurotherapeutics
Volume15
Issue number10
DOIs
Publication statusPublished - Oct 3 2015

Fingerprint

Pharmacogenetics
Epilepsy
Carbamazepine
Genetic Testing
Anticonvulsants
Skin
HLA-B15 Antigen
Precision Medicine
Phenytoin
Genetic Markers
Drug Therapy
Sensitivity and Specificity
Genes
Therapeutics

Keywords

  • adverse drug reactions
  • antiepileptic drugs
  • efficacy
  • epilepsy
  • genetics
  • pharmacogenomics
  • pharmacoresistance

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Pharmacology (medical)

Cite this

The pharmacogenomics of epilepsy. / Franco, Valentina; Perucca, Emilio.

In: Expert Review of Neurotherapeutics, Vol. 15, No. 10, 03.10.2015, p. 1161-1170.

Research output: Contribution to journalArticle

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