The pharmacogenomics of epilepsy

Expert Review of Neurotherapeutics
Valentina Franco, Emilio Perucca

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.

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Citations

Nov 28, 2015·Pharmacological Research : the Official Journal of the Italian Pharmacological Society·Valentina FrancoEmilio Perucca
Jan 14, 2017·Neuroscience Letters·Simona Balestrini, Sanjay M Sisodiya
Jan 6, 2018·International Journal of Molecular Sciences·Armond DaciShaip Krasniqi
Oct 8, 2019·Pharmacogenomics·Nada BožinaDavor Sporiš
Dec 26, 2019·PeerJ·Kyung Wook KangMyeong-Kyu Kim
Dec 25, 2019·Disease Markers·Malek ChouchiLamia Hila
Jul 10, 2019·Epilepsy & Behavior : E&B·Boulenouar MesraouaAli A Asadi-Pooya
Mar 16, 2018·The Medical Journal of Australia·Piero PeruccaMichelle Kiley
Mar 6, 2021·Pharmacogenomics·Astrid J Rodriguez-AcevedoLata Vadlamudi
Jul 27, 2021·Frontiers in Pharmacology·Shitao WangYanbing Han
Nov 27, 2021·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Fabrizio VernieriUNKNOWN GARLIT Study Group

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