Developing a gene panel for pharmacoresistant epilepsy: a review of epilepsy pharmacogenetics.

Astrid J Rodriguez-Acevedo, Louisa G Gordon, Nicola Waddell, Georgina Hollway, Lata Vadlamudi

Journal: Pharmacogenomics 2021;22(4):225-234

PMID: 33666520

Abstract

Evaluating genes involved in the pharmacodynamics and pharmacokinetics of epilepsy drugs is critical to better understand pharmacoresistant epilepsy. We reviewed the pharmacogenetics literature on six antiseizure medicines (carbamazepine, perampanel, lamotrigine, levetiracetam, sodium valproate and zonisamide) and compared the genes found with those present on epilepsy gene panels using a functional annotation pathway analysis. Little overlap was found between the two gene lists; pharmacogenetic genes are mainly involved in detoxification processes, while epilepsy panel genes are involved in cell signaling and gene expression. Our work provides support for a specific pharmacoresistant epilepsy gene panel to assist antiseizure medicine selection, enabling personalized approaches to treatment. Future efforts will seek to include this panel in genomic analyses of pharmacoresistant patients, to determine clinical utility and patient treatment responses.

Address: Department of Population Health, QIMR Berghofer Medical Research Institute, 300 Herston Road, Brisbane, QLD, 4006, Australia.; School of Nursing, Queensland University of Technology, Kelvin Grove, Brisbane, QLD, 4059, Australia.; School of Public Health, The University of Queensland, Brisbane, QLD, Australia.; GenomiQa Pty Ltd, Brisbane, QLD, Australia.; The University of Queensland, UQ Centre for Clinical Research, Herston, Brisbane, QLD, 4029, Australia.; Department of Neurology, Royal Brisbane & Women's Hospital, Herston, Brisbane, QLD, 4029, Australia.

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