Pharmacogenomics in epilepsy

NEUROSCIENCE LETTERS

卷:667

Review

Balestrini, Simona^1,2,3  Sisodiya, Sanjay M.^1,2 

[1] Univ Coll London Hosp, UCL Inst Neurol, NIHR, Biomed Res Ctr,Dept Clin & Expt Epilepsy, London, England

[2] Epilepsy Soc, Gerrards Cross, Bucks, England

[3] Polytech Univ Marche, Neurosci Dept, Ancona, Italy

关键词: Pharmacokinetics;    Pharmacodynamics;    Precision medicine;    Epilepsy;    Drug resistance;    Drug response;    Adverse drug reactions;    Pharmacogenomics;   

DOI  :  10.1016/j.neulet.2017.01.014

来源: Elsevier

【 摘 要 】

There is high variability in the response to antiepileptic treatment across people with epilepsy. Genetic factors significantly contribute to such variability. Recent advances in the genetics and neurobiology of the epilepsies are establishing the basis for a new era in the treatment of epilepsy, focused on each individual and their specific epilepsy. Variation in response to antiepileptic drug treatment may arise from genetic variation in a range of gene categories, including genes affecting drug pharmacokinetics, and drug pharmacodynamics, but also genes held to actually cause the epilepsy itself. From a purely pharmacogenetic perspective, there are few robust genetic findings with established evidence in epilepsy. Many findings are still controversial with anecdotal or less secure evidence and need further validation, e.g. variation in genes for transporter systems and antiepileptic drug targets. The increasing use of genetic sequencing and the results of large-scale collaborative projects may soon expand the established evidence. Precision medicine treatments represent a growing area of interest, focussing on reversing or circumventing the pathophysiological effects of specific gene mutations. This could lead to a dramatic improvement of the effectiveness and safety of epilepsy treatments, by targeting the biological mechanisms responsible for epilepsy in each specific individual. Whilst much has been written about epilepsy pharmacogenetics, there does now seem to be building momentum that promises to deliver results of use in clinic. (C) 2017 The Authors. Published by Elsevier Ireland Ltd.

【 授权许可】

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