Personalized medicine in epilepsy patients

Alessandro Orsini , Mariagrazia Esposito , Daniele Perna , Alice Bonuccelli , Diego Peroni , Pasquale Striano

Journal of Translational Genetics and Genomics ›› : 16

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Journal of Translational Genetics and Genomics ›› :16 DOI: 10.20517/jtgg.2018.14
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Personalized medicine in epilepsy patients

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Abstract

The large number of different syndromes and seizure types together with an interindividual variable response to antiepileptic drugs (AEDs) make the treatment of epilepsy challenging. Fortunately, the last few years have been characterized by a huge interest in epilepsy genetics and two methods, genome-wide analyses and next-generation sequencing, have definitely given the possibility to write a new chapter in the book of treatment of epilepsy, the chapter on precision medicine. Epilepsy offers a good opportunity for the personalization of therapy if we consider that at least one third of epileptic patients do not achieve complete seizure control with the currently available pharmacological treatments, treatment is still often empirical and precise therapy, based on the pathogenesis and the mechanism of each AED is not generally possible because this mechanism often remains incompletely known. In addition, new drugs are often not targeted but developed using in vivo seizure models, to be potentially used by the largest number of patients. This method leads to a therapy aimed at treating the symptoms and the seizures rather than the single pathogenic mechanism of each seizure type or syndrome. In this narrative review, we summarize the established evidence regarding pharmacogenomics in epilepsy and discuss the basis of precision medicine.

Keywords

Precision medicine / epilepsy treatment / antiepileptic drugs / next generation sequencing / pharmacogenomics in epilepsy

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Alessandro Orsini, Mariagrazia Esposito, Daniele Perna, Alice Bonuccelli, Diego Peroni, Pasquale Striano. Personalized medicine in epilepsy patients. Journal of Translational Genetics and Genomics 16 DOI:10.20517/jtgg.2018.14

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