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Orsini et al. J Transl Genet Genom 2018;2:16 Journal of Translational
DOI: 10.20517/jtgg.2018.14 Genetics and Genomics

Review Open Access

Personalized medicine in epilepsy patients

Alessandro Orsini , Mariagrazia Esposito , Daniele Perna , Alice Bonuccelli , Diego Peroni , Pasquale
2
1
1
1
1
Striano 3
1 Pediatric Neurology Unit, “A.O.U. Pisana”, University Hospital of Pisa, Pisa 56126, Italy.
2 Pediatric Department, “A.O.U. Pisana”, University Hospital of Pisa, Pisa 56126, Italy.
3 Pediatric Neurology and Muscular Diseases Unit, DINOGMI-Department Neurosciences, Rehabilitation, Ophthalmology, Genetics,
Maternal and Child Health University of Genoa, “G. Gaslini” Institute, Genova 16100, Italy.
Correspondence to: Dr. Mariagrazia Esposito, Pediatric Neurology Unit, “A.O.U. Pisana”, University Hospital of Pisa, Pisa 56126, Italy.
E-mail: maryagrazya@gmail.com; Dr. Daniele Perna, Pediatric Neurology Unit, “A.O.U. Pisana”, University Hospital of Pisa, Pisa 56126,
Italy. E-mail: daniele_perna@hotmail.it
How to cite this article: Orsini A, Esposito M, Perna D, Bonuccelli A, Peroni D, Striano P. Personalized medicine in epilepsy patients.
J Transl Genet Genom 2018;2:16. https://doi.org/10.20517/jtgg.2018.14

Received: 20 Jun 2018 First Decision: 16 Aug 2018 Revised: 26 Sep 2018 Accepted: 26 Sep 2018 Published: 25 Oct 2018
Science Editor: Sheng-Ying Qin Copy Editor: Cui Yu Production Editor: Zhong-Yu Guo

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

INTRODUCTION
Epilepsy is a medical condition defined by recurrent, or likely recurrent, seizures due to excessive electrical
[1]
discharges in a group of brain cells . Nowadays, treatment is limited to a wide range of antiepileptic drugs

© The Author(s) 2018. Open Access This article is licensed under a Creative Commons Attribution 4.0
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