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Orsini et al. J Transl Genet Genom 2018;2:16. I https://doi.org/10.20517/jtgg.2018.14 Page 13 of 18

type of epilepsy syndrome like Glut1 deficiency (chetogenic diet) or in GRIN2A mutations (memantine) or in
tuberous sclerosis complex (rapamycin), precision medicine is already possible with good results. The future
effort of the research must be to identify new drugs against specific pathogenic mechanisms, or a specific
action of mutated proteins, up to a gene replacement therapy, and also the individual genetic polymorphism
[143]
that could result in impaired effect of the conventional AEDs .
DECLARATIONS
Acknowledgments
We thank Wendy Doherty, native English speaker and English Lecturer at University of Pisa for her
assistance in screen and correct our manuscript for English language.

Authors’ contributions
Conceived the presented idea and planned this work, conceived the study and were in charge of overall
direction and planning: Orsini A, Striano P
Investigate specific aspects of “precision” medicine and supervised the findings of this work: Orsini A, Perna
D, Esposito M
Provided critical feedback and helped shape the research: Bonuccelli A, Striano P, Peroni D
Discussed the results and contributed to the final review: Orsini A, Esposito M, Perna D, Bonuccelli A,
Peroni D, Striano P

Availability of data and materials
Not applicable.

Financial support and sponsorship
None.

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
Not applicable.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2018.

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