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Amadori et al. J Transl Genet Genom 2020;4:278-84  I  https://doi.org/10.20517/jtgg.2020.36                                      Page 283

               treatment decisions. This would, for instance, allow selecting SCBs from the beginning and avoid the usual
               trial-and-error approach that was also applied in our patient.


               DECLARATIONS
               Acknowledgments
               This work was developed within the framework of the DINOGMI Department of Excellence of MIUR 2018-
               2022 (legge 232 del 2016).


               Authors’ contributions
               Drafted the manuscript: Amadori E, Brolatti N
               Collected data: Brolatti N, Marchese F, Vari MS
               Analyzed and interpreted the electroclinical data: Amadori E, Marchese F, Vari MS
               Analyzed genetic data: Madia F
               Critically reviewed the manuscript: Scala M, Ramenghi LA, Minetti C, Striano P

               Availability of data and materials
               The datasets generated for this study can be found in Pediatric Neurology and Muscular Diseases Unit and
               Neonatal Intensive Care Unit of ‘G. Gaslini’ Institute.

               Financial support and sponsorship
               None.

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

               Ethical approval and consent to participation
               Not applicable.

               Consent for publication
               Not applicable.


               Copyright
               © The Author(s) 2020.


               REFERENCES
               1.   Orsini A, Zara F, Striano P. Recent advances in epilepsy genetics. Neurosci Lett 2018;667:4-9.
               2.   Hildebrand MS, Dahl HH, Damiano JA, Smith RJ, Scheffer IE, et al. Recent advances in the molecular genetics of epilepsy. J Med Genet
                   2013;50:271-9.
               3.   Cornet M, Cilio MR. Genetics of neonatal-onset epilepsies. Neonatal Neurology. Elsevier; 2019. pp. 415-33.
               4.   Glass HC, Shellhaas RA, Wusthoff CJ, Chang T, Abend NS, et al; Neonatal Seizure Registry Study Group. Contemporary profile of
                   seizures in neonates: a prospective cohort study. J Pediatr 2016;174:98-103.e1.
               5.   Symonds JD, Zuberi SM, Stewart K, McLellan A, O’Regan M, et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a
                   prospective population-based national cohort. Brain 2019;142:2303-18.
               6.   Miceli F, Soldovieri MV, Joshi N, Weckhuysen S, Cooper E, et al. KCNQ2-Related disorders. In: Adam MP, Ardinger HH, Pagon RA,
                   Wallace SE, Bean LJH, et al, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
               7.   Millichap JJ, Park KL, Tsuchida T, Ben-Zeev B, Carmant L, et al. KCNQ2 encephalopathy: features, mutational hot spots, and ezogabine
                   treatment of 11 patients. Neurol Genet 2016;2:e96.
               8.   Striano P, Minassian BA. From genetic testing to precision medicine in epilepsy. Neurotherapeutics 2020;17:609-15.
               9.   Kuersten M, Tacke M, Gerstl L, Hoelz H, Stülpnagel CV, et al. Antiepileptic therapy approaches in KCNQ2 related epilepsy: a systematic
                   review. Eur J Med Genet 2020;63:103628.
               10.   Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, et al. A potassium channel mutation in neonatal human epilepsy. Science
                   1998;279:403-6.
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