Page 28 - Read Online

Amadori et al. J Transl Genet Genom 2020;4:278-84 Journal of Translational
DOI: 10.20517/jtgg.2020.36 Genetics and Genomics

Case Report Open Access

Precision medicine in early-onset epilepsy: the
KCNQ2 paradigm

Elisabetta Amadori 1,2,* , Noemi Brolatti , Marcello Scala , Francesca Marchese , Maria Stella Vari , Luca
2
2,*
1
2
Antonio Ramenghi , Francesca Madia , Carlo Minetti , Pasquale Striano 1,2
1,2
4
3
1 Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa,
Genoa 16147, Italy.
2 Pediatric Neurology and Muscular Diseases Unit, IRCCS ‘G. Gaslini’ Institute, Genoa 16147, Italy.
3 Neonatal Intensive Care Unit, IRCCS ‘G. Gaslini’ Institute, Genoa 16147, Italy.
4 Unit of Medical Genetics, IRCCS 'G.Gaslini' Institute, Genoa 16147, Italy.
*Equally contributing authors.
Correspondence to: Prof. Pasquale Striano, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal
and Child Health, University of Genoa, Genoa 16147, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS ‘G. Gaslini’
Institute, Via Gerolamo Gaslini 5, Genoa 16147, Italy. E-mail: strianop@gmail.com
How to cite this article: Amadori E, Brolatti N, Scala M, Marchese F, Vari MS, Ramenghi LA, Madia F, Minetti C, Striano P.
Precision medicine in early-onset epilepsy: the KCNQ2 paradigm. J Transl Genet Genom 2020;4:278-84.
http://dx.doi.org/10.20517/jtgg.2020.36
Received: 31 May 2020 First Decision: 30 Jun 2020 Revised: 6 Jul 2020 Accepted: 10 Jul 2020 Available Online: 26 Jul 2020

Academic Editor: Ramón Cacabelos Copy Editor: Cai-Hong Wang Production Editor: Tian Zhang

Abstract
The identification of the genetic causes and the underlying pathogenic mechanisms in early-onset epilepsies has
proved to be essential in improving the efficacy of therapeutic decisions and the overall patient management,
especially in the era of precision medicine. We report an infant presenting with a cluster of focal motor seizures with
autonomic manifestations at day 3 of life. Electroencephalograms showed multifocal epileptic abnormalities and a
burst-suppression pattern. Neurological examination showed poor visual fixation and hypotonia. Neuroimaging was
normal. Seizures remitted with phenytoin and were well-controlled after the switch to oral carbamazepine. In the
hypothesis of a genetic etiology, next-generation sequencing panel for epileptic encephalopathies was performed
and identified a de novo missense mutation in KCNQ2: c.1742G>A; p.(Arg581Gln) (NM_172107.2). This case
report highlights the importance of the early recognition of the electroclinical phenotype and the detection of the
underlying genetic cause in the implementation of “tailored” therapies in early-onset genetic epilepsies.

Keywords: KCNQ2, early-onset epilepsy, developmental and epileptic encephalopathy, next-generation sequencing,
precision medicine, sodium channel blockers

© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license,
and indicate if changes were made.

www.jtggjournal.com