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Mohammadi et al. J Transl Genet Genom 2020;4:238-50 Journal of Translational
DOI: 10.20517/jtgg.2020.29 Genetics and Genomics

Review Open Access

Human induced pluripotent cells in personalized
treatment of monogenic epilepsies

Nazanin A. Mohammadi , Kristine Freude , Henriette Haukedal , Zeynep Tümer 3,4,* , Rikke S. Møller 1,5,*
2
1
2
1 The Danish Epilepsy Centre, Dianalund 4293, Denmark.
2 Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, København
N DK-2200, Denmark.
3 Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup DK-2600, Denmark.
4 Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, København N DK-2200,
Denmark.
5 Department of Regional Health Research, University of Southern Denmark, Odense 5230, Denmark.
*Contributed equally to the study.
Correspondence to: Dr. Rikke S. Møller, Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre,
Kolonivej 1, Dianalund 4293, Denmark. E-mail rimo@filadelfia.dk; Dr. Zeynep Tümer, Department of Clinical Medicine, Faculty
of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, København N DK-2200, Denmark.
E-mail: zeynep.tumer@regionh.dk
How to cite this article: Mohammadi NA, Freude K, Haukedal H, Tümer Z, Møller RS. Human induced pluripotent cells in
personalized treatment of monogenic epilepsies. J Transl Genet Genom 2020;4:238-50.
http://dx.doi.org/10.20517/jtgg.2020.29
Received: 22 Mar 2020 First Decision: 11 May 2020 Revised: 16 May 2020 Accepted: 28 May 2020 Available online: 10 Jul 2020

Academic Editor: Tjitske Kleefstra Copy Editor: Cai-Hong Wang Production Editor: Tian Zhang

Abstract
The broad application of next-generation sequencing in genetic diagnostics opens up vast possibilities for
personalized treatment of patients with genetic disorders including monogenic epilepsies. To translate genetic
findings into personalized medicine, mechanistic studies of the individual pathogenic variants and drug screening in
patient-specific in vitro models are very crucial. Recently, human induced pluripotent stem cell (hiPSC) technologies
have made it possible to generate patient-specific pluripotent cells, which can be directed to differentiate
into any given cell type. These hiPSCs are ideal for generating neurons to investigate specific neurological/
neurodevelopmental disorders. While two-dimensional single-cell models of hiPSC-derived neurons provide
reliable investigation of synaptic transmission and plasticity, cerebral organoids are superior in regard to functional
characterization and the study of cell-cell interactions in three-dimensional structures. In this review, we focus on
monogenic epilepsies and discuss the application of hiPSC models in personalized drug treatment based on the
patient’s specific genetic variants.

Keywords: Genetic epilepsy, human induced pluripotent stem cells, hiPSC, monogenic disorder, neurons, organoids,
personalized medicine

© 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
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