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Cells
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Renewing Reasons to Believe in Gene Therapies for Epilepsy
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Renewing Reasons to Believe in Gene Therapies for Epilepsy

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cells of the Nervous System".

Deadline for manuscript submissions: 31 August 2025 | Viewed by 2864

Special Issue Editor

Dr. Casper Gøtzsche

E-Mail Website
Guest Editor
Department of Neuroscience, University of Copenhagen, Copenhagen, Denmark
Interests: neuroscience; CNS diseases; translational research; gene therapy; cell therapy

Special Issue Information

Dear Colleagues,

The advancement of gene therapy, including its continuous expansion into new land, its ability to overcome challenges, and its delivery on its promises, is an exciting area of research. It has expanded from being reserved for highly specific experimental therapies in rare diseases only to now also addressing unmet needs in more common diseases. Epilepsy has both rare genetic variants and broad idiopathic and sporadic indications, and is, as such, a highly interesting field for the development of new life-changing therapies.

We encourage authors to submit their works in the form of original research or review overviews, related to the exploration of innovative approaches, translational research, and new targets in gene therapies targeting epilepsy. This Special Issue focuses primarily on gene transference, gene editing, and ex vivo cell gene therapy. Within its scope is also the topic of gene technologies exploring important disease characteristics and mechanisms, which could allow for new discoveries and inspire the development of new innovative therapies.

Dr. Casper Gøtzsche
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • epilepsy
  • seizure
  • gene therapy
  • gene editing
  • disease modification
  • transformative
  • unmet need

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Published Papers (2 papers)

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Research

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29 pages, 6683 KiB  
Article
Generation and Characterization of Three Novel Mouse Mutant Strains Susceptible to Audiogenic Seizures
by Elena G. Varlamova, Vera P. Kuldaeva, Natalia N. Mitina, Maria S. Gavrish, Elena V. Kondakova, Victor S. Tarabykin, Alexei A. Babaev and Egor A. Turovsky
Cells 2024, 13(21), 1747; https://doi.org/10.3390/cells13211747 - 22 Oct 2024
Viewed by 1323
Abstract
The mechanisms of epileptogenesis after brain injury, ischemic stroke, or brain tumors have been extensively studied. As a result, many effective antiseizure drugs have been developed. However, there are still many patients who are resistant to therapy. The molecular and genetic bases regarding [...] Read more.
The mechanisms of epileptogenesis after brain injury, ischemic stroke, or brain tumors have been extensively studied. As a result, many effective antiseizure drugs have been developed. However, there are still many patients who are resistant to therapy. The molecular and genetic bases regarding such drug-resistant seizures have been poorly elucidated. In many cases, heavy seizures are instigated by brain development malformations and often caused by gene mutations. Such malformations can be demonstrated in mouse models by generating mutant strains. One of the most potent mutagens is ENU (N-ethyl-N-nitrosourea). In the present study, we describe three novel mutant strains generated by ENU-directed mutagenesis. Two of these strains present a very strong epileptic phenotype triggered by audiogenic stimuli (G9-1 and S5-1 strains). The third mouse strain is characterized by behavioral disorders and hyperexcitation of neuronal networks. We identified changes in the expression of those genes encoding neurotransmission proteins in the cerebral cortexes of these mice. It turned out that the G9-1 strain demonstrated the strongest disruptions in the expression of those genes encoding plasma membrane channels, excitatory glutamate receptors, and protein kinases. On the other hand, the number of GABAergic neurons was also affected by the mutation. All three lines are characterized by increased anxiety, excitability, and suppressed motor and orientational–exploratory activities. On the other hand, the strains with an epileptic phenotype—G9-1 and S5-1ave reduced learning ability, and the A9-2 mice line retains high learning ability. Full article
(This article belongs to the Special Issue Renewing Reasons to Believe in Gene Therapies for Epilepsy)
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Review

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66 pages, 805 KiB  
Review
Regulatory Elements for Gene Therapy of Epilepsy
by Ekaterina Chesnokova, Natalia Bal, Ghofran Alhalabi and Pavel Balaban
Cells 2025, 14(3), 236; https://doi.org/10.3390/cells14030236 - 6 Feb 2025
Viewed by 1144
Abstract
The problem of drug resistance in epilepsy means that in many cases, a surgical treatment may be advised. But this is only possible if there is an epileptic focus, and resective brain surgery may have adverse side effects. One of the promising alternatives [...] Read more.
The problem of drug resistance in epilepsy means that in many cases, a surgical treatment may be advised. But this is only possible if there is an epileptic focus, and resective brain surgery may have adverse side effects. One of the promising alternatives is gene therapy, which allows the targeted expression of therapeutic genes in different brain regions, and even in specific cell types. In this review, we provide detailed explanations of some key terms related to genetic engineering, and describe various regulatory elements that have already been used in the development of different approaches to treating epilepsy using viral vectors. We compare a few universal promoters for their strength and duration of transgene expression, and in our description of cell-specific promoters, we focus on elements driving expression in glutamatergic neurons, GABAergic neurons and astrocytes. We also explore enhancers and some other cis-regulatory elements currently used in viral vectors for gene therapy, and consider future perspectives of state-of-the-art technologies for designing new, stronger and more specific regulatory elements. Gene therapy has multiple advantages and should become more common in the future, but there is still a lot to study and invent in this field. Full article
(This article belongs to the Special Issue Renewing Reasons to Believe in Gene Therapies for Epilepsy)
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