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Epilepsy Research and Antiepileptic Drugs 2.0
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Epilepsy Research and Antiepileptic Drugs 2.0

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pharmacology".

Deadline for manuscript submissions: 15 June 2024 | Viewed by 1401

Special Issue Editor

Dr. Sonia Mayo

E-Mail Website
Guest Editor
Genetics and Inheritance Research Group, Instituto de Investigación Sanitaria Hospital 12 de Octubre, 28041 Madrid, Spain
Interests: genetics; epigenetics; epilepsy

Special Issue Information

Dear Colleagues,

Epilepsy is a chronic neurologic disorder affecting more than 50 million people worldwide. Epileptic patients, especially those with drug resistance, face increased risks of premature death, injuries, and psychosocial dysfunction, as well as reduced health-related quality of life. Moreover, approximately 30% of these patients present refractory epilepsy (RE), defined as “failure of adequate trials of two tolerated and appropriately chosen and used anti-seizure medication schedules (whether as monotherapies or in combination) to achieve sustained seizure freedom”. The etiology of epileptics’ disorders is unknown in an estimated 60% of patients. However, in up to 70–80% of the cases, some genetic component is present. Hundreds of genes are known to be involved in epilepsy, and the number continues to rise. For this reason, the use of screening techniques such as whole-exome sequencing (WES) and/or whole-genome sequencing (WGS) has allowed the identification of new pathological genes and, in many cases, molecular diagnosis. Although drug resistance in epilepsy is likely to be multifactorial, the molecular mechanisms underlying it are poorly understood. It remains impossible to explain why only some patients with the same type of epilepsy and matching etiologies develop refractory epilepsy after treatment.

This Special Issue, entitled “Epilepsy Research and Antiepileptic Drugs 2.0”, will continue the work of previous publications on the etiology of epilepsy, with an especial focus on refractory epilepsy. In the first edition of the SI, 10 papers were published; we sincerely welcome you to read these and contribute to this 2nd edition. Experimental papers sharing new data and up-to-date review articles are welcome.

Dr. Sonia Mayo
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • refractory epilepsy
  • pharmacoresistant epilepsy
  • antiepileptic drug
  • seizure
  • molecular mechanisms
  • prognosis
  • pharmacogenomics

Published Papers (2 papers)

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14 pages, 1299 KiB  
Review
NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies
by Alba Gabaldon-Albero, Sonia Mayo and Francisco Martinez
Int. J. Mol. Sci. 2024, 25(10), 5198; https://doi.org/10.3390/ijms25105198 - 10 May 2024
Viewed by 409
Abstract
The NR4A2 gene encodes an orphan transcription factor of the steroid–thyroid hormone–retinoid receptor superfamily. This review focuses on the clinical findings associated with the pathogenic variants so far reported, including three unreported cases. Also, its role in neurodegenerative diseases, such as Parkinson’s or [...] Read more.
The NR4A2 gene encodes an orphan transcription factor of the steroid–thyroid hormone–retinoid receptor superfamily. This review focuses on the clinical findings associated with the pathogenic variants so far reported, including three unreported cases. Also, its role in neurodegenerative diseases, such as Parkinson’s or Alzheimer’s disease, is examined, as well as a brief exploration on recent proposals to develop novel therapies for these neurological diseases based on small molecules that could modulate NR4A2 transcriptional activity. The main characteristic shared by all patients is mild to severe developmental delay/intellectual disability. Moderate to severe disorder of the expressive and receptive language is present in at least 42%, while neuro-psychiatric issues were reported in 53% of patients. Movement disorders, including dystonia, chorea or ataxia, are described in 37% patients, although probably underestimated because of its frequent onset in late adolescence–young adulthood. Finally, epilepsy was surprisingly present in 42% of patients, being drug-resistant in three of them. The age at onset varied widely, from five months to twenty-six years, as did the classification of epilepsy, which ranged from focal epilepsy to infantile spasms or Lennox–Gastaut syndrome. Accordingly, we propose that NR4A2 should be considered as a first-tier target gene for the genetic diagnosis of developmental and epileptic encephalopathy. Full article
(This article belongs to the Special Issue Epilepsy Research and Antiepileptic Drugs 2.0)
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11 pages, 1187 KiB  
Brief Report
Caffeine Decreases Topiramate Levels in Zebrafish Larvae in a Pentylenetetrazol-Induced Seizure Model
by Adrian Bartoszek, Agata Sumara, Anna Kozub-Pędrak, Alicja Trzpil, Anna Stachniuk and Emilia Fornal
Int. J. Mol. Sci. 2024, 25(6), 3309; https://doi.org/10.3390/ijms25063309 - 14 Mar 2024
Viewed by 669
Abstract
Epilepsy ranks as the second-most prevalent neurological disease, and is characterized by seizures resulting in neurobiological and behavioral impairment. Naturally occurring in coffee beans or tea leaves, the alkaloid caffeine (CAF) is the most prevalent global stimulant. Caffeine has been observed to influence [...] Read more.
Epilepsy ranks as the second-most prevalent neurological disease, and is characterized by seizures resulting in neurobiological and behavioral impairment. Naturally occurring in coffee beans or tea leaves, the alkaloid caffeine (CAF) is the most prevalent global stimulant. Caffeine has been observed to influence epileptic seizures and the efficacy of antiepileptic medications, with a notable impact on topiramate (TPM). This study aimed to explore the influence of CAF on TPM’s anticonvulsant effects in zebrafish larvae within a PTZ-induced seizure model, concurrently determining TPM concentrations through a sophisticated analytical approach based on ultrahigh-performance liquid chromatography and subsequent mass spectrometric detection. Zebrafish larvae four days post-fertilization were incubated for 18 h with varying doses of TPM or combinations of CAF + TPM, and locomotor activity was then assessed. Seizures were induced by introducing a PTZ solution to achieve a final concentration of 20 mM. Utilizing liquid chromatography–mass spectrometry (LC–MS/MS), TPM levels in the larvae were quantified. CAF co-administration (especially in higher doses) with TPM caused a decrease in the average locomotor activity in the larvae compared to TPM alone. Moreover, CAF decreased TPM levels in the larvae at all investigated doses. In conclusion, these findings offer a novel perspective on the interplay between CAF and TPM, shedding light on previously unexplored facets. The potential impact of CAF consumption in assisting with epileptic seizure control, unless proven otherwise, suggests a noteworthy consideration for future research and clinical practices. Full article
(This article belongs to the Special Issue Epilepsy Research and Antiepileptic Drugs 2.0)
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