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Biomedicines
Special Issues
Advance in Genetic Research of Epilepsy
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Advance in Genetic Research of Epilepsy

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".

Deadline for manuscript submissions: closed (31 January 2024) | Viewed by 2679

Special Issue Editor

Dr. Antonietta Coppola

E-Mail Website
Guest Editor
Department of Neuroscience, Odontostomatology and Reproductive Sciences, University of Naples Federico II, Naples, Italy
Interests: epilepsy; genetics; developmental and epileptic encephalopathy; antiseizure medication; elettroncephalography

Special Issue Information

Dear Colleagues,

Over the last two decades, the landscape of epilepsy genetics has increasingly grown thanks to the availability of advanced genetic testing. Many new genes have been linked to various types of epilepsy and especially developmental and epileptic encephalopathies (DEE). In addition, epilepsy has been linked with microCNVs defining specific syndromic conditions. Furthermore, although rarely, epilepsy has been linked to non-coding repeated expansion.

These genetic discoveries have improved our understanding of the molecular and cellular pathways involved in epilepsy, transforming our clinical practice. The most exciting implication is the possibility to provide new targets for the development of precision.

This Special Issue will cover the following research topics:

  • Current use of genetic testing in clinical and research settings;
  • Developmental and epileptic encephalopathies-associated genes;
  • CNVs-associated epilepsies;
  • Repeated expansion disorders and epilepsy.

Dr. Antonietta Coppola
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. Biomedicines is an international peer-reviewed open access monthly 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 2600 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

  • genetics
  • CNV
  • non-coding repeated expansions
  • DEE
  • de novo rare variants

Published Papers (1 paper)

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Review

17 pages, 1231 KiB  
Review
The Evolving Landscape of Therapeutics for Epilepsy in Tuberous Sclerosis Complex
by Giovanni Vitale, Gaetano Terrone, Samuel Vitale, Francesca Vitulli, Salvatore Aiello, Carmela Bravaccio, Simone Pisano, Ilaria Bove, Francesca Rizzo, Panduranga Seetahal-Maraj and Thomas Wiese
Biomedicines 2023, 11(12), 3241; https://doi.org/10.3390/biomedicines11123241 - 7 Dec 2023
Viewed by 2255
Abstract
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by benign tumor growth in multiple organs, including the brain, kidneys, heart, eyes, lungs, and skin. Pathogenesis stems from mutations in either the TSC1 or TSC2 gene, which encode the proteins hamartin [...] Read more.
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by benign tumor growth in multiple organs, including the brain, kidneys, heart, eyes, lungs, and skin. Pathogenesis stems from mutations in either the TSC1 or TSC2 gene, which encode the proteins hamartin and tuberin, respectively. These proteins form a complex that inhibits the mTOR pathway, a critical regulator of cell growth and proliferation. Disruption of the tuberin–hamartin complex leads to overactivation of mTOR signaling and uncontrolled cell growth, resulting in hamartoma formation. Neurological manifestations are common in TSC, with epilepsy developing in up to 90% of patients. Seizures tend to be refractory to medical treatment with anti-seizure medications. Infantile spasms and focal seizures are the predominant seizure types, often arising in early childhood. Drug-resistant epilepsy contributes significantly to morbidity and mortality. This review provides a comprehensive overview of the current state of knowledge regarding the pathogenesis, clinical manifestations, and treatment approaches for epilepsy and other neurological features of TSC. While narrative reviews on TSC exist, this review uniquely synthesizes key advancements across the areas of TSC neuropathology, conventional and emerging pharmacological therapies, and targeted treatments. The review is narrative in nature, without any date restrictions, and summarizes the most relevant literature on the neurological aspects and management of TSC. By consolidating the current understanding of TSC neurobiology and evidence-based treatment strategies, this review provides an invaluable reference that highlights progress made while also emphasizing areas requiring further research to optimize care and outcomes for TSC patients. Full article
(This article belongs to the Special Issue Advance in Genetic Research of Epilepsy)
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