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Molecular Insight into Epilepsy

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

Deadline for manuscript submissions: 10 April 2025 | Viewed by 4427

Special Issue Editor


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Guest Editor
Life Sciences Institute, University of Michigan, Ann Arbor, MI 48109, USA
Interests: voltage and ligand gated ion channel structure and function; channelopathies; signaling transduction; G-protein coupled receptors structure and function; epilepsy and metabolism; variants and pathogenic mutations
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Special Issue Information

Dear Colleagues,

Epilepsy is a complex disorder that can arise from a variety of molecular mechanisms. Some of the known mechanisms include:

  1. Ion channel dysfunction: Ion channels are proteins that regulate the flow of charged particles, such as sodium, potassium, and calcium ions, into and out of neurons. Mutations in genes that encode these ion channels can lead to abnormal electrical activity in the brain, increasing the likelihood of seizures.
  2. Synaptic transmission abnormalities: Communication between neurons in the brain occurs through the release and binding of neurotransmitters, which can be disrupted in epilepsy. Changes in the balance of excitatory and inhibitory neurotransmitters, such as glutamate and GABA, can alter the threshold for seizure activity.
  3. Abnormalities in neurotransmitter receptors: Changes in the structure or function of neurotransmitter receptors can affect their ability to bind to and respond to specific neurotransmitters, leading to altered neuronal activity and seizures.
  4. Gene mutations: Mutations in genes that regulate neuronal function, such as those involved in the regulation of ion channels or synaptic transmission, can contribute to the development of epilepsy.
  5. Inflammation: Inflammation in the brain, whether from infection, injury, or autoimmune conditions, can trigger seizures by altering neuronal activity.
  6. Metabolic abnormalities: Changes in metabolic processes, such as glucose metabolism, can also contribute to the development of epilepsy.

We will accept original research papers, short reports, and compelling, up-to-date reviews in any of the above categories. Since IJMS is a molecular science journal, pure clinical studies will not be suitable for our journal. However, studies of clinical or pure models with experiments of molecular mechanisms are welcome.

Dr. Ciria C. Hernandez
Guest Editor

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Keywords

  • ion channel dysfunction
  • synaptic transmission abnormalities
  • abnormalities in neurotransmitter receptors
  • gene mutations
  • inflammation
  • metabolic abnormalities

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Published Papers (2 papers)

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Research

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19 pages, 20180 KiB  
Article
Expression of Cytoskeletal Proteins (GFAP, Vimentin), Proapoptotic Protein (Caspase-3) and Protective Protein (S100) in the Epileptic Focus in Adults and Children with Drug-Resistant Temporal Lobe Epilepsy Associated with Focal Cortical Dysplasia
by Darya Sitovskaya, Yulia Zabrodskaya, Petr Parshakov, Tatyana Sokolova, Dmitry Kudlay, Anna Starshinova and Konstantin Samochernykh
Int. J. Mol. Sci. 2023, 24(19), 14490; https://doi.org/10.3390/ijms241914490 - 23 Sep 2023
Cited by 2 | Viewed by 1670
Abstract
The European Commission of the International League Against Epilepsy (ILAE) has identified glial mechanisms of seizures and epileptogenesis as top research priorities. The aim of our study was to conduct a comparative analysis of the expression levels of cytoskeletal proteins (glial fibrillar acidic [...] Read more.
The European Commission of the International League Against Epilepsy (ILAE) has identified glial mechanisms of seizures and epileptogenesis as top research priorities. The aim of our study was to conduct a comparative analysis of the expression levels of cytoskeletal proteins (glial fibrillar acidic protein (GFAP) and vimentin), protective protein S100, and proapoptotic caspase-3 protein in patients with drug-resistant epilepsy (DRE) associated with focal cortical dysplasia (FCD). We aimed to investigate how the expression levels of these proteins depend on age (both in children and adults), gender, and disease duration, using immunohistochemistry. Nonparametric statistical methods were employed for data analysis. In the epileptic focus area of the cortex and white matter in patients with FCD-associated temporal lobe DRE, a higher level of expression of these proteins was observed. Age and gender differences were found for vimentin and S100. In the early stages of disease development, there was a compensatory sequential increase in the expression of cytoskeletal and protective proteins. In patients with DRE, depending on the disease duration, patterns of development of neurodegeneration were noted, which is accompanied by apoptosis of gliocytes. These results provide insights into epilepsy mechanisms and may contribute to improving diagnostic and treatment approaches. Full article
(This article belongs to the Special Issue Molecular Insight into Epilepsy)
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Review

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26 pages, 2901 KiB  
Review
Mass Spectrometry as a Quantitative Proteomic Analysis Tool for the Search for Temporal Lobe Epilepsy Biomarkers: A Systematic Review
by Elena E. Timechko, Alexey M. Yakimov, Anastasia I. Paramonova, Anna A. Usoltseva, Nikita P. Utyashev, Nikita O. Ivin, Anna A. Utyasheva, Albina V. Yakunina, Vladimir A. Kalinin and Diana V. Dmitrenko
Int. J. Mol. Sci. 2023, 24(13), 11130; https://doi.org/10.3390/ijms241311130 - 5 Jul 2023
Cited by 1 | Viewed by 2248
Abstract
Temporal lobe epilepsy (TLE) is the most common form of epilepsy in adults. Tissue reorganization at the site of the epileptogenic focus is accompanied by changes in the expression patterns of protein molecules. The study of mRNA and its corresponding proteins is crucial [...] Read more.
Temporal lobe epilepsy (TLE) is the most common form of epilepsy in adults. Tissue reorganization at the site of the epileptogenic focus is accompanied by changes in the expression patterns of protein molecules. The study of mRNA and its corresponding proteins is crucial for understanding the pathogenesis of the disease. Protein expression profiles do not always directly correlate with the levels of their transcripts; therefore, it is protein profiling that is no less important for understanding the molecular mechanisms and biological processes of TLE. The study and annotation of proteins that are statistically significantly different in patients with TLE is an approach to search for biomarkers of this disease, various stages of its development, as well as a method for searching for specific targets for the development of a further therapeutic strategy. When writing a systematic review, the following aggregators of scientific journals were used: MDPI, PubMed, ScienceDirect, Springer, and Web of Science. Scientific articles were searched using the following keywords: “proteomic”, “mass-spectrometry”, “protein expression”, “temporal lobe epilepsy”, and “biomarkers”. Publications from 2003 to the present have been analyzed. Studies of brain tissues, experimental models of epilepsy, as well as biological fluids, were analyzed. For each of the groups, aberrantly expressed proteins found in various studies were isolated. Most of the studies omitted important characteristics of the studied patients, such as: duration of illness, type and response to therapy, gender, etc. Proteins that overlap across different tissue types and different studies have been highlighted: DPYSL, SYT1, STMN1, APOE, NME1, and others. The most common biological processes for them were the positive regulation of neurofibrillary tangle assembly, the regulation of amyloid fibril formation, lipoprotein catabolic process, the positive regulation of vesicle fusion, the positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway, removal of superoxide radicals, axon extension, and the regulation of actin filament depolymerization. MS-based proteomic profiling for a relevant study must accept a number of limitations, the most important of which is the need to compare different types of neurological and, in particular, epileptic disorders. Such a criterion could increase the specificity of the search work and, in the future, lead to the discovery of biomarkers for a particular disease. Full article
(This article belongs to the Special Issue Molecular Insight into Epilepsy)
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