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Molecular Advances in Epilepsy and Seizures
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Molecular Advances in Epilepsy and Seizures

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: 30 November 2024 | Viewed by 8763

Special Issue Editor

Dr. Sara Matricardi

E-Mail Website
Guest Editor
Department of Pediatrics, University of Chieti, Chieti, Italy
Interests: epilepsy; antiseizure medications; autoimmune etiologies; epilepsy genetics; mitochondrial epilepsy; ketogenic diet

Special Issue Information

Dear Colleagues,

Recent advances in neurogenetics, neuroimaging, and neurophysiology have favored developing and identifying biomarkers that allow for an earlier and more accurate etiological diagnosis of epilepsy. Furthermore, the development of experimental models of epilepsy has allowed a better understanding of the underlying pathophysiological mechanisms and the identification of therapies tailored to specific etiologies.

The field of epilepsy has progressed over the last decade and is now entering the era of "precision medicine". Our understanding of the etiologies of epilepsy, including its genetic, structural, and immune causes, has now made it possible to identify specific targets in some patients for therapies that go beyond antiseizure medications and enable the treatment of the cause of epilepsy. This advance is the beginning of a significant shift in the epilepsy treatment paradigm as we enter the era of therapies that target the cause and underlying mechanisms of epilepsy.

This Special Issue, “Molecular Advances in Epilepsy and Seizures”, will cover a selection of recent molecular studies and current review articles about the contribution of alterations in brain functioning to seizure activity. We are particularly interested in articles describing: (i) genetic, metabolic, and inflammatory findings in epilepsy; (ii) new concepts explaining seizure generation by functional studies or molecular biomarkers; and (iii) the use of new strategies for treatment and neuroprotection in genetic, metabolic, and autoimmune epilepsies.

Dr. Sara Matricardi
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.

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Published Papers (5 papers)

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Research

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26 pages, 1701 KiB  
Article
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study
by Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli and Carlo Fusco
Int. J. Mol. Sci. 2024, 25(2), 1248; https://doi.org/10.3390/ijms25021248 - 19 Jan 2024
Cited by 4 | Viewed by 2429
Abstract
The genetic causes of epilepsies and developmental and epileptic encephalopathies (DEE) with onset in early childhood are increasingly recognized. Their outcomes vary from benign to severe disability. In this paper, we wished to retrospectively review the clinical, genetic, EEG, neuroimaging, and outcome data [...] Read more.
The genetic causes of epilepsies and developmental and epileptic encephalopathies (DEE) with onset in early childhood are increasingly recognized. Their outcomes vary from benign to severe disability. In this paper, we wished to retrospectively review the clinical, genetic, EEG, neuroimaging, and outcome data of patients experiencing the onset of epilepsy in the first three years of life, diagnosed and followed up in four Italian epilepsy centres (Epilepsy Centre of San Paolo University Hospital in Milan, Child Neurology and Psychiatry Unit of AUSL-IRCCS di Reggio Emilia, Pediatric Neurology Unit of Vittore Buzzi Children’s Hospital, Milan, and Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia). We included 168 patients (104 with monogenic conditions, 45 with copy number variations (CNVs) or chromosomal abnormalities, and 19 with variants of unknown significance), who had been followed up for a mean of 14.75 years. We found a high occurrence of generalized seizures at onset, drug resistance, abnormal neurological examination, global developmental delay and intellectual disability, and behavioural and psychiatric comorbidities. We also documented differing presentations between monogenic issues versus CNVs and chromosomal conditions, as well as atypical/rare phenotypes. Genetic early-childhood-onset epilepsies and DEE show a very wide phenotypic and genotypic spectrum, with a high risk of complex neurological and neuropsychiatric phenotypes. Full article
(This article belongs to the Special Issue Molecular Advances in Epilepsy and Seizures)
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17 pages, 1894 KiB  
Article
Postischemic Infusion of Apigenin Reduces Seizure Burden in Preterm Fetal Sheep
by Kenta H. T. Cho, Natalya Hounsell, Evelyn McClendon, Art Riddle, Basappa, Simerdeep K. Dhillon, Laura Bennet, Stephen Back, Larry S. Sherman, Alistair J. Gunn and Justin M. Dean
Int. J. Mol. Sci. 2023, 24(23), 16926; https://doi.org/10.3390/ijms242316926 - 29 Nov 2023
Viewed by 1419
Abstract
Seizures are common in preterm newborns and are associated with poor neurodevelopmental outcomes. Current anticonvulsants have poor efficacy, and many have been associated with upregulation of apoptosis in the developing brain. Apigenin, a natural bioactive flavonoid, is a potent inhibitor of hyaluronidase and [...] Read more.
Seizures are common in preterm newborns and are associated with poor neurodevelopmental outcomes. Current anticonvulsants have poor efficacy, and many have been associated with upregulation of apoptosis in the developing brain. Apigenin, a natural bioactive flavonoid, is a potent inhibitor of hyaluronidase and reduces seizures in adult animal models. However, its impact on perinatal seizures is unclear. In the present study, we examined the effect of apigenin and S3, a synthetic, selective hyaluronidase inhibitor, on seizures after cerebral ischemia in preterm fetal sheep at 0.7 gestation (98–99 days, term ~147 days). Fetuses received sham ischemia (n = 9) or ischemia induced by bilateral carotid occlusion for 25 min. Immediately after ischemia, fetuses received either a continuous infusion of vehicle (0.036% dimethyl sulfoxide, n = 8) or apigenin (50 µM, n = 6). In a pilot study, we also tested infusion of S3 (2 µM, n = 3). Fetuses were monitored continuously for 72 h after ischemia. Infusion of apigenin or S3 were both associated with reduced numbers of animals with seizures, total seizure time, and mean seizure burden. S3 was also associated with a reduction in the total number of seizures over the 72 h recovery period. In animals that developed seizures, apigenin was associated with earlier cessation of seizures. However, apigenin or S3 treatment did not alter recovery of electroencephalographic power or spectral edge frequency. These data support that targeting brain hyaluronidase activity with apigenin or S3 may be an effective strategy to reduce perinatal seizures following ischemia. Further studies are required to determine their effects on neurohistological outcomes. Full article
(This article belongs to the Special Issue Molecular Advances in Epilepsy and Seizures)
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Review

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25 pages, 1200 KiB  
Review
Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved
by Giovanna Scorrano, Ludovica Di Francesco, Armando Di Ludovico, Francesco Chiarelli and Sara Matricardi
Int. J. Mol. Sci. 2024, 25(22), 11982; https://doi.org/10.3390/ijms252211982 - 7 Nov 2024
Viewed by 945
Abstract
Neurodevelopmental disorders (NDDs) are a group of conditions affecting brain development, with variable degrees of severity and heterogeneous clinical features. They include intellectual disability (ID), autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), often coexisting with epilepsy, extra-neurological comorbidities, and multisystemic involvement. In recent [...] Read more.
Neurodevelopmental disorders (NDDs) are a group of conditions affecting brain development, with variable degrees of severity and heterogeneous clinical features. They include intellectual disability (ID), autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), often coexisting with epilepsy, extra-neurological comorbidities, and multisystemic involvement. In recent years, next-generation sequencing (NGS) technologies allowed the identification of several gene pathogenic variants etiologically related to these disorders in a large cohort of affected children. These genes encode proteins involved in synaptic homeostasis, such as SNARE proteins, implicated in calcium-triggered pre-synaptic release of neurotransmitters, or channel subunit proteins, such as post-synaptic ionotropic glutamate receptors involved in the brain’s fast excitatory neurotransmission. In this narrative review, we dissected emerged molecular mechanisms related to NDDs and epilepsy due to defects in pre- and post-synaptic transmission. We focused on the most recently discovered SNAREopathies and AMPA-related synaptopathies. Full article
(This article belongs to the Special Issue Molecular Advances in Epilepsy and Seizures)
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30 pages, 18286 KiB  
Review
X-Linked Epilepsies: A Narrative Review
by Pia Bernardo, Claudia Cuccurullo, Marica Rubino, Gabriella De Vita, Gaetano Terrone, Leonilda Bilo and Antonietta Coppola
Int. J. Mol. Sci. 2024, 25(7), 4110; https://doi.org/10.3390/ijms25074110 - 8 Apr 2024
Viewed by 2241
Abstract
X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked intellectual disability. To date, various X-linked genes responsible for epilepsy syndromes and/or developmental and epileptic encephalopathies have been recognized. The electro-clinical phenotype is well described for some genes in [...] Read more.
X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked intellectual disability. To date, various X-linked genes responsible for epilepsy syndromes and/or developmental and epileptic encephalopathies have been recognized. The electro-clinical phenotype is well described for some genes in which epilepsy represents the core symptom, while less phenotypic details have been reported for other recently identified genes. In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19-related DEE, CDKL5-related DEE, MECP2-related disorders), forms of epilepsy related to X-linked neuronal migration disorders (e.g., ARX, DCX, FLNA) and DEEs associated with recently recognized genes (e.g., SLC9A6, SLC35A2, SYN1, ARHGEF9, ATP6AP2, IQSEC2, NEXMIF, PIGA, ALG13, FGF13, GRIA3, SMC1A). It is often difficult to suspect an X-linked mode of transmission in an epilepsy syndrome. Indeed, different models of X-linked inheritance and modifying factors, including epigenetic regulation and X-chromosome inactivation in females, may further complicate genotype–phenotype correlations. The purpose of this work is to provide an extensive and updated narrative review of X-linked epilepsies. This review could support clinicians in the genetic diagnosis and treatment of patients with epilepsy featuring X-linked inheritance. Full article
(This article belongs to the Special Issue Molecular Advances in Epilepsy and Seizures)
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Other

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8 pages, 7630 KiB  
Case Report
Case Report: Molecular Analyses of Cell-Cycle-Related Genes in Cortical Brain Tissue of a Patient with Rasmussen Encephalitis
by João Ismael Budelon Gonçalves, Vinicius Rosa de Castro, William Alves Martins, Fernando Antonio Costa Xavier, Jaderson Costa Da Costa, Eliseu Paglioli Neto, André Palmini and Daniel Rodrigo Marinowic
Int. J. Mol. Sci. 2024, 25(15), 8487; https://doi.org/10.3390/ijms25158487 - 3 Aug 2024
Cited by 1 | Viewed by 943
Abstract
Rasmussen’s encephalitis (RE) stands as a rare neurological disorder marked by progressive cerebral hemiatrophy and epilepsy resistant to medical treatment. Despite extensive study, the primary cause of RE remains elusive, while its histopathological features encompass cortical inflammation, neuronal degeneration, and gliosis. The underlying [...] Read more.
Rasmussen’s encephalitis (RE) stands as a rare neurological disorder marked by progressive cerebral hemiatrophy and epilepsy resistant to medical treatment. Despite extensive study, the primary cause of RE remains elusive, while its histopathological features encompass cortical inflammation, neuronal degeneration, and gliosis. The underlying molecular mechanisms driving disease progression remain largely unexplored. In this case study, we present a patient with RE who underwent hemispherotomy and has remained seizure-free for over six months, experiencing gradual motor improvement. Furthermore, we conducted molecular analysis on the excised brain tissue, unveiling a decrease in the expression of cell-cycle-associated genes coupled with elevated levels of BDNF and TNF-α proteins. These findings suggest the potential involvement of cell cycle regulators in the progression of RE. Full article
(This article belongs to the Special Issue Molecular Advances in Epilepsy and Seizures)
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