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Epilepsy: Causes, Symptoms, Diagnosis, and Treatment
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Epilepsy: Causes, Symptoms, Diagnosis, and Treatment

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Neurology".

Deadline for manuscript submissions: closed (20 January 2025) | Viewed by 17996

Special Issue Editor

Dr. Emanuele Bartolini

E-Mail Website
Guest Editor
Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy
Interests: neurological diseases; brain; neurology; neuroscience; neuroimaging; fMRI; 7 Tesla; EEG; genetics

Special Issue Information

Dear Colleagues,

Epilepsy is a diffuse neurological condition with a remarkable impact on public health. Acknowledging its paramount importance, the 75th World Health Assembly adopted the Intersectoral Global Action Plan on Epilepsy and Other Neurological Disorders 2022–2031 (IGAP) on May 27. The incidence of epilepsy follows a U-shaped bimodal distribution, with peaks in early infancy and in the elderly. About 70% of people with epilepsy can enter seizure freedom with treatment. Nevertheless, both diagnostic and treatment gaps exist in every country in the world, and there is a social stigma associated with epilepsy. To optimize epilepsy management, the awareness of the heterogeneous etiologies and of the variable seizure semeiology should be disseminated at the public level.  A shared diagnostic algorithm should be pursued. Advanced neuroimaging and molecular diagnostics may indeed suggest tailored treatment in selected patients, as a precision medicine approach. The present Special Issue aims to collect innovative single reports and case series, critical reviews, out-of-the box viewpoints, and experimental findings focused on the diagnosis, management, and treatment of epilepsy with a focus on the future.

Dr. Emanuele Bartolini
Guest Editor

Manuscript Submission Information

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Keywords

  • neurological diseases
  • brain
  • neurology
  • neuroscience
  • neuroimaging
  • fMRI
  • EEG
  • genetics

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Published Papers (7 papers)

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Research

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14 pages, 1833 KiB  
Article
Valproic Acid and Lamotrigine Differentially Modulate the Telomere Length in Epilepsy Patients
by Salvador Sánchez-Badajos, Alberto Ortega-Vázquez, Marisol López-López and Nancy Monroy-Jaramillo
J. Clin. Med. 2025, 14(1), 255; https://doi.org/10.3390/jcm14010255 - 3 Jan 2025
Viewed by 1002
Abstract
Background/Objectives: Antiseizure drugs (ASDs) are the primary therapy for epilepsy, and the choice varies according to seizure type. Epilepsy patients experience chronic mitochondrial oxidative stress and increased levels of pro-inflammatory mediators, recognizable hallmarks of biological aging; however, few studies have explored aging [...] Read more.
Background/Objectives: Antiseizure drugs (ASDs) are the primary therapy for epilepsy, and the choice varies according to seizure type. Epilepsy patients experience chronic mitochondrial oxidative stress and increased levels of pro-inflammatory mediators, recognizable hallmarks of biological aging; however, few studies have explored aging markers in epilepsy. Herein, we addressed for the first time the impact of ASDs on molecular aging by measuring the telomere length (TL) and mtDNA copy number (mtDNA-CN). Methods: We used real-time quantitative PCR (QPCR) in epilepsy patients compared to matched healthy controls (CTs) and assessed the association with plasma levels of ASDs and other clinical variables. The sample comprised 64 epilepsy patients and 64 CTs. Patients were grouped based on monotherapy with lamotrigine (LTG) or valproic acid (VPA), and those treated with a combination therapy (LTG + VPA). Multivariable logistic regression was applied to analyze the obtained data. Results: mtDNA-CN was similar between patients and controls, and none of the comparisons were significant for this marker. TL was shorter in not seizure-free patients than in CTs (1.50 ± 0.35 vs. 1.68 ± 0.34; p < 0.05), regardless of the ASD therapy. These patients exhibited the highest proportion of adverse drug reactions. TL was longer in patients on VPA monotherapy, followed by patients on LTG monotherapy and patients on an LTG + VPA combined scheme (1.77 ± 0.24; 1.50 ± 0.32; 1.36 ± 0.37, respectively; p < 0.05), suggesting that ASD treatment differentially modulates TL. Conclusions: Our findings suggest that clinicians could consider TL measurements to decide the best ASD treatment option (VPA and/or LTG) to help predict ASD responses in epilepsy patients. Full article
(This article belongs to the Special Issue Epilepsy: Causes, Symptoms, Diagnosis, and Treatment)
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10 pages, 2039 KiB  
Article
Evaluation of Smell Function in Patients with Childhood Epilepsy with Centrotemporal Spikes at a Pediatric Neurology Clinic—A Case–Control Study
by Orhan Coşkun, Burçin Nazlı Karacabey, Afra Ünal, Samet Paksoy and Hale Nur Durak
J. Clin. Med. 2024, 13(21), 6474; https://doi.org/10.3390/jcm13216474 - 29 Oct 2024
Cited by 1 | Viewed by 987
Abstract
Objective: Childhood epilepsy with centrotemporal spikes (CECTS) is associated with cognitive, behavioral, and language difficulties. These epileptic discharges predominantly occur in the temporal lobe, which is known to be involved in olfactory functions. This study aims to assess olfactory dysfunction in patients with [...] Read more.
Objective: Childhood epilepsy with centrotemporal spikes (CECTS) is associated with cognitive, behavioral, and language difficulties. These epileptic discharges predominantly occur in the temporal lobe, which is known to be involved in olfactory functions. This study aims to assess olfactory dysfunction in patients with CECTS. Methods: This study included patients diagnosed with CECTS who were attending follow-ups at the Department of Child Neurology between January 2022 and July 2023. Olfactory function was evaluated using the Sniffin’ Sticks (Burghart GmbH, Wedel, Germany) 12-point screening test, which was administered to 44 patients and 35 controls. The smell test and the final control EEGs were performed simultaneously. Results: A total of 44 patients and 35 control subjects were enrolled in this study. The smell scores were significantly lower in the patient group compared to the control group (p = 0.029). The patient group had a very high prevalence of anosmia compared to the control group. The normosmia rate in the control group was significantly higher. No significant difference was observed in the smell scores based on EEG findings or antiepileptic drug type. Conclusions: Olfactory dysfunction was identified in patients with CECTS compared to healthy controls, yielding results consistent with findings for other types of epilepsy. Olfactory dysfunction was detected in a greater frequency among the patients diagnosed with CECTS than among the healthy control group, and similar results were obtained with other types of epilepsy. It was deduced that these patients may experience problems with smell sensitivity throughout their lives. The most important result of this study is that this condition should be taken into account in regard to patients’ well-being and lives. Full article
(This article belongs to the Special Issue Epilepsy: Causes, Symptoms, Diagnosis, and Treatment)
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11 pages, 727 KiB  
Article
Navigating Social Waters: Understanding Theory-of-Mind Challenges in Patients with Mesial Temporal Lobe Epilepsy
by Aleksandra Bala, Agnieszka Olejnik, Maria Mojżeszek, Andrzej Rysz and Przemysław Kunert
J. Clin. Med. 2024, 13(5), 1410; https://doi.org/10.3390/jcm13051410 - 29 Feb 2024
Viewed by 1379
Abstract
Background: Temporal lobe epilepsy is a common neurological disease that affects many areas of patients’ lives, including social competence. The aim of the study was to assess theory of mind in patients with temporal lobe epilepsy and to investigate the demographic and clinical [...] Read more.
Background: Temporal lobe epilepsy is a common neurological disease that affects many areas of patients’ lives, including social competence. The aim of the study was to assess theory of mind in patients with temporal lobe epilepsy and to investigate the demographic and clinical factors associated with this function. Methods: A total of 65 participants took part in the study, which included 44 patients with epilepsy and 21 demographically matched healthy individuals. The following neuropsychological tests were used to examine theory of mind: the Faux Pas Test, the Hinting Task, the Emotion Comprehension Test, and a cognitive function screen, the Montreal Cognitive Assessment. Results: Patients with epilepsy scored lower on all measures of the theory-of-mind tests. Moreover, in the clinical group, numerous moderate and strong correlations were found between the theory-of-mind tests and education, age at onset of epilepsy, lateralization of epileptic focus, cognitive status, and, to a lesser degree, number of anti-epileptic drugs, frequency of seizures, and age. In contrast, in the control group, significant correlations were found mostly between the theory-of-mind tests and sex, and, to a lesser degree, age. Education and cognitive functioning were not associated. Conclusions: Patients with epilepsy experience difficulties in theory of mind, which may have a negative impact on the quality of their social relationships. The level of theory-of-mind abilities correlates with particular clinical and demographic indicators. Recognizing these issues allows clinicians to implement tailored interventions, potentially improving patients’ quality of life. Full article
(This article belongs to the Special Issue Epilepsy: Causes, Symptoms, Diagnosis, and Treatment)
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11 pages, 280 KiB  
Article
Facial Emotion Recognition in Patients with Juvenile Myoclonic Epilepsy
by Hannah Dunkel, Adam Strzelczyk, Susanne Schubert-Bast and Matthias Kieslich
J. Clin. Med. 2023, 12(12), 4101; https://doi.org/10.3390/jcm12124101 - 17 Jun 2023
Cited by 4 | Viewed by 1609
Abstract
Previous studies have found facial emotion recognition (FER) impairments in individuals with epilepsy. While such deficits have been extensively explored in individuals with focal temporal lobe epilepsy, studies on individuals with generalized epilepsies are rare. However, studying FER specifically in individuals with juvenile [...] Read more.
Previous studies have found facial emotion recognition (FER) impairments in individuals with epilepsy. While such deficits have been extensively explored in individuals with focal temporal lobe epilepsy, studies on individuals with generalized epilepsies are rare. However, studying FER specifically in individuals with juvenile myoclonic epilepsy (JME) is particularly interesting since they frequently suffer from social and neuropsychological difficulties in addition to epilepsy-specific symptoms. Furthermore, recent brain imaging studies have shown subtle microstructural alterations in individuals with JME. FER is considered a fundamental social skill that relies on a distributed neural network, which could be disturbed by network dysfunction in individuals with JME. This cross-sectional study aimed to examine FER and social adjustment in individuals with JME. It included 27 patients with JME and 27 healthy controls. All subjects underwent an Ekman-60 Faces Task to examine FER and neuropsychological tests to assess social adjustment as well as executive functions, intelligence, depression, and personality traits. Individuals with JME performed worse in global FER and fear and surprise recognition than healthy controls. However, probably due to the small sample size, no significant difference was found between the two groups. A potential FER impairment needs to be confirmed in further studies with larger sample size. If so, patients with JME could benefit from addressing possible deficits in FER and social difficulties when treated. By developing therapeutic strategies to improve FER, patients could be specifically supported with the aim of improving social outcomes and quality of life. Full article
(This article belongs to the Special Issue Epilepsy: Causes, Symptoms, Diagnosis, and Treatment)
16 pages, 770 KiB  
Article
Evaluation of Event-Related Potentials in Assessing Cognitive Functions of Adult Patients with Epilepsy of Unknown Etiology
by Klaudia Jeżowska-Jurczyk, Piotr Jurczyk, Sławomir Budrewicz and Anna Pokryszko-Dragan
J. Clin. Med. 2023, 12(7), 2500; https://doi.org/10.3390/jcm12072500 - 25 Mar 2023
Cited by 3 | Viewed by 1625
Abstract
Background: Cognitive impairment (CI) is an important consequence of epilepsy. The aim of the study was to assess cognitive performance in patients with epilepsy, using neuropsychological tests (NT) and event-related potentials (ERPs), with regard to demographic and clinical data. Methods: The study comprised [...] Read more.
Background: Cognitive impairment (CI) is an important consequence of epilepsy. The aim of the study was to assess cognitive performance in patients with epilepsy, using neuropsychological tests (NT) and event-related potentials (ERPs), with regard to demographic and clinical data. Methods: The study comprised 50 patients with epilepsy of unknown etiology and 46 healthy controls. Based on the NT results, the patients were divided into subgroups with/without CI. Parameters of P300 potential were compared between the patients and controls. P300 parameters and NT results were referred to demographics and clinical characteristics of epilepsy. Results: Based on the NT, 66% of patients were assigned as cognitively impaired. Median P300 latency was significantly (p < 0.0002) prolonged in the study group. Subgroups of patients with and without CI significantly (p < 0.034) differed in education level and vocational activity, duration of epilepsy, age at its onset and frequency of polytherapy. P300 parameters showed significant (p < 0.03) relationships with duration of epilepsy, type and frequency of seizures and polytherapy. Conclusions: Cognitive impairment and ERPs abnormalities occur in a majority of patients with epilepsy of unknown etiology. Characteristics of epilepsy and socioeconomic status are related to cognitive performance. ERPs may complement neuropsychological methods in the assessment of cognition in patients with epilepsy. Full article
(This article belongs to the Special Issue Epilepsy: Causes, Symptoms, Diagnosis, and Treatment)
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Review

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20 pages, 3239 KiB  
Review
Glycaemic Imbalances in Seizures and Epilepsy of Paediatric Age: A Literature Review
by Emanuele Bartolini, Anna Rita Ferrari, Simona Fiori and Stefania Della Vecchia
J. Clin. Med. 2023, 12(7), 2580; https://doi.org/10.3390/jcm12072580 - 29 Mar 2023
Cited by 12 | Viewed by 6938
Abstract
Cerebral excitability and systemic metabolic balance are closely interconnected. Energy supply to neurons depends critically on glucose, whose fluctuations can promote immediate hyperexcitability resulting in acute symptomatic seizures. On the other hand, chronic disorders of sugar metabolism (e.g., diabetes mellitus) are often associated [...] Read more.
Cerebral excitability and systemic metabolic balance are closely interconnected. Energy supply to neurons depends critically on glucose, whose fluctuations can promote immediate hyperexcitability resulting in acute symptomatic seizures. On the other hand, chronic disorders of sugar metabolism (e.g., diabetes mellitus) are often associated with long-term epilepsy. In this paper, we aim to review the existing knowledge on the association between acute and chronic glycaemic imbalances (hyper- and hypoglycaemia) with seizures and epilepsy, especially in the developing brain, focusing on clinical and instrumental features in order to optimize the care of children and adolescents and prevent the development of chronic neurological conditions in young patients. Full article
(This article belongs to the Special Issue Epilepsy: Causes, Symptoms, Diagnosis, and Treatment)
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Other

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13 pages, 292 KiB  
Perspective
MR-Guided Focused Ultrasound for Refractory Epilepsy: Where Are We Now?
by Angelo Labate, Salvatore Bertino, Rosa Morabito, Chiara Smorto, Annalisa Militi, Simona Cammaroto, Carmelo Anfuso, Francesco Tomaiuolo, Paolo Tonin, Silvia Marino, Antonio Cerasa and Angelo Quartarone
J. Clin. Med. 2023, 12(22), 7070; https://doi.org/10.3390/jcm12227070 - 13 Nov 2023
Cited by 4 | Viewed by 2812
Abstract
Epilepsy is one of the most common neurological diseases in both adults and children. Despite improvements in medical care, 20 to 30% of patients are still resistant to the best medical treatment. The quality of life, neurologic morbidity, and even mortality of patients [...] Read more.
Epilepsy is one of the most common neurological diseases in both adults and children. Despite improvements in medical care, 20 to 30% of patients are still resistant to the best medical treatment. The quality of life, neurologic morbidity, and even mortality of patients are significantly impacted by medically intractable epilepsy. Nowadays, conservative therapeutic approaches consist of increasing medication dosage, changing to a different anti-seizure drug as monotherapy, and combining different antiseizure drugs using an add-on strategy. However, such measures may not be sufficient to efficiently control seizure recurrence. Resective surgery, ablative procedures and non-resective neuromodulatory (deep-brain stimulation, vagus nerve stimulation) treatments are the available treatments for these kinds of patients. However, invasive procedures may involve lengthy inpatient stays for the patients, risks of long-term neurological impairment, general anesthesia, and other possible surgery-related complications (i.e., hemorrhage or infection). In the last few years, MR-guided focused ultrasound (MRgFUS) has been proposed as an emerging treatment for neurological diseases because of technological advancements and the goal of minimally invasive neurosurgery. By outlining the current knowledge obtained from both preclinical and clinical studies and discussing the technical opportunities of this therapy for particular epileptic phenotypes, in this perspective review, we explore the various mechanisms and potential applications (thermoablation, blood-brain barrier opening for drug delivery, neuromodulation) of high- and low-intensity ultrasound, highlighting possible novel strategies to treat drug-resistant epileptic patients who are not eligible or do not accept currently established surgical approaches. Taken together, the available studies support a possible role for lesional treatment over the anterior thalamus with high-intensity ultrasound and neuromodulation of the hippocampus via low-intensity ultrasound in refractory epilepsy. However, more studies, likely conceiving epilepsy as a network disorder and bridging together different scales and modalities, are required to make ultrasound delivery strategies meaningful, effective, and safe. Full article
(This article belongs to the Special Issue Epilepsy: Causes, Symptoms, Diagnosis, and Treatment)
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