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: 20 July 2024 | Viewed by 6221

Special Issue 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

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Keywords

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

Published Papers (4 papers)

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Research

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11 pages, 280 KiB  
Article
Facial Emotion Recognition in Patients with Juvenile Myoclonic Epilepsy
J. Clin. Med. 2023, 12(12), 4101; https://doi.org/10.3390/jcm12124101 - 17 Jun 2023
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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
J. Clin. Med. 2023, 12(7), 2500; https://doi.org/10.3390/jcm12072500 - 25 Mar 2023
Cited by 1 | Viewed by 835
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
J. Clin. Med. 2023, 12(7), 2580; https://doi.org/10.3390/jcm12072580 - 29 Mar 2023
Cited by 2 | Viewed by 2913
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?
J. Clin. Med. 2023, 12(22), 7070; https://doi.org/10.3390/jcm12227070 - 13 Nov 2023
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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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