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Clinical Diagnosis and Treatment of Epilepsy
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Clinical Diagnosis and Treatment of Epilepsy

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

Deadline for manuscript submissions: 25 April 2025 | Viewed by 9040

Special Issue Editors

Dr. Angela La Neve

E-Mail Website
Guest Editor
Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy
Interests: epilepsy; antiseizure medication; SUDEP; epilepsy in pregnancy; clinical trials; epilepsy and gender; transitin in epilepsy
Prof. Dr. Simona Lattanzi

E-Mail Website
Guest Editor
Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy
Interests: epilepsy; status epilepticus; antiseizure medications; cerebrovascular diseases; stroke; clinical trials; systematic re-view; meta-analyses; network meta-analyses

Special Issue Information

Dear Colleagues,

Epilepsy is one of the most common chronic neurological diseases and it can lead to serious consequences in the lives of affected people, accounting for a significant proportion of disability-adjusted life years.

Starting from these considerations, the diagnosis of epilepsy becomes a delicate and complex process, which should be performed in a timely manner to guarantee the best model of care. Misdiagnosing epilepsy could lead to a treatment gap with devastating repercussions on the independence, mental health, emotional flexibility, and quality of life of both people with epilepsy and their families and caregivers. Specific childhood epilepsy syndromes could benefit from innovative therapies with the potential to favorably impact the disease progression, underlining the importance of a timely and proper diagnosis. Receiving a correct diagnosis of epilepsy as soon as possible, however, remains an unmet need in many cases.

About 70% of people with epilepsy achieve seizure control with pharmacological anti-seizure treatment. Nowadays, the broad spectrum of anti-seizure medications allows a more “personalized” treatment approach with the aim of identifying the most efficacious and best-tolerated drug in any individual case. In patients with focal epileptogenic zones located outside eloquent cortical areas of the brain and people with selected developmental and epileptic encephalopathies, epilepsy surgery and precision medicine represent the treatments of choice.

To overcome the existing gaps in the diagnosis and treatment of epilepsy, it is of paramount importance to increase the general knowledge and understanding of epilepsy throughout education programs and awareness campaigns. Empowering the utilization of easily available instrumental tools and identifying red flags of specific aetiologies are some of the main goals to pursue. The enforcement of molecular diagnostics may further guarantee a tailored treatment in selected patients with a precision medicine approach.

The present Special Issue aims to collect experimental findings, innovative single reports and case series, clinical studies, critical reviews, and outside-the-box viewpoints that focus on the diagnosis, management, treatment and prognosis of epilepsy.

Dr. Angela La Neve
Prof. Dr. Simona Lattanzi
Guest Editors

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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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

  • epilepsy
  • misdiagnosis in epilepsy
  • awareness in epilepsy
  • treatment in epilepsy
  • unmet needs in epilepsy
  • antiseizure medications
  • epilepsy surgery
  • neurostimulation

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Published Papers (5 papers)

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20 pages, 31986 KiB  
Article
Augmented Reality in Extratemporal Lobe Epilepsy Surgery
by Alexander Grote, Franziska Neumann, Katja Menzler, Barbara Carl, Christopher Nimsky and Miriam H. A. Bopp
J. Clin. Med. 2024, 13(19), 5692; https://doi.org/10.3390/jcm13195692 - 25 Sep 2024
Viewed by 3340
Abstract
Background: Epilepsy surgery for extratemporal lobe epilepsy (ETLE) is challenging, particularly when MRI findings are non-lesional and seizure patterns are complex. Invasive diagnostic techniques are crucial for accurately identifying the epileptogenic zone and its relationship with surrounding functional tissue. Microscope-based augmented reality [...] Read more.
Background: Epilepsy surgery for extratemporal lobe epilepsy (ETLE) is challenging, particularly when MRI findings are non-lesional and seizure patterns are complex. Invasive diagnostic techniques are crucial for accurately identifying the epileptogenic zone and its relationship with surrounding functional tissue. Microscope-based augmented reality (AR) support, combined with navigation, may enhance intraoperative orientation, particularly in cases involving subtle or indistinct lesions, thereby improving patient outcomes and safety (e.g., seizure freedom and preservation of neuronal integrity). Therefore, this study was conducted to prove the clinical advantages of microscope-based AR support in ETLE surgery. Methods: We retrospectively analyzed data from ten patients with pharmacoresistant ETLE who underwent invasive diagnostics with depth and/or subdural grid electrodes, followed by resective surgery. AR support was provided via the head-up displays of the operative microscope, with navigation based on automatic intraoperative computed tomography (iCT)-based registration. The surgical plan included the suspected epileptogenic lesion, electrode positions, and relevant surrounding functional structures, all of which were visualized intraoperatively. Results: Six patients reported complete seizure freedom following surgery (ILAE 1), one patient was seizure-free at the 2-year follow-up, and one patient experienced only auras (ILAE 2). Two patients developed transient neurological deficits that resolved shortly after surgery. Conclusions: Microscope-based AR support enhanced intraoperative orientation in all cases, contributing to improved patient outcomes and safety. It was highly valued by experienced surgeons and as a training tool for less experienced practitioners. Full article
(This article belongs to the Special Issue Clinical Diagnosis and Treatment of Epilepsy)
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13 pages, 1182 KiB  
Article
Cenobamate Plasma Levels in Patients with Epilepsy: Correlation with Efficacy and Tolerability?
by Bernhard J. Steinhoff, Dimitra Georgiou, Daniel Dietmann and Tassanai Intravooth
J. Clin. Med. 2024, 13(10), 2757; https://doi.org/10.3390/jcm13102757 - 8 May 2024
Cited by 1 | Viewed by 1253
Abstract
Objective: Cenobamate is approved by the European Medicine Agency for the treatment of adult patients with epilepsy (PWEs) with ongoing focal-onset seizures despite appropriate treatment with at least two established antiseizure medications. Pivotal trials and post-marketing real-world observational studies suggest high efficacy with [...] Read more.
Objective: Cenobamate is approved by the European Medicine Agency for the treatment of adult patients with epilepsy (PWEs) with ongoing focal-onset seizures despite appropriate treatment with at least two established antiseizure medications. Pivotal trials and post-marketing real-world observational studies suggest high efficacy with unusually high seizure-free rates. The authors sought to investigate the plasma levels of cenobamate under steady-state conditions in seizure-free versus non-responding PWEs, and in PWEs who experienced adverse events versus those who did not. Methods: Blood samples were collected from adult PWEs who were treated with adjunct cenobamate under steady-state conditions. Daily doses, concomitant medications, efficacy, and tolerability were assessed. The plasma cenobamate levels of seizure-free versus non-responding PWEs and between PWEs with and those without clinical adverse events were compared. Results: Samples from 101 PWEs were included. Thirty-six PWEs were seizure-free and 65 were non-responders. In 31 PWEs, adverse events were apparent, whereas in the remaining 70, no tolerability issues were reported. A linear correlation was found between the daily doses (range: 100 mg–400 mg) and the plasma levels (3.8 mg/L–54.6 mg/L). Neither the daily doses nor the plasma levels differed significantly between the investigated subgroups. The main reason for this result was that the individual therapeutic ranges varied widely: seizure freedom and adverse effects were observed alongside low doses and plasma levels in some PWEs. Conversely, there were examples of PWEs who did not respond or who reported no tolerability issues at high doses or plasma levels. Conclusions: To evaluate the individual therapeutic range and to better understand the influence of other drugs in cases where concomitant medications are used, the therapeutic drug monitoring of cenobamate may be useful. A general therapeutic range cannot be defined. Full article
(This article belongs to the Special Issue Clinical Diagnosis and Treatment of Epilepsy)
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7 pages, 193 KiB  
Brief Report
Evaluating the Inheritance Risk: Epilepsy Prevalence among Offspring of Adults with Epilepsy in a Tertiary Referral Epilepsy Center
by Tassanai Intravooth, Hazal Baran, Anne-Sophie Wendling, Amjad Halaby and Bernhard J. Steinhoff
J. Clin. Med. 2024, 13(10), 2932; https://doi.org/10.3390/jcm13102932 - 16 May 2024
Viewed by 847
Abstract
While significant strides have been made in comprehending the pathophysiology and treatment of epilepsy, further investigation is warranted to elucidate the factors impacting its development and transmission, particularly within familial contexts. This study sought to explore the prevalence and risk factors associated with [...] Read more.
While significant strides have been made in comprehending the pathophysiology and treatment of epilepsy, further investigation is warranted to elucidate the factors impacting its development and transmission, particularly within familial contexts. This study sought to explore the prevalence and risk factors associated with epilepsy in the offspring of patients with epilepsy who were treated at a tertiary epilepsy center. Adult patients with confirmed epilepsy (PWE) receiving outpatient care were consecutively enrolled, starting from January 2021 to January 2023. Data were recorded for various variables, including age, gender, epilepsy pathophysiology, cognitive impairment, and family history of epilepsy. Descriptive statistics, various statistical tests, and multivariate logistic regression analyses were employed to analyze the data. A total of 1456 PWE were included. Among them, 463 patients (31.8%) had children. Twenty-five patients had offspring diagnosed with epilepsy, representing a prevalence of 5.4%. Analysis of the offspring with epilepsy revealed older ages, a higher proportion of parents with idiopathic epilepsy, and a greater prevalence of a positive family history of epilepsy. Multivariate logistic regression analysis demonstrated a significant association between a family history of epilepsy and increased epilepsy risk in offspring. Genetic syndrome-immanent predisposition, advanced age, and a family history of epilepsy were identified as significant risk factors for epilepsy in offspring by means of this mono-center study. Full article
(This article belongs to the Special Issue Clinical Diagnosis and Treatment of Epilepsy)
17 pages, 601 KiB  
Systematic Review
The Cognitive and Behavioural Effects of Perampanel in Children with Neurodevelopmental Disorders: A Systematic Review
by Giovanna Scorrano, Simona Lattanzi, Vincenzo Salpietro, Cosimo Giannini, Francesco Chiarelli and Sara Matricardi
J. Clin. Med. 2024, 13(2), 372; https://doi.org/10.3390/jcm13020372 - 10 Jan 2024
Cited by 1 | Viewed by 1520
Abstract
In children and adolescents with epilepsy, neurodevelopmental comorbidities can impair the quality of life more than seizures. The aim of this review was to evaluate the cognitive and behavioural effects of perampanel (PER) in the paediatric population. We performed a systematic search of [...] Read more.
In children and adolescents with epilepsy, neurodevelopmental comorbidities can impair the quality of life more than seizures. The aim of this review was to evaluate the cognitive and behavioural effects of perampanel (PER) in the paediatric population. We performed a systematic search of the literature, selecting studies published in English including children and adolescents with epilepsy treated with PER. Cognitive and behavioural outcomes were assessed through validated neuropsychological standardised scales. Eighteen studies involving 3563 paediatric patients were included. Perampanel did not impair general cognitive functions and visuospatial skills, whereas a slight improvement in verbal memory and a decline in attentional power were detected. In adolescents with refractory epilepsies, high doses and/or rapid titration of PER and an underlying psychiatric disorder were risk factors for developing or worsening psychiatric outcomes such as anger, aggressiveness, and irritability. Data on children and adolescents treated with new antiseizure medications are scant, and neuropsychiatric effects are tricky to be detected during developmental age. According to the currently available evidence, PER showed an overall favourable risk–benefit profile. Pharmacodynamics, co-administration of other antiseizure medications, and family and personal history of neuropsychiatric disorders should be considered before PER treatment. Full article
(This article belongs to the Special Issue Clinical Diagnosis and Treatment of Epilepsy)
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9 pages, 1168 KiB  
Brief Report
Individualized Prediction of Drug Resistance in People with Post-Stroke Epilepsy: A Retrospective Study
by Simona Lattanzi, Stefano Meletti, Eugen Trinka, Francesco Brigo, Gianni Turcato, Claudia Rinaldi, Claudia Cagnetti, Nicoletta Foschi, Serena Broggi, Davide Norata and Mauro Silvestrini
J. Clin. Med. 2023, 12(11), 3610; https://doi.org/10.3390/jcm12113610 - 23 May 2023
Cited by 4 | Viewed by 1423
Abstract
Background: The study aimed to develop a model and build a nomogram to predict the probability of drug resistance in people with post-stroke epilepsy (PSE). Methods: Subjects with epilepsy secondary to ischemic stroke or spontaneous intracerebral hemorrhage were included. The study outcome was [...] Read more.
Background: The study aimed to develop a model and build a nomogram to predict the probability of drug resistance in people with post-stroke epilepsy (PSE). Methods: Subjects with epilepsy secondary to ischemic stroke or spontaneous intracerebral hemorrhage were included. The study outcome was the occurrence of drug-resistant epilepsy defined according to International League Against Epilepsy criteria. Results: One hundred and sixty-four subjects with PSE were included and 32 (19.5%) were found to be drug-resistant. Five variables were identified as independent predictors of drug resistance and were included in the nomogram: age at stroke onset (odds ratio (OR): 0.941, 95% confidence interval (CI) 0.907–0.977), intracerebral hemorrhage (OR: 6.292, 95% CI 1.957–20.233), severe stroke (OR: 4.727, 95% CI 1.573–14.203), latency of PSE (>12 months, reference; 7–12 months, OR: 4.509, 95% CI 1.335–15.228; 0–6 months, OR: 99.099, 95% CI 14.873–660.272), and status epilepticus at epilepsy onset (OR: 14.127, 95% CI 2.540–78.564). The area under the receiver operating characteristic curve of the nomogram was 0.893 (95% CI: 0.832–0.956). Conclusions: Great variability exists in the risk of drug resistance in people with PSE. A nomogram based on a set of readily available clinical variables may represent a practical tool for an individualized prediction of drug-resistant PSE. Full article
(This article belongs to the Special Issue Clinical Diagnosis and Treatment of Epilepsy)
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