Epilepsia Open最新文献

{"title":"The causal relationship of DTI phenotypes and epilepsy: A two sample mendelian randomization study","authors":"Shang Feng,&nbsp;Shaobin Huang,&nbsp;Zhiguo Lin","doi":"10.1002/epi4.13067","DOIUrl":"10.1002/epi4.13067","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Clinical studies indicated a link between DTI imaging characteristics and epilepsy, but the causality of this connection had not been established. Therefore, we employed the Mendelian randomization analysis method to determine the causal relationship between DTI imaging characteristics and epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>We used Mendelian randomization analysis to identify the causal relationship between brain structure and the risk of epilepsy. GWAS data of DTI phenotypes, focal epilepsy, and genetic generalized epilepsy (GGE) were utilized in the analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our study found that DTI imaging phenotypes had a causal risk relationship with epilepsy. These phenotypes had a statistical impact on the risk of epilepsy seizures. There were differences in DTI phenotype causality between GGE and focal epilepsy, which were associated with the clinical phenotype differences of the two types of epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Our study demonstrated that the diagnosis of subtypes could be assisted by comparing the differences in DTI phenotypes of specific brain regions. This meant that by studying the changes in brain regions before the onset of epilepsy, we might be able to intervene in epilepsy at an earlier stage.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Our study used Mendelian randomization to explore the causal relationship between brain structure, as seen in DTI imaging, and epilepsy. We found that specific DTI phenotypes are linked to an increased risk of epilepsy seizures, with notable differences between genetic generalized epilepsy and focal epilepsy. This suggested that analyzing DTI phenotypes could help in diagnosing and potentially intervening in epilepsy earlier by finding brain changes before seizures begin.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2378-2383"},"PeriodicalIF":2.8,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142544584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain temperature, brain metabolites, and immune system phenotypes in temporal lobe epilepsy","authors":"Christina Mueller,&nbsp;Huixian Hong,&nbsp;Ayushe A. Sharma,&nbsp;Hongwei Qin,&nbsp;Etty N. Benveniste,&nbsp;Jerzy P. Szaflarski","doi":"10.1002/epi4.13082","DOIUrl":"10.1002/epi4.13082","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Epileptogenesis is linked to neuroinflammation. We hypothesized that local heat production caused by neuroinflammation can be visualized non-invasively in vivo via brain magnetic resonance spectroscopic imaging (MRSI) and MRSI-thermometry (MRSI-t) and that there is a relationship in patients with temporal lobe epilepsy (TLE) between MRSI-t and brain metabolites choline and myo-inositol and between neuroimaging and cellular and serum biomarkers of inflammation.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Thirty-six (36) participants, 18 with temporal lobe epilepsy (13 females) and 18 age-matched healthy controls (nine females), were enrolled prospectively and underwent MRSI/MRSI-t; TLE participants also provided blood samples. Temperature was measured using creatine as a reference metabolite. Analysis of Functional NeuroImages &lt;i&gt;3dttest&lt;/i&gt;++ tool was used to analyze voxel-level group differences in temperature, choline, and myo-inositol. Associations with immune cell subsets, cytokines, and chemokines related to inflammation were quantified using correlation coefficients with significant relationships as noted.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Patients with TLE showed elevated temperature, choline, and myo-inositol in the temporal lobes. Higher brain temperature was associated with higher levels of cytokines and chemokines, including GM-CSF, TNF, IL-1β, and IL − 12p70, and lower frequency of immune cells including CD3&lt;sup&gt;+&lt;/sup&gt; T-cells, CD4&lt;sup&gt;+&lt;/sup&gt; T-cells, CD8&lt;sup&gt;+&lt;/sup&gt; T-cells, and classical monocytes. Higher choline was associated with higher levels of the cytokines including LT-α, IL-13, and IL-4, and higher myo-inositol was associated with a higher frequency of CD4&lt;sup&gt;+&lt;/sup&gt; T-cell and CD19&lt;sup&gt;+&lt;/sup&gt; B-cell subsets and higher levels of cytokines and chemokines including LT-α, IL-13, and CCL3.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Significance&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;This study, for the first time, showed that in temporal lobes of patients with TLE temperature and metabolite changes correlate with cellular and serum biomarkers of inflammation. Our results provide support for further development of MRSI-t as a measure of neuroinflammation in epilepsy and potentially other neurological disorders and as an investigative and clinical tool.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Plain Language Summary&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Neuroinflammation is associated with excessive heat production which can be visualized with magnetic resonan","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2454-2466"},"PeriodicalIF":2.8,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142521358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"BRIVA-ONE study: 12-month outcomes of brivaracetam monotherapy in clinical practice","authors":"Vicente Villanueva,&nbsp;Esther González Villar,&nbsp;Alejandro Fernandez-Cabrera,&nbsp;Jorge Zurita,&nbsp;Francisco J. Lopez-Gonzalez,&nbsp;Xiana Rodríguez-Osorio,&nbsp;Beatriz Parejo-Carbonell,&nbsp;José C. Estevez,&nbsp;Blanca Mercedes-Alvarez,&nbsp;Joaquín Ojeda,&nbsp;Marta Rubio-Roy,&nbsp;Alexandre Garcia-Escrivá,&nbsp;Asier Gómez-Ibáñez,&nbsp;Javier Martinez-Poles,&nbsp;Paula Martinez-Agredano,&nbsp;Raquel Calle,&nbsp;Alba Sierra-Marcos,&nbsp;Ana M. Gonzalez,&nbsp;José D. Herrera,&nbsp;Juan Rodriguez-Uranga,&nbsp;Beatriz Cabezas,&nbsp;Emilio Martinez,&nbsp;Julia Renau,&nbsp;María de Toledo,&nbsp;Kevin G. Hampel,&nbsp;Cristina Alarcón,&nbsp;María Inés Barceló,&nbsp;Angela Monterde,&nbsp;Lidia B. Lara,&nbsp;Gemma Sansa,&nbsp;José M. Serratosa","doi":"10.1002/epi4.13078","DOIUrl":"10.1002/epi4.13078","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;This study investigated the effectiveness and tolerability of brivaracetam (BRV) monotherapy in a large series of patients with epilepsy.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Method&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;This was a multicenter, retrospective, observational, non-interventional study in 24 hospitals across Spain. Patients aged ≥18 years who started on BRV monotherapy, either as first-line or following conversion, at least 1 year before database closure were included. Patients were evaluated at baseline and at 3, 6 and 12 months after initiation of BRV monotherapy, in accordance with usual clinical practice at these centers. Data were collected retrospectively from patients' individual charts by participating physicians. The primary effectiveness and safety endpoints were the percentage of seizure-free patients 1 year after initiation of BRV monotherapy and the proportion of patients reporting adverse events (AEs) over the complete follow-up period. Retention rates and subpopulation analysis (levetiracetam switchers, elderly and different etiologies) were also investigated.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;A total of 276 patients were included (48 with BRV as first-line monotherapy and 228 who converted to BRV monotherapy). The overall retention rate in monotherapy at 12 months was 89.9% (87.5% for first-line monotherapy group; 90.4% for conversion-to-monotherapy group). Seizure-freedom rates at 12 months were 77.8% (75% for first-line monotherapy group; 78.4% for conversion-to-monotherapy group). AEs occurred in 39.5% of patients at 12 months (35.4% for first-line monotherapy group; 40.4% for conversion-to-monotherapy group). Most AEs were mild-to-moderate. The most frequent AEs were irritability (12.3%) and dizziness (10.1%). The most frequent AEs leading to BRV withdrawal were dizziness (1.8%) and memory problems (1.4%). Similar outcomes in terms of effectiveness and tolerability of BRV monotherapy were observed in patients switching from levetiracetam, those with different epilepsy etiologies, and elderly patients.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Significance&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;BRV was effective and well tolerated both as first-line monotherapy and following conversion to monotherapy in a real-world setting of patients with epilepsy.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Plain Language Summary&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The goal of the medical treatment of epilepsy is to ensure best possible patient quality of life, by maximizing seizure control and minimi","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2429-2442"},"PeriodicalIF":2.8,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633701/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142521359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Progressive postoperative atrophy of ipsilateral thalamus, putamen, and globus pallidus in patients with temporal lobe epilepsy: A volumetric analysis","authors":"Aleksa Pejovic,&nbsp;Zorica Jokovic,&nbsp;Matthias Koepp,&nbsp;Marko Dakovic,&nbsp;Vladimir Bascarevic,&nbsp;Marija Jovanovic,&nbsp;Nikola Vojvodic,&nbsp;Dragoslav Sokic,&nbsp;Aleksandar J. Ristic","doi":"10.1002/epi4.13088","DOIUrl":"10.1002/epi4.13088","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Cortical atrophy close to medial temporal structures has been described consistently in patients with temporal lobe epilepsy (TLE). Successful TLE surgery may have a neuroprotective effect preventing further atrophy of temporal and extratemporal cortex. However, the effects of epilepsy surgery on subcortical structures demand additional enlightenment. This work aimed to determine how epilepsy surgery affects volumes of subcortical structures in medically refractory temporal lobe epilepsy patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We compared MRI volumes of subcortical structures in 62 patients with TLE (36 left, 26 right) before and after anterior temporal lobectomy with 38 TLE patients (20 left, 18 right) who were considered to be good surgical candidates and had at least two brain MRIs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There were no volume differences in subcortical structures on preoperative and initial MRIs of non-operated TLE patients. At baseline, the ipsilateral thalamus and putamen in TLE patients were marginally smaller than contralateral structures. Operated patients showed a significant postoperative volume reduction in ipsilateral thalamus, putamen, and globus pallidus. In contrast, there were no significant volumetric reductions in non-operated patients longitudinally. There were no volumetric changes associated with different surgical outcomes or different postoperative cognitive outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Our study demonstrated postoperative volume loss of thalamus, putamen and globus pallidus ipsilaterally to the side of resection. Our findings suggest surgery-related changes, likely Wallerian degeneration within subcortical networks not related to seizure or cognitive outcome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>We studied 100 patients with epilepsy, comparing those who had surgery to those who did not. After surgery, the thalamus, putamen and globus pallidus on the same side as the surgery shrank significantly, but not in non-surgery patients. This suggests surgery-related changes in deeper brain structures, unrelated to seizure freedom or cognitive outcomes. This research sheds additional light on the response of the subcortical structure to epilepsy surgery, highlighting potential areas for further study.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2479-2486"},"PeriodicalIF":2.8,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142497579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"First-in-human microelectrode recordings from the vagus nerve during clinical vagus nerve stimulation","authors":"Mikaela Patros,&nbsp;David G. S. Farmer,&nbsp;Kegan Moneghetti,&nbsp;Matteo M. Ottaviani,&nbsp;Shobi Sivathamboo,&nbsp;Hugh D. Simpson,&nbsp;Terence J. O'Brien,&nbsp;Vaughan G. Macefield","doi":"10.1002/epi4.13083","DOIUrl":"10.1002/epi4.13083","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Vagus nerve stimulation (VNS) is an effective treatment for people with drug-resistant epilepsy. However, its mechanisms of action are poorly understood, including which nerve fibers are activated in humans during VNS in typical clinical settings and which are required for clinical efficacy. In particular, there have been no intraneural recordings of vagus nerve fiber activation in awake humans undergoing chronic VNS. In this study, for the first time, we report recordings from the vagus nerve in this setting.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The recordings were performed using a sterile tungsten microelectrode inserted percutaneously into the cervical vagus nerve under ultrasound guidance. The clinical VNS systems were used to deliver stimulation while activity in the vagus nerve was recorded.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In addition to activating myelinated axons at low currents, we provide evidence that VNS can also activate unmyelinated C fibers in the vagus nerve at currents &lt;1 mA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These results add to our understanding of how VNS exerts its beneficial effects in drug-resistant epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Statement</h3>\u0000 \u0000 <p>Here we describe for the first time, electrical recordings from the vagus nerve in awake drug-resistant epilepsy patients with an implanted vagus nerve stimulation (VNS) device. We found that the VNS device was able to activate both myelinated and unmyelinated fibers within the vagus nerve, which contributes to our understanding of how VNS works in the context of drug-resistant epilepsy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2522-2527"},"PeriodicalIF":2.8,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633718/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142497567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors impacting time to genetic diagnosis for children with epilepsy","authors":"Megan Rimmasch,&nbsp;Carey A. Wilson,&nbsp;Nephi A. Walton,&nbsp;Kelly Huynh,&nbsp;Joshua L. Bonkowsky,&nbsp;Rachel Palmquist","doi":"10.1002/epi4.13053","DOIUrl":"10.1002/epi4.13053","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Molecular diagnosis for pediatric epilepsy patients can impact treatment and health supervision recommendations. However, there is little known about factors affecting the time to receive a diagnosis. Our objective was to characterize factors affecting the time from first seizure to molecular diagnosis in children with epilepsy. A retrospective, population-based review was used to analyze data from pediatric patients with a genetic etiology for epilepsy over a 5 year period. A subgroup of patients with seizure onset after 2016 was evaluated for recent trends. We identified 119 patients in the main cohort and 62 in a more recent (contemporaneous) subgroup. Sex, race, and ethnicity were not significantly associated with time to molecular diagnosis. A greater number of hospitalizations was associated with a shorter time to diagnosis (<i>p</i> &lt; 0.001). Developmental delay was associated with a longer time to diagnosis (<i>p</i> = 0.002). We found no association for time to diagnosis with a diagnosis of autism, utilization of free genetic testing, or epilepsy type. In the recent subgroup analysis, commercial insurance was associated with decreased time to diagnosis (<i>p</i> = 0.02). Developmental delay, public insurance, or patients in the outpatient setting had longer times to molecular diagnosis. These findings suggest that there may be opportunities to implement interventions aimed at accelerating the provision of genetic testing in pediatric epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Genetic diagnosis for pediatric epilepsy patients can impact treatment and care. This study looked at factors that affect how long it takes a pediatric epilepsy patient to receive a genetic diagnosis. We found that sex, race and ethnicity, epilepsy type, and whether the patient had autism did not affect how long it took the patient to receive a diagnosis. However, we found that patients with developmental delay, fewer hospitalizations, and public insurance took a longer time to receive a diagnosis. Our findings suggest potential strategies for reducing the time to receive a genetic diagnosis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2495-2504"},"PeriodicalIF":2.8,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142521360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of the socioeconomic crisis in Lebanon on people with epilepsy","authors":"Joseph N. Samaha,&nbsp;Jim B. Dagher,&nbsp;Karine J. Abou Khaled","doi":"10.1002/epi4.13084","DOIUrl":"10.1002/epi4.13084","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The economic crisis in Lebanon, which began in 2019, has affected the healthcare system and patients' incomes. The aim of this study was to analyze the obstacles faced by people with epilepsy (PWE) during this crisis and to assess its impact on their quality of life.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The method used was a cross-sectional study conducted among PWE aged 18–65 years, who were asked to complete a comprehensive questionnaire covering sociodemographic aspects, clinical aspects, the impact of the economic crisis, and the QOLIE-31 (version 1.0), validated in English and Arabic, which assesses the quality of life of PWE.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;71 patients were included in the study with an average age of 35.2 years [23.5; 62.5] (53.5% were males). Their average QOLIE-31 score was 50.3 (+/− 17.9). A significant proportion (71%) of patients reported difficulties during the crisis, with 25% reporting having had seizure-related injuries in the years 2022–2023 and 36.6% reporting an increase in seizure frequency compared to that prior to 2020.&lt;/p&gt;\u0000 \u0000 &lt;p&gt;Moreover, many patients had to change (33.8%) or discontinue (18.3%) antiseizure medications, due to drug shortages, rising costs, and high gas prices. To mitigate these challenges, patients sought solutions such as obtaining medications from abroad (34%) or through donations (8%) or purchasing from the black market (8%).&lt;/p&gt;\u0000 \u0000 &lt;p&gt;Low quality of life was associated with unemployment, low education level, the presence of focal seizures with impaired awareness or generalized seizures, polytherapy, seizure-related injuries, and medication changes during the economic crisis.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Significance&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;These results highlight the considerable challenges faced by PWE in Lebanon during the economic crisis, emphasizing the negative effect of the crisis on their quality of life and seizure control.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Plain Language Summary&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;This study analyzed the obstacles faced by 71 people with epilepsy during Lebanon's economic crisis and showed that many patients had to change (33.8%) or discontinue (18.3%) antiseizure medications, due to drug shortages, rising costs, and high gas prices. To mitigate these challenges, patients sought solutions such as obtaining medications from abroad (34%) or through donations (8%) or purchasing ","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2467-2478"},"PeriodicalIF":2.8,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633679/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142497568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series","authors":"Benjamin Edmonds,&nbsp;Jacqueline P. Ngo,&nbsp;Aran Groves,&nbsp;Beck Reyes,&nbsp;Rolanda A. Gott,&nbsp;Dennis J. Chia,&nbsp;Hilda Mirbaha,&nbsp;Shino Magaki,&nbsp;Negar Khanlou,&nbsp;Stacy L. Pineles,&nbsp;Noriko Salamon,&nbsp;Rachel M. Thompson,&nbsp;Maya Newman,&nbsp;Rajsekar R. Rajaraman,&nbsp;Shaun A. Hussain,&nbsp;Aria Fallah,&nbsp;Bianca Russell,&nbsp;Hiroki Nariai","doi":"10.1002/epi4.13079","DOIUrl":"10.1002/epi4.13079","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Recent genetic studies have revealed that hemimegalencephaly (HME) is a multi-system disorder associated with germline or mosaic variants within the <i>PI3K-mTOR-GATOR1</i> signaling pathways. Patients with HME typically develop drug-resistant epilepsy necessitating extensive evaluation, hemispherectomy, and long-term management. We describe the role of a multidisciplinary team (MDT) for the diagnosis and management of recent patients with HME at UCLA who underwent hemispherectomy. Genetic evaluation identified nine patients with the following variants: <i>NPRL3</i> x2 germline, <i>PIK3CA</i> mosaicism x4, <i>MTOR</i> mosaicism x1, <i>AKT3</i> mosaicism x1, unknown x1. Each patient's MDT comprised 4–9 specialties. One child with a <i>MTOR</i> variant had persistent epilepsy after hemispherectomy, but addition of everolimus resulted in an 80% decrease in seizure frequency. Another child with hemihypertrophy and <i>PIK3CA</i> mosaic variant was offered targeted <i>PIK3CA</i> inhibitor treatment, alpelisib, for overgrowth. A third child with germline <i>NPRL3</i> variant inherited from their unaffected mother resulted in a sibling being diagnosed with the variant who later developed seizures secondary to focal cortical dysplasia. The implementation of a MDT offers essential guidance for families affected by HME, encompassing prognostication, surveillance, and therapeutic strategies. Identifying the etiology of HME can facilitate the development of targeted treatments and enable timely genetic counseling.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Hemimegalencephaly (HME) is a complex brain disorder caused by genetic changes. It often leads to severe epilepsy that doesn't respond to standard treatments and frequently requires surgery. In this case series, nine patients with HME were identified and found to have genetic mutations in key growth-regulating genes. A multidisciplinary team model was developed to facilitate patients' care. For example, one patient's seizures improved with surgery, another with a new targeted medication, and another received treatment for symptoms of overgrowth. This team approach provides comprehensive care for patients and can lead to efficient care coordination and implementation of novel therapies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2510-2517"},"PeriodicalIF":2.8,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633684/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142497578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bilateral pulvinar responsive neurostimulation for bilateral multifocal posteriorly dominant drug resistant epilepsy","authors":"Richard Wang,&nbsp;Ariel Sacknovitz,&nbsp;Sima Vazquez,&nbsp;Jose Dominguez,&nbsp;Patty McGoldrick,&nbsp;Steven Wolf,&nbsp;Vishad Sukul,&nbsp;Carrie Muh,&nbsp;Sanjay E. Patra,&nbsp;David E. Burdette","doi":"10.1002/epi4.13068","DOIUrl":"10.1002/epi4.13068","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;To describe four cases of Responsive Neurostimulation (RNS) in the bilateral pulvinar nuclei (PUL) in individuals with drug resistant epilepsy (DRE). This will show that due to widespread PUL connectivity, bilateral PUL RNS may be an option for some individuals with bilateral multifocal epilepsy.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;This study comprises two centers' experience with bilateral PUL RNS for DRE. Patients treated with bilateral PUL RNS at Westchester Medical Center (Valhalla, NY) and Corewell Health (Grand Rapids, MI) between the years 2019 and 2022 were analyzed and described. Presented here are methods for target selection, device programming, and clinical outcomes.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Two patients with Lennox–Gastaut phenotype (aged 13 and 21 years) with posteriorly dominant discharges were implanted with bilateral PUL electrodes. Additionally, two patients (aged 20 and 31 years) with independent left and right occipital bilateral multifocal seizure onsets were implanted with bilateral RNS devices targeting the ipsilateral PUL and ipsilateral occipital cortex. Subclinical and clinical seizures were captured by RNS electrocorticography (ECoG) in all patients. RNS implantation and treatment was well-tolerated without adverse effects in all patients. Relative to baseline, two patients had 25% and 50% reduction in disabling seizures, and two patients had 71% and 100% reduction in disabling seizures. Stimulation paradigms utilized high frequency stimulation in both Lennox–Gastaut phenotype patients. Low frequency (individualized to the terminal ictal frequencies) stimulation was effective in the two bioccipital patients.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Significance&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;RNS with electrode placement targeting bilateral PUL is safe, and no adverse effects have been attributable to the pulvinar electrode placement. PUL responsive neurostimulation is potentially effective for patients with bilateral multifocal, posteriorly dominant DRE. Both high and low frequency responsive stimulation are treatment options. Longer follow-up will shed light on the ultimate reduction of seizure burden.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Plain Language Summary&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;We describe four cases where stimulation devices were placed in the Pulvinar area of the thalamus (central sensory area in the brain). This is very unique and different location than where these devices are typically placed. Th","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2263-2273"},"PeriodicalIF":2.8,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142461226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The bidirectional role of music effect in epilepsy: Friend or foe?","authors":"Shajing Gao,&nbsp;Yiwei Gong,&nbsp;Cenglin Xu,&nbsp;Zhong Chen","doi":"10.1002/epi4.13064","DOIUrl":"10.1002/epi4.13064","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Epilepsy is a prevalent neurological disease that impacts around 70 million individuals globally. Anti-seizure medications (ASMs) are the first choice for clinicians to control unprovoked epileptic seizures. Although more than 30 ASMs are available in the market, patients with epilepsy (PWEs) still show poor responses to adequate drug treatment. Meanwhile, long-term medications not only bring heavy financial burdens but also lead to undesirable side effects. Music, a ubiquitous art form throughout human history, has been confirmed as therapeutically effective in various neurological conditions, including epilepsy. This alternative therapy offers convenience and a relatively safe approach to alleviating epileptic symptoms. Paradoxically, besides anti-convulsant effect, some particular music would cause seizures inversely, indicating the pro-convulsant effect of it. Considering that investigating the impact of music on epilepsy emerges as a compelling subject. In this review, we tried to present the following sections of content on this topic. Initially, we overviewed the impact of music on the brain and the significant progress of music therapy in central neurological disorders. Afterward, we classified the anti-convulsant and pro-convulsant effects of music in epilepsy, relying on both clinical and laboratory evidences. Finally, possible mechanisms and neural basis of the music effect were concluded, and the translational potentials and some future outlooks about the music effect in epilepsy were proposed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Epilepsy is an extremely severe neurological disorder. Although anti-seizure medications are preferred choice to control seizures, the efficacy is not satisfied due to the tolerance. Anecdotal music effect had been deemed functional diversity but not clarified on epilepsy, pro-convulsive, or anti-convulsive. Here, we reviewed this interesting but puzzling topic, as well as illustrating the potential mechanisms and its translational potential.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2112-2127"},"PeriodicalIF":2.8,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633764/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142461229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}