Epilepsia Open最新文献

{"title":"The appearance of scalp high-frequency oscillations is associated with poor seizure control in pediatric epilepsy patients","authors":"Keisuke Maeda, Nami Hosoda, Himari Tsuboi, Honoka Naito, Chiaki Kudo, Junichi Fukumoto, Shiho Fujita, Naohiro Ichino, Keisuke Osakabe, Keiko Sugimoto, Shunta Yamaguchi, Naoko Ishihara","doi":"10.1002/epi4.13032","DOIUrl":"10.1002/epi4.13032","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Epilepsy treatment with anti-seizure medications (ASMs) is based on careful assessment of the balance between the likelihood of further seizures and the risk of side effects of treatment. However, there is currently no established biomarker to ascertain seizure control status with ASMs. High-frequency oscillations (HFOs), transient bursts of EEG activity with frequencies beyond 80 Hz, are a new and promising noninvasive epilepsy biomarker. We compared the risk of scalp HFO appearance between pediatric patients with good and poor seizure control by treatment with ASMs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 72 epilepsy patients (aged 0–18 years, 39 males) with good and poor seizure control with ASMs participated in this study. We applied a validated automated detector to determine HFO and spike. We calculated the odds ratios (ORs) for scalp HFO and spike appearance according to seizure control status by multiple logistic regression analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Scalp HFO was seen more commonly and with a significantly higher detection rate in patients with poor seizure control as compared with patients with good seizure control for both ripple and fast ripple. These significant associations were found for both focal and generalized epilepsy. The ORs for scalp HFO appearance adjusted for confounding factors were significantly higher in patients with poor seizure control compared to those with good seizure control (ripple: OR [95% CI] = 11.91 [2.21–64.30], <i>p</i> = 0.004; fast ripple: 4.98 [1.03–24.09], <i>p</i> = 0.046). There were no significant associations between spike appearance and seizure control status.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>We found an increased risk of scalp HFO appearance in patients with poor seizure control. The results of this study support that scalp HFO is associated with patients having frequent seizures after treatment in both ripple and fast ripple.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>This study analyzed scalp high-frequency oscillations and spikes in pediatric patients with various types of epilepsy who were being treated using ASMs. The results showed that an increased risk of scalp HFO appearance was observed in patients with poor seizure control compared to those with good seizure control. These findings were observed in both the ripple (80–250 Hz) and fast ripple (250–500 Hz) bands. The sca","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"107-119"},"PeriodicalIF":2.8,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13032","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767493","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":"Efficacy and safety of everolimus for patients with focal cortical dysplasia type 2","authors":"Se Hee Kim, Hoon-Chul Kang, Yun Ho Roh, Jongsung Hahn, Kyung Lok Min, Seok-Jin Lee, Donghwa Yang, Han Som Choi, Soyoung Park, Jeong Ho Lee, Sang-Guk Lee, Se Hoon Kim, Min Jung Chang, Heung Dong Kim","doi":"10.1002/epi4.13104","DOIUrl":"10.1002/epi4.13104","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aimed to evaluate the effectiveness and safety of everolimus in treating seizures associated with focal cortical dysplasia type 2 (FCD 2).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A prospective, crossover, placebo-controlled clinical trial (ClinicalTrials.gov: NCT03198949) enrolled patients aged 4–40 years with pathologically confirmed FCD 2 and a history of ≥3 seizures per month for two out of the 3 months prior to screening. The trial included a 4-week baseline phase, two 12-week core phases, and a 29-week extension phase. Patients received everolimus or placebo in a blinded manner during core phase I, with crossover to the alternate treatment in core phase II. Everolimus dosage started at 4.5 mg/m<sup>2</sup>/day, targeting a serum level of 5–15 ng/mL. The primary outcome was the proportion of patients achieving ≥50% seizure reduction from baseline in the last month of each core phase. Safety profiles were compared between groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Between May 11, 2017, and June 19, 2020, 21 patients completed the core phases. There was no significant difference in the primary outcome between everolimus and placebo groups (24% vs. 19%, p = 0.66). The patients showed varied responses. Three patients with a pathogenic variant in the <i>MTOR</i> gene or no genetic abnormalities achieved seizure freedom with everolimus in the last month of the core phase, while none of the patients with variants in other genes did. Adverse events, such as mucositis or skin ulceration, were more common with everolimus (19/21 vs. 7/21, <i>p</i> < 0.001). All adverse events resolved without study drug withdrawal.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Everolimus treatment for 12 weeks did not show overall superiority in reducing seizures compared to placebo. However, it showed promise, mostly in patients with a pathogenic variant in the <i>MTOR</i> gene, highlighting the need for further research into patient-specific factors influencing treatment response. The everolimus treatment was generally safe and manageable.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>This study tested everolimus for reducing seizures in patients with focal cortical dysplasia type 2 (FCD 2). While the drug was not more effective than a placebo for most, few patients showed better results, with some becoming seizure-free. Side effects were common but manageable. More research is nee","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"243-257"},"PeriodicalIF":2.8,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13104","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142738894","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":"Creativity and its link to epilepsy.","authors":"Itay Tokatly Latzer, Phillip L Pearl","doi":"10.1002/epi4.13108","DOIUrl":"https://doi.org/10.1002/epi4.13108","url":null,"abstract":"<p><p>Creative thinking represents one of our highest-order cognitive processes, involving multiple cortical structures and an intricate interplay between several cortical and subcortical networks. It results in novel ideas that translate to useful products or concepts. The evolutionary purpose of creativity is therefore apparent, as it advances our adaptation and survival. Elucidating the neurobiology and neuroanatomy of creative cognition is challenging because the construct of creativity is not clearly defined, and the many neuropsychological measures attempting to assess it are often biased, leading to imprecise findings. Using examples from the medical and music fields, creativity is demonstrably linked to the default mode network (DMN), which has the unique property of becoming activated at times of \"quiet wakefulness,\" facilitating \"defaulted\" internally focused cognitive operations. Creative thoughts result from a process involving the activation and deactivation of the DMN as part of a dynamic interplay shared with the central executive network and affective salience network. The question is posed whether seizures originating from DMN-related cortical areas should be considered as having overlap with eloquent cortex, potentially exempting them from removal in epilepsy surgery. PLAIN LANGUAGE SUMMARY: Creative thinking is a higher-order cognitive process involving multiple brain structures and networks. It results in insightful and original thoughts that translate to useful products or concepts, which allow us to adapt to our surroundings. This Narrative Review presents conceptual, investigational, and neurobiological aspects of creativity, including information about a unique brain network termed \"default mode network (DMN),\" which activates at times of \"quiet wakefulness,\" facilitating internally focused cognitive operations. The review ends with a discussion on whether regions of the DMN from which seizures originate should be regarded as \"eloquent\" and their removal should be deferred by epilepsy surgery.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ivermectin as a promising therapeutic option for onchocerciasis-associated epilepsy","authors":"Mohammad Amin Manavi,&nbsp;Razieh Mohammad Jafari,&nbsp;Hamed Shafaroodi,&nbsp;Mohammad Sharifzadeh,&nbsp;Ahmad Reza Dehpour","doi":"10.1002/epi4.13107","DOIUrl":"10.1002/epi4.13107","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;p&gt;Onchocerciasis, commonly known as river blindness, is a neglected tropical disease caused by the parasite &lt;i&gt;Onchocerca volvulus&lt;/i&gt;. It can lead to blindness and visual impairment. Studies have also demonstrated a link between onchocerciasis and epilepsy, with there being a correlation between onchocerciasis endemicity and epilepsy prevalence. Onchocerciasis-associated epilepsy (OAE) emerges predominantly in individuals aged 3–18, with a notable prevalence in regions where onchocerciasis transmission persists. These areas exhibit elevated rates of epilepsy, underscoring the significant impact of ongoing onchocerciasis on the incidence of epilepsy, particularly within the specified age range. Both epilepsy prevalence and incidence have evolved over the past three decades in a Tanzanian area endemic for onchocerciasis. Researchers have studied the effects of the antiparasitic drug ivermectin on OAE. About one third of Ugandan patients saw reduced seizure frequency or intensity after one 150 μg/kg dose. Clinical research in the Congo among infected epileptics on anti-seizure medications (ASMs) suggested ivermectin may decrease seizure frequency following oral administration of ivermectin tablets (3 mg). Beyond its antiparasitic properties, ivermectin has demonstrated anticonvulsant effects against clonic and tonic–clonic seizures, likely through modulation of GABA&lt;sub&gt;A&lt;/sub&gt; receptor and neuroinflammation. There is evidence of synergistic effects when combined with GABAergic ASMs like diazepam. As neuroinflammation plays a key role in OAE, ivermectin's anti-inflammatory properties by inhibiting cytokines like TNF-α and IL-1β are also relevant. While certain other antiparasitic drugs can interact with ASMs and have side effects like seizures, no such interactions or side effects have been reported for ivermectin. However, there is a need for more randomized controlled trials specifically evaluating ivermectin's impact on seizures in &lt;i&gt;O. volvulus&lt;/i&gt;-infected epileptics on ASMs. Given its efficacy against parasites, limited side effects, and potential anticonvulsant mechanisms, ivermectin could be a favorable first-line treatment option, but further research is warranted to confirm benefits for OAE.&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 article explores the potential benefits of ivermectin, a drug commonly used to treat parasitic infections, for reducing seizures in people with epilepsy linked to onchocerciasis, also known as river blindness. Research shows that ivermectin not only targets the parasitic cause of the disease but may also help reduce brain inflammation, which plays a key role in epilepsy. While early results are promising, more research is needed to confirm whether ivermectin can be a reliable treatment for epilepsy in","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"361-367"},"PeriodicalIF":2.8,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13107","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709619","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":"Multiple intracerebral hematomas during SEEG recording and intradural hemorrhage after spinal tap: A case report prompting more research on collagen IV gene mutation and oral nicotine consumption as risk factors","authors":"Markus Leitinger,&nbsp;Serena Broggi,&nbsp;Mathias Spendel,&nbsp;Gudrun Kalss,&nbsp;Ivan Petrović,&nbsp;Herbert Krainz,&nbsp;Fabio Rossini,&nbsp;Julia Höfler,&nbsp;Andreea Toma,&nbsp;Giorgi Kuchukhidze,&nbsp;Matthias Mauritz,&nbsp;Kai-Nicolas Poppert,&nbsp;Bernardo Crespo-Pimentel,&nbsp;Pilar Bosque-Varela,&nbsp;Anna Pleyers,&nbsp;Patricia Ganger,&nbsp;Dieter Kotzot,&nbsp;Davor Lessel,&nbsp;Christoph J. Griessenauer,&nbsp;Eugen Trinka","doi":"10.1002/epi4.13102","DOIUrl":"10.1002/epi4.13102","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Intracerebral hemorrhages (ICH) during implantation of stereo-EEG electrodes are rare. The impact of tobacco-free nicotine consumption on periprocedural bleeding is uncertain. We present a 20+ year-old man with drug-resistant epilepsy who underwent stereo-EEG with 17 depth electrodes. Within a few days after insertion, the patient developed multiple ICHs in the electrode trajectories and an intradural hemorrhage after a diagnostic spinal tap. We performed the investigation of the clotting system and whole-exome sequencing (WES). WES identified a heterozygous mutation c.4698G&gt;T, p.(Trp1566Cys) in <i>COL4A2</i> (NM_001846.4) encoding a collagen type-IV alpha-2 chain inherited from his seemingly healthy mother. As <i>COL4A2</i> mutations had been identified in four adult patients with ICH we postulated that the identified variant presents a potential risk factor. Notably, mutations encoding other collagens have been linked to cerebral hemorrhages (<i>COL4A1</i>) and increased propensity to trigger ICH upon smoking (<i>COL1A2</i>). Our patient consumed at least 24 oral nicotine pouches (containing 11 mg nicotine each) per day. We consider the patient's <i>COL4A2</i> mutation in combination with his substantial nicotine consumption as likely predisposition to multiple ICHs precipitated by stereo-EEG. Patients with nicotine consumption and any collagen mutation may have a substantially higher risk for hemorrhagic complications in SEEG and other neurosurgical procedures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>A young man with drug-resistant epilepsy experienced multiple intracerebral hemorrhages after implantation of SEEG electrodes for presurgical evaluation and concomitantly a intradural hemorrhage after a lumbar spinal tap. A collagen IV mutation of unclear significance and heavy use of oral nicotine pouches were the only potential risk factors identified. As collagen mutations were previously described risk factors and smoking in particular worsens the bleeding risk in collagen mutations, further research is warranted to prevent hemorrhages in neurosurgical procedures. Nicotine consumption in any form is a preventable risk factor.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"329-335"},"PeriodicalIF":2.8,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13102","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695289","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":"Exome sequencing in Nigerian children with early-onset epilepsy syndromes","authors":"Ibitayo Abigail Ademuwagun,&nbsp;Yagoub Adam,&nbsp;Solomon Oladapo Rotimi,&nbsp;Steffen Syrbe,&nbsp;Maximilian Radtke,&nbsp;Julia Hentschel,&nbsp;Johannes R. Lemke,&nbsp;Ezekiel Adebiyi","doi":"10.1002/epi4.13106","DOIUrl":"10.1002/epi4.13106","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;Nigeria, along with other Sub-Saharan African countries, bears the highest burden of epilepsy worldwide. This high prevalence is attributed to a combination of factors, including a significant incidence of infectious diseases, perinatal complications, and genetic etiologies. Genetic testing is rarely available and is not typically included in the routine diagnostic work-up for individuals with infantile and childhood epilepsy syndromes in these regions. Exome sequencing (ES) offers a diagnostic yield of 24%–62%, but these figures primarily reflect data from high-income countries (HICs) and may not be applicable to low- and middle-income countries (LMICs). In this study, we employed ES to investigate the genetic basis of early-onset epilepsy in 22 affected children from Nigeria.&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 study involved sampling of patients diagnosed with early-onset epilepsy syndromes at the Lagos State University Teaching Hospital (LASUTH) Neurology clinic. Venous blood samples were collected, and genomic DNA was isolated and purified. Molecular analysis included DNA fragmentation, ligation, target enrichment, library preparation, and whole-exome sequencing. Computational analysis involved variant calling, curation, and classification using specialized tools and databases.&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;Pathogenic variants were identified in 6 out of 22 individuals, equaling a diagnostic yield of 27.3% and comprising variants in &lt;i&gt;BPTF&lt;/i&gt;, &lt;i&gt;NAA15&lt;/i&gt;, &lt;i&gt;SCN1A&lt;/i&gt;, &lt;i&gt;TUBA1A&lt;/i&gt; and twice in &lt;i&gt;CACNA1A&lt;/i&gt;.&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;In this study, we present the first exome study on early-onset epilepsy syndromes from West Africa, facilitated by a Nigerian-German research collaboration. Our findings reveal a genetic diagnostic yield comparable to that of HICs. The integration of genomic medicine into epilepsy management in Nigeria holds promising prospects for improving patient care and reducing mortality rates.&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 represents the first published exome findings in Nigerian children with early-onset epilepsy, revealing a genetic diagnosis in 27% of cases. Pathogenic variants were identified in five genes amongst 6 of 22 patients, underscoring the potential of genetic testing to enhance epilepsy management in developing nations like Nigeria.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 ","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"222-232"},"PeriodicalIF":2.8,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13106","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681121","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":"Symptomatic vigabatrin-associated MRI toxicity is associated with simultaneous hormonal therapy among patients with infantile spasms","authors":"Rujuta Sathe,&nbsp;Gyaneshwar Shrestha,&nbsp;Aria Terango,&nbsp;David Tabibzadeh,&nbsp;Rajsekar R. Rajaraman,&nbsp;Hiroki Nariai,&nbsp;Shaun A. Hussain","doi":"10.1002/epi4.13099","DOIUrl":"10.1002/epi4.13099","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Vigabatrin-associated brain abnormalities on MRI (VABAM) are observed in approximately 20% of children who receive vigabatrin for treatment of infantile epileptic spasms syndrome. Although usually reversible and asymptomatic, VABAM is occasionally symptomatic. Whereas asymptomatic VABAM appears to be dose-dependent, symptomatic VABAM is possibly associated with co-administration of vigabatrin and hormonal therapy (i.e., corticosteroids or adrenocorticotropic hormone). With retrospective study of a cohort of vigabatrin-treated children, we evaluated candidate risk factors for VABAM. Among 108 children with detailed vigabatrin exposure data, we identified VABAM in 17 children (11 symptomatic). Symptomatic VABAM was strongly associated with simultaneous exposure to hormonal therapy (<i>p</i> = 0.001). Neither symptomatic nor asymptomatic VABAM were associated with peak vigabatrin dose. Although these data support the hypothesis that symptomatic VABAM risk is higher with coadministration of vigabatrin and hormonal therapy, this study does not establish a causal link. Further study is warranted to better understand the pathogenesis of VABAM and devise strategies to mitigate risk. Clinicians should carefully weigh the potential risk of symptomatic vigabatrin toxicity against the known benefit of vigabatrin and hormonal therapy coadministration.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Several case reports suggest that the combination of vigabatrin and hormonal therapy for treatment of infantile spasms may provoke an adverse reaction known as symptomatic vigabatrin MRI toxicity (sVABAM, which includes characteristic changes on MRI images and associated symptoms). In response to these reports, we studied a large single-center cohort of children with infantile spasms and determined that combination therapy is indeed statistically associated with sVABAM. However, we have not proven that combination therapy actually causes sVABAM. Further study is needed to clarify the nature of sVABAM and risk factors thereof.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"314-320"},"PeriodicalIF":2.8,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13099","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681215","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":"Neuropsychological morbidity in the First Seizure Clinic: Prominent mood symptoms and memory issues in epilepsy","authors":"Remy Pugh,&nbsp;David N. Vaughan,&nbsp;Graeme D. Jackson,&nbsp;Jennie Ponsford,&nbsp;Chris Tailby","doi":"10.1002/epi4.13103","DOIUrl":"10.1002/epi4.13103","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 examine the neuropsychological morbidity across the spectrum of patients presenting to a First Seizure Clinic, and test the hypothesis that cognitive and psychological compromise is especially prominent in those diagnosed with 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;A sample of 201 patients referred to the Austin Hospital First Seizure Clinic (FSC) underwent cognitive screening via telephone and psychological screening via online questionnaire, all prior to their diagnostic evaluation (and any attendant treatment recommendation) at the FSC. Rates of cognitive (i.e., scores &lt;10th percentile) and psychological impairment (using established clinical cut scores) were compared against 35 demographically matched controls. Cognitive differences were explored between the most frequently encountered patient subgroups (epilepsy, &lt;i&gt;n&lt;/i&gt; = 48; first unprovoked seizure, &lt;i&gt;n&lt;/i&gt; = 24; acute symptomatic seizure, &lt;i&gt;n&lt;/i&gt; = 24; syncope, &lt;i&gt;n&lt;/i&gt; = 35) via a multivariate analysis of variance, with diagnostic labels applied retrospectively after a period of follow-up.&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;People with epilepsy were most likely to show cognitive impairments, particularly in learning and memory, with performances worse than all other FSC groups (&lt;i&gt;F&lt;/i&gt; [3127] = 2.44, &lt;i&gt;p&lt;/i&gt; = 0.03). Clinically significant depressive symptoms were similarly prevalent in all patient groups, with one in three at risk for Major Depressive Disorder. Elevated anxiety symptoms were common across patient groups; however, not significantly different to controls.&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;Cognitive impairment in epilepsy and mood problems in all FSC groups are detectable via remote screening as early as the first seizure. Learning and memory difficulties are particularly prevalent in new-onset epilepsy and may lend diagnostic information when paired with clinical factors.&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 explored cognitive and psychological differences between various patient groups attending an Australian First Seizure Clinic. We found that learning and memory abilities were poorer in people with epilepsy than other patient groups including those with non-epileptic seizures, and seizure-mimics (fainting episodes). Therefore, along with standard epilepsy investigations, memory performances could help to predict which patients have epilepsy v","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"258-268"},"PeriodicalIF":2.8,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13103","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667027","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":"Cerebrospinal fluid metabolites as potential biomarkers for epilepsy: Insights from genome-wide association studies","authors":"Zhenxiang Zhao,&nbsp;Na Xing,&nbsp;Lin Hou","doi":"10.1002/epi4.13101","DOIUrl":"10.1002/epi4.13101","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>While metabolic imbalances have been observed in individuals with epilepsy, the direct involvement of specific metabolites in the development of the condition remains underexplored. A comprehensive analysis of the causality between cerebrospinal fluid metabolites (CSF) and epilepsy is pivotal in discovering innovative therapeutic interventions and prophylactic approaches.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Summary data from genome-wide association studies (GWAS) of CSF metabolites and epilepsy subtypes were obtained separately. A total of 338 CSF metabolites were investigated as exposures, and 11 epilepsy phenotypes were examined as the outcomes. A two sample Mendelian randomization (MR) approach was utilized to explore the causal influence of these metabolites on epilepsy. Causality was primarily estimated through inverse variance weighted (IVW) analysis, complemented by a range of sensitivity analyses to ensure result stability. Additionally, reverse MR analysis was performed to explore the possibility of bidirectional causality.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The IVW method, reinforced by sensitivity analyses, pinpointed 17 CSF metabolites with causal implications for six epilepsy phenotypes. After False Discovery Rate (FDR) multiple testing correction, two metabolites (Methylmalonate and Gamma-glutamyl-alpha-lysine) were found to have robust causal links to epilepsy (<i>p</i> &lt; 0.05 and FDR&lt;0.05). The other 15 metabolites exhibited suggestive evidence of a causal association (p &lt; 0.05 and FDR&gt;0.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>This study highlights CSF metabolites that could serve as valuable biomarkers and may be critical in developing targeted treatments and preventing epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>This study explores how certain chemicals in the brain fluid might influence the development of epilepsy, aiming to find new ways to treat or prevent it. Researchers looked at the relationship between 338 cerebrospinal fluid metabolites and 11 types of epilepsy using genetic data. They found that 17 of these chemicals could potentially cause six types of epilepsy. Two of these chemicals were strongly linked to epilepsy, suggesting they could be important for creating specific treatments or prevention strategies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"233-242"},"PeriodicalIF":2.8,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13101","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142645964","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":"A multicenter, cross-sectional analysis to assess the safety and usage pattern of brivaracetam in the management of partial-onset seizure with BAEs—BREEZE study: A post-hoc analysis","authors":"Arvind Sharma,&nbsp;Krishnaprasad Korukonda,&nbsp;Amit Haldar,&nbsp;Usha Kant Misra,&nbsp;R. V. Anand,&nbsp;Yakshdeep Dave,&nbsp;Girish Kulkarni","doi":"10.1002/epi4.13065","DOIUrl":"10.1002/epi4.13065","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;Brivaracetam (BRV), a third-generation anti-seizure medication (ASM) offers strong conformational receptor domain binding, faster blood brain barrier (BBB) permeability and better tolerability making it potential therapeutic option as an initial line or initial line add-on strategy for focal onset seizure (FoS). The following study was planned to further understand the role and relevance of BRV in the real world settings of India.&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 multicentric, cross-sectional, and non-interventional study conducted in patients with FoS across India. The study was approved by central independent ethics committee. Descriptive and analytical statistics employed using SPSS version 29.0.1.0.&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;Per protocol (PP) analysis included 8479 eligible patients from 1069 sites, gender; 5771 (68.06%) male and 2708 (31.94%) female with mean age 41.21 ± 12.74 years. Total 8019 (94.57%) patients had FoS and 460 (5.43%) patients had focal to bilateral tonic–clonic seizures (FBTCs). In FoS, 4105 (51.19%) patients switched from LEV to BRV whereas 3914 (48.81%) switched from other ASMs to BRV. BAEs accounted for 2059 (50.16%) patients in LEV to BRV switch versus 133 (3.39%) in other ASM to BRV switch. Post switch, LEV-associated BAEs reduced irrespective of being used as monotherapy 85.65% (&lt;i&gt;p&lt;/i&gt; &lt; 0.001) or as an adjuvant therapy 83.71% (&lt;i&gt;p&lt;/i&gt; &lt; 0.001) at BRV dosage of 50 to 100 mg BID. This RWE showed the utility of BRV as mono component as an initial add-on strategy in FoS cases.&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 remains a pertinent therapeutic choice for FoS for the treatment naïve and/or BAE cases. Exposure of LEV leads to considerable BAEs compared to patients without LEV exposure. Patients who switched to BRV due to LEV-induced BAEs significantly improved tolerability with BRV irrespective being used as monotherapy or as adjuvant therapy.&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;Current study was planned to understand the clinical role and relevance of third-generation anti-seizure medication (ASM), brivaracetam (BRV) in the real world settings of India. Outcome of the study highlighted that BRV is an emerging, potential and safe ASM treatment option for epilepsy in Indian context. Many patients with epilepsy who are not able to tolerate the other ASM including levetiracetam (LEV) primarily ","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"134-142"},"PeriodicalIF":2.8,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13065","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142617241","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}