Epilepsia Open最新文献

{"title":"Communicating a diagnosis of Dravet syndrome to parents/caregivers: An international Delphi consensus","authors":"Andreas Brunklaus, Susanne Schubert-Bast, Francesca Darra, Katherine Nickels, Delphine Breuillard, Andrea Giuffrida, Claire Eldred, Silke Flege, Elena Cardenal-Muñoz, Rocío Sánchez-Carpintero","doi":"10.1002/epi4.13127","DOIUrl":"10.1002/epi4.13127","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Dravet syndrome is a developmental and epileptic encephalopathy characterized by drug-resistance, lifelong seizures, and significant comorbidities including intellectual and motor impairment. Receiving a diagnosis of Dravet syndrome is challenging for parents/caregivers, and little research has focused on how the diagnosis should be given. A Delphi consensus process was undertaken to determine key aspects for healthcare professionals (HCPs) to consider when communicating a Dravet syndrome diagnosis to parents/caregivers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Following a literature search and steering committee review, 34 statements relating to the first diagnosis consultation were independent- and anonymously voted on (from 1, totally inappropriate, to 9, totally appropriate) by an international group of expert child neurologists, neuropsychiatrists, nurses, and patient advisory group (PAG) representatives. The statements were divided into five chapters: (i) communication during the first diagnosis consultation, (ii) information to be delivered during the first diagnosis consultation, (iii) points to be reiterated at the end of the first diagnosis consultation, (iv) information to be delivered at subsequent consultations, and (v) communication around genetic testing. Statements receiving ≥ 75% of the votes with a score of ≥7 and/or with a median score of ≥8 were considered consensual.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The statements were evaluated by 44 HCPs and PAG representatives in the first round of voting; 29 statements obtained strong consensus, 3 received good consensus, and 2 did not reach consensus. The committee reformulated and resubmitted 4 statements for evaluation (42/44 voters): 3 obtained strong consensus and 1 remained not consensual. The final consensual recommendations include guidance on consultation setting, key disease aspects to convey, how to discuss genetic testing results, disease evolution, and the risk of SUDEP, among other topics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>It is hoped that this international Delphi consensus will facilitate a better-structured initial diagnosis consultation and offer further support for parents/caregivers at this challenging time of learning about Dravet syndrome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Diagnosis of Dravet syndrome, a rare and severe form of childhood-onset epilepsy, is often challen","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 2","pages":"450-465"},"PeriodicalIF":2.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13127","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074356","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 impact of ketogenic diet on the frequency of psychogenic non-epileptic seizures (PNES): A feasibility randomized pilot study","authors":"Reinhard Janssen-Aguilar,&nbsp;Juan Galindez-de la Portilla,&nbsp;Iris E. Martínez-Juárez,&nbsp;Claudia Mimiaga-Hernandez,&nbsp;Gabriel Alvarado-Luis,&nbsp;Andrea Aguilar-Hernandez,&nbsp;Kevin Alan Garcia-Esparza,&nbsp;Mariel Hernadez-Palestina,&nbsp;Daniel Crail-Meléndez","doi":"10.1002/epi4.13131","DOIUrl":"10.1002/epi4.13131","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>The potential of dietary interventions, particularly the use of the ketogenic diet in patients with Psychogenic Non-Epileptic Seizures (PNES), remains underexplored. This study aimed to assess the feasibility of a 6-week ketogenic diet (Modified Atkins Diet, MAD) intervention in adult patients with PNES and to compare its effects on PNES frequency and other variables against a control healthy diet (CD). A feasibility pilot randomized controlled trial was conducted at a tertiary neurology hospital, enrolling outpatients diagnosed with PNES and assigning them to either MAD or CD. Baseline and follow-up assessments (at 2, 4, and 6 weeks) included evaluation of mental health, PNES frequency, and metabolic measures. Descriptive and inferential methods, including repeated measures ANOVA, were used for statistical analysis. Seventeen patients (mean age 28.23 ± 7.1) were randomly allocated to receive either MAD (<i>n</i> = 12) or CD (<i>n</i> = 5). The entire sample exhibited a significant decrease in monthly PNES frequency (<i>p</i> = 0.01, Hedges ES = 0.618) without differences between groups. The MAD group showed significant improvement in PNES frequency, depression, and anxiety at week six. Results demonstrate that the implementation of MAD is feasible in patients with PNES and suggest that it may reduce seizure frequency and symptoms of depression and anxiety. These findings warrant further investigation in larger, powered studies to demonstrate efficacy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>This study explored the potential benefits of the Modified Atkins Diet (MAD) in reducing the frequency of psychogenic non-epileptic seizures (PNES). The results showed that the diet is safe, well-tolerated, and may decrease the occurrence of PNES, as well as symptoms of depression and anxiety. These findings suggest that dietary modifications could be a helpful complement to PNES treatment, though larger studies are necessary to confirm these outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 2","pages":"602-608"},"PeriodicalIF":2.8,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13131","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143002834","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":"Anti-GAD65 musicogenic epilepsy: Bilateral and independent mesial temporal seizures revealed by foramen ovale electrodes","authors":"Roberta Di Giacomo,&nbsp;Giulia Maccanti,&nbsp;Vadym Gnatkovsky,&nbsp;Giampaolo Vatti,&nbsp;Annalisa Parente,&nbsp;Ambra Dominese,&nbsp;Davide Rossi Sebastiano,&nbsp;Fabio Martino Doniselli,&nbsp;Francesca Andreetta,&nbsp;Andrea Stabile,&nbsp;Francesco Deleo,&nbsp;Chiara Pastori,&nbsp;Giulia Battaglia,&nbsp;Dunja Duran,&nbsp;Giuseppe Didato,&nbsp;Angelo Del Sole,&nbsp;Michele Rizzi,&nbsp;Marco de Curtis","doi":"10.1002/epi4.13132","DOIUrl":"10.1002/epi4.13132","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Musicogenic epilepsy (ME) is characterized by seizures triggered by music. The epileptogenic focus in this rare reflex epilepsy is often in the temporal lobe, although the precise localization is still unclear. A correlation between ME and the presence of GAD65 antibodies indicates a potential immunological pathogenic mechanism. We evaluated a 32-year-old woman with drug-resistant temporal lobe epilepsy as a candidate for epilepsy surgery. In the absence of clear clinical lateralizing signs, video-EEG monitoring with intracranial electrodes inserted through the foramen ovale was performed to record from the amygdalo-hippocampal regions. The foramen ovale electrodes revealed bilateral, asynchronous, and independent seizure onsets in the mesial temporal regions triggered by music. Testing for GAD65 antibodies confirmed high-titer positivity. The efficacy of epilepsy surgery in antiGAD65-positive ME patients remains limited. We highlight the use of semi-invasive recording with foramen ovale electrodes in ME, as it can reveal bilateral seizures of mesial origin that contraindicate surgery and support the consideration of immunotherapy options.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Musicogenic epilepsy is a type of epilepsy in which music triggers seizures. Our understanding of its origin and cause is still limited. We assessed a patient with music-induced seizures to see if surgery was an option. Since noninvasive tests before surgery were not clear, we used a minimally invasive method with electrodes inserted through a small opening in the skull called the foramen ovale to record the seizures. Thus, we found that the seizures started independently from both temporal lobes, contraindicating epilepsy surgery. We also found high levels of GAD65 antibodies indicating an immunological pathogenic mechanism.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 2","pages":"609-614"},"PeriodicalIF":2.8,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13132","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143002829","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":"NORSE secondary to anti-GAD65 antibody-positive encephalitis treated with novel adjunctive rapid titration VNS protocol","authors":"Mingyu Li,&nbsp;Nilufer Yalcin,&nbsp;Danielle L. Weiss,&nbsp;Leila A. T. Hill,&nbsp;Manan Shah,&nbsp;Klepper Alfredo Garcia,&nbsp;Fernando L. Vale Diaz,&nbsp;Luis G. Rueda Carrillo,&nbsp;Hunter Smith,&nbsp;Debra T. Moore-Hill","doi":"10.1002/epi4.13096","DOIUrl":"10.1002/epi4.13096","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>New Onset Refractory Status Epilepticus (NORSE) is a rare and severe condition characterized by refractory seizures in individuals without a prior history of epilepsy. This case report describes a 37-year-old woman diagnosed with anti-glutamic acid decarboxylase 65 (anti-GAD65) antibody-positive encephalitis-related NORSE. Her seizures were refractory to multiple interventions, including anti-seizure medications, anesthetics, immunotherapies, a ketogenic diet, and electroconvulsive therapy. Seizures recurred twice during the tapering of anesthetic medications. However, after 32 days of treatment, the seizures were successfully controlled. To maintain seizure control and facilitate the weaning of anesthetics, a Vagus Nerve Stimulator (VNS) was implanted using a novel rapid titration protocol. This allowed for the successful tapering of anesthetics by day 50, with no recurrence of seizures. At her 9-month follow-up, the patient remained seizure-free and had an improved quality of life. This case highlights that early initiation of immunosuppressive treatment may lead to a favorable prognosis. The novel application of VNS therapy assisted seizure control in NORSE, thus encouraging further research investigating the potential role of VNS in this condition.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>New Onset Refractory Status Epilepticus (NORSE) is a rare and severe condition characterized by relentless seizures in individuals without a prior epilepsy history. This report shares the case of a 37-year-old woman with NORSE, associated with a high anti-glutamic acid decarboxylase 65 antibody titer. Her seizures were super-refractory, requiring multiple anti-seizure medications, anesthetics, immunotherapies, a ketogenic diet, and electroconvulsive therapy. Seizures recurred twice during the tapering of anesthetic medications. However, by hospital day 32, the seizures were successfully controlled with these interventions. To further stabilize seizure control and enable the successful discontinuation of anesthetics, a Vagus Nerve Stimulator (VNS) was implanted. The patient had no further seizures and gradually recovered back to her pre-disease baseline. This case suggests that a novel rapid VNS titration protocol could be a promising treatment option for NORSE, warranting further investigation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 2","pages":"581-586"},"PeriodicalIF":2.8,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13096","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970238","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":"PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism","authors":"Antonio Gambardella,&nbsp;Yu-Chi Liu,&nbsp;Mark F. Bennett,&nbsp;Timothy E. Green,&nbsp;John A. Damiano,&nbsp;Francesco Fortunato,&nbsp;Matthew J. Coleman,&nbsp;Jacqueline Cherfils,&nbsp;Jean-Vianney Barnier,&nbsp;Jozef Gecz,&nbsp;Melanie Bahlo,&nbsp;Samuel F. Berkovic,&nbsp;Michael S. Hildebrand","doi":"10.1002/epi4.13124","DOIUrl":"10.1002/epi4.13124","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Protein-activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21-activated kinases (PAKs) family of Ras-signaling serine/threonine kinases. Pathogenic variants in the X-linked gene <i>PAK3</i> have been described in patients with neurodevelopmental syndromes. We analyzed an Italian family with sleep-related hypermotor epilepsy, intellectual disability, psychiatric and behavioral problems, and dysmorphic facial features. A novel <i>PAK3</i> c.342_344del (p.Lys114del) inframe deletion was detected in the family. Protein structure analysis supported deleterious impact of p.Lys114 deletion through loss or partial loss of autoinhibition of PAK3 protein kinase activity. The male proband had drug-resistant hypermotor seizures and moderate intellectual disability. His brother had drug-responsive hypermotor seizures and mild intellectual disability. Both brothers were hemizygous and had psychiatric and behavioral problems as well as dysmorphic facial features. Their mother had never had seizures but was shown to be mosaic for the <i>PAK3</i> pathogenic variant. She had normal intellect but did have short stature and dysmorphic facial features similar to her sons. This is the first reported association of a <i>PAK3</i> pathogenic variant with sleep-related hypermotor epilepsy. <i>PAK3</i> testing should be considered in families with suspected X-linked sleep-related hypermotor epilepsy and intellectual disability, including for mosaicism in mildly affected females.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>We studied an Italian family with sleep-related hypermotor epilepsy, intellectual disability, psychiatric and behavioral problems, and dysmorphic facial features. A novel <i>PAK3</i> c.342_344del (p.Lys114del) inframe deletion was detected in the family. Protein structure analysis supported deleterious impact of p.Lys114 deletion through loss or partial loss of autoinhibition of PAK3 protein kinase activity. This is the first reported association of a <i>PAK3</i> pathogenic variant with sleep-related hypermotor epilepsy. <i>PAK3</i> testing should be considered in families with suspected X-linked sleep-related hypermotor epilepsy and intellectual disability, including for mosaicism in mildly affected females.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 2","pages":"593-601"},"PeriodicalIF":2.8,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13124","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142978074","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":"Rapid response electroencephalography decreases time to seizure diagnosis in pediatric acute care patients","authors":"Nevedha Rajan,&nbsp;Toni Kavanagh,&nbsp;Maite LaVega-Talbott,&nbsp;Sandeep Gangadharan","doi":"10.1002/epi4.13120","DOIUrl":"10.1002/epi4.13120","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objectives&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Pediatric status epilepticus (SE) carries a high risk of morbidity and mortality and can result in neurologic injury. Establishing seizure activity on conventional EEG (cEEG) is essential but can delay treatment of seizures due to technician limitations. Rapid response EEG (rrEEG) device Ceribell and its Brain Stethoscope function can be used and interpreted rapidly by bedside providers with minimal training. This retrospective pilot study examines the impact of rrEEG introduction at a quaternary care children's hospital on time to definitive diagnosis and treatment, as well as the accuracy of the Brain Stethoscope.&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 was a single center retrospective observational cohort study that analyzed data from patients 2–18 years old who presented with concerns for SE. For rrEEG patients, the bedside physician used the Brain Stethoscope at four discrete points. TDEA (time to diagnosis of electrographic activity) and setup time were recorded and compared using Welch's &lt;i&gt;T&lt;/i&gt;-test. Diagnostic specificity and sensitivity for SE using the Brain Stethoscope were calculated against the epileptologist's assessment.&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;Data were collected from 30 pediatric patients, 15 on each EEG modality. RrEEG decreased the average TDEA (132 min vs. 22 min, &lt;i&gt;p&lt;/i&gt; &lt; 0.001) and setup time (22 min vs. 9 min, &lt;i&gt;p&lt;/i&gt; &lt; 0.001), compared to the cEEG. Bedside physicians diagnosed electrographic activity using the Brain Stethoscope with 100% sensitivity (95% CI 63%–100%) and 92% specificity (95% CI 81%–97%). RrEEG ruled out seizures in 11 patients and changed clinical decision-making in five 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;RrEEG allowed for earlier diagnosis of brain electrographic activity in pediatric patients when compared to cEEG. The bedside provider was able to initiate EEG monitoring, successfully diagnose patients using the Brain Stethoscope, and decrease delays associated with technician availability. This promising rrEEG technology can facilitate faster assessment of SE in pediatric acute care settings, potentially reducing ongoing neurologic injury.&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;Prolonged seizures in pediatric patients can cause death. Children can have seizures that are happening in the brain, but cannot be seen physically. They can be diagnosed by a machine that records the","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"277-285"},"PeriodicalIF":2.8,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13120","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926883","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":"Adaptation of the disease-related apathy scale in adults with epilepsy into Turkish: A methodological study","authors":"Gülcan Bahcecioglu Turan,&nbsp;Zülfünaz Özer,&nbsp;Seda Başak","doi":"10.1002/epi4.13094","DOIUrl":"10.1002/epi4.13094","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study was conducted to culturally adapt the Epilepsy-Related Apathy Scale in Adults with Epilepsy (E-RAS) to Turkish and to assess its psychometric properties in adult epilepsy patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 172 epilepsy patients receiving care at the Neurology clinic and outpatient clinic of Fırat University Hospital from February to July 2023 were included in this methodological investigation. The E-RAS was translated into Turkish, and its content and construct validity were thoroughly examined. Construct validity was assessed through exploratory factor analysis (EFA) and confirmatory factor analysis (CFA). Reliability was evaluated through item analyses, internal consistency analysis, composite reliability coefficient, and mean explained variance analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The factor loadings of the scale items ranged from 0.66 to 0.89. The fit index values of the scale were <i>X</i>² = 467.09, df = 245 (<i>p</i> &lt;0.05), <i>X</i>²/df = 1.9, RMSEA = 0.073, CFI = 0.97, RMR = 0.046, SRMR = 0.057, TLI = 0.97, and AIC = 557.09. The Cronbach's alpha coefficients of the sub-dimensions of the scale ranged from 0.880 to 0.992, and the total Cronbach's alpha coefficient was 0.928. The total McDonald's omega coefficient was 0.916, and the McDonald's omega coefficients of the sub-dimensions ranged from 0.880 to 0.947. The Turkish form of the 24-item and 4-sub-dimensional scale was validated without any changes to the original scale form.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>The Turkish adaptation of E-RAS is a valid and reliable instrument for measuring apathy in adult epilepsy patients. Its use in clinical practice is strongly recommended.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>The E-RAS scale can be used to assess apathy in adults with epilepsy. The was determined that the adapted Turkish form had a similar structure to the original scale. It was determined that the E-RAS scale is valid and reliable in Turkish culture. The fact that the Turkish adaptation of the scale is similar to the original structure and other adapted cultures is a factor that facilitates its use and acceptance in international comparisons. The scale can be used to assess apathy in adults with epilepsy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"210-221"},"PeriodicalIF":2.8,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13094","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142920802","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":"Clinical characteristics, etiology, and treatment of young adult-onset epilepsy: A 24-year retrospective study","authors":"Xu Zhang,&nbsp;Feng Xiang,&nbsp;Ziyu Wang,&nbsp;Yang Li,&nbsp;Chenjing Shao,&nbsp;Xiaoyang Lan,&nbsp;Senyang Lang,&nbsp;Xiangqing Wang","doi":"10.1002/epi4.13126","DOIUrl":"10.1002/epi4.13126","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 analyze the clinical characteristics, etiology, drug treatment, and related factors of patients with young adult-onset 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;The study included patients with epilepsy aged between 18 and 44 years and aimed to analyze the clinical characteristics of epilepsy in young people and their response to antiseizure medication (ASM) over a 24-year period (February 1999 and March 2023).&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 4227 patients experienced epilepsy onset between 18 and 44 years of age. The median age of onset was 26 years (interquartile range [IQR]: 21–33), and the median duration from the first seizure to starting treatment was 3 months (IQR: 1.0–6.0). Structural etiology was the most common cause of epilepsy, accounting for 43.2% (1827/4227) of cases, of which head trauma and a history of craniotomy accounted for 64.9% (1186/1827). However, these two causes did not necessarily result in prompt medication or poor epilepsy control. Co-morbid cognitive decline was more prevalent than headache and anxiety/depression. Multifactorial regression analysis showed that the factors associated with poor seizure control included longer seizure duration (odds ratio [OR] 1.85; 95% confidence interval [CI] 1.58-2.16; &lt;i&gt;p&lt;/i&gt; &lt; 0.001), electroencephalography (EEG) epileptic discharge (OR 1.37; 95% CI 1.17–1.67; &lt;i&gt;p&lt;/i&gt; &lt; 0.001), focal seizure (OR 1.69; 95% CI 1.38–2.07; &lt;i&gt;p&lt;/i&gt; &lt; 0.001), and seizure clusters (OR 3.35; 95% CI 2.70–4.15; &lt;i&gt;p&lt;/i&gt; &lt; 0.001). Initiating treatment after two seizures (OR, 1.18; 95% CI 0.98–1.15; &lt;i&gt;p&lt;/i&gt; = .08) or 6 months after the first seizure (OR 0.84; 95% CI 0.67–1.03; &lt;i&gt;p&lt;/i&gt; = .09) did not worsen effectiveness.&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;Young adult-onset epilepsy was frequently caused by head trauma or craniotomies. Co-morbid cognitive decline was more prevalent than headache and anxiety/depression. The median time from the first seizure to follow-up treatment was 3 months (IQR: 1.0–6.0). Initiating treatment after two seizures did not necessarily indicate poor drug effectiveness.&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;In this article, we observed that young adult-onset epilepsy was mainly caused by head trauma and craniotomy; co-morbid cognitive decline was more common. The median duration from first seizure to initiation of treatment for young-onset epilepsy","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"298-306"},"PeriodicalIF":2.8,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13126","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142906807","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 sphingosine-1-phosphate signaling pathway (sphingosine-1-phosphate and its receptor, sphingosine kinase) and epilepsy","authors":"Lin Wang,&nbsp;Qingxia Kong,&nbsp;Xinyi Leng,&nbsp;Howan Leung,&nbsp;Yang Li","doi":"10.1002/epi4.13112","DOIUrl":"10.1002/epi4.13112","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Epilepsy is one of the common chronic neurological diseases, affecting more than 70 million people worldwide. The brains of people with epilepsy exhibit a pathological and persistent propensity for recurrent seizures. Epilepsy often coexists with cardiovascular disease, cognitive dysfunction, depression, etc., which seriously affects the patient's quality of life. Although our understanding of epilepsy has advanced, the pathophysiological mechanisms leading to epileptogenesis, drug resistance, and associated comorbidities remain largely unknown. The use of newer antiepileptic drugs has increased, but this has not improved overall outcomes. We need to deeply study the pathogenesis of epilepsy and find drugs that can not only prevent the epileptogenesis and interfere with the process of epileptogenesis but also treat epilepsy comorbidities. Sphingosine-1-phosphate (S1P) is an important lipid molecule. It not only forms the basis of cell membranes but is also an important bioactive mediator. It can not only act as a second messenger in cells to activate downstream signaling pathways but can also exert biological effects by being secreted outside cells and binding to S1P receptors on the cell membrane. Fingolimod (FTY720) is the first S1P receptor modulator developed and approved for the treatment of multiple sclerosis. More and more studies have proven that the S1P signaling pathway is closely related to epilepsy, drug-resistant epilepsy, epilepsy comorbidities, or other epilepsy-causing diseases. However, there is much controversy over the role of certain natural molecules in the pathway and receptor modulators (such as FTY720) in epilepsy. Here, we summarize and analyze the role of the S1P signaling pathway in epilepsy, provide a basis for finding potential therapeutic targets and/or epileptogenic biomarkers, analyze the reasons for these controversies, and put forward our opinions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>This article combines the latest research literature at home and abroad to review the sphingosine 1-phosphate signaling pathway and epileptogenesis, drug-resistant epilepsy, epilepsy comorbidities, other diseases that can cause epilepsy, as well as the sphingosine-1-phosphate signaling pathway regulators and epilepsy, with the expectation of providing a certain theoretical basis for finding potential epilepsy treatment targets and/or epileptogenic biomarkers in the sphingosine-1-phosphate signaling pathway.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"55-73"},"PeriodicalIF":2.8,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13112","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893340","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":"Inherited metabolic epilepsies-established diseases, new approaches.","authors":"Itay Tokatly Latzer, Phillip L Pearl","doi":"10.1002/epi4.13121","DOIUrl":"https://doi.org/10.1002/epi4.13121","url":null,"abstract":"<p><p>Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity. These characteristics make it particularly challenging to establish their targeted therapies, and many of the IMEs are treated nowadays only symptomatically and supportively. However, owing to immense molecular and genetic progress in the last decades, important features of their pathomechanisms have been elucidated. This has led to advancements in the development of novel diagnostic approaches and specific therapies for a considerable number of these unique disorders. This review provides an overview of the broad approach to the diagnosis and management of IMEs, along with their eminent and new individual treatment options, ranging from dietary therapies and vitamins to enzyme and gene replacement therapies. PLAIN LANGUAGE SUMMARY: Inherited metabolic disorders (IMDs) in which epilepsy is a main symptom are considered inherited metabolic epilepsies (IMEs). It is challenging to develop targeted therapies for IMEs since they are rare and individually different in characteristics. Therefore, many of the IMEs are currently treated only symptomatically. However, scientific progress in the last decades led to the creation of specific treatments for many of these unique disorders. This review provides an overview of the approach to the diagnosis and management of IMEs, including the available newer therapeutic modalities.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893296","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}