Seizure-European Journal of Epilepsy最新文献

{"title":"Neurodevelopmental milestone acquisition following early hemispherotomy in Sturge-Weber syndrome","authors":"Yasushi Iimura ,&nbsp;Hiroharu Suzuki ,&nbsp;Takumi Mitsuhashi ,&nbsp;Tetsuya Ueda ,&nbsp;Kazuki Nishioka ,&nbsp;Kazuki Nomura ,&nbsp;Shimpei Abe ,&nbsp;Mitsuru Ikeno ,&nbsp;Ayuko Igarashi ,&nbsp;Mika Nakazawa ,&nbsp;Shino Shimada ,&nbsp;Takato Akiba ,&nbsp;Shimpei Matsuda ,&nbsp;Hidenori Sugano ,&nbsp;Akihide Kondo","doi":"10.1016/j.seizure.2025.08.006","DOIUrl":"10.1016/j.seizure.2025.08.006","url":null,"abstract":"<div><h3>Purpose</h3><div>To investigate the influence of clinical factors on the acquisition of neurodevelopmental milestones in patients with Sturge-Weber syndrome (SWS) who underwent hemispherotomy.</div></div><div><h3>Methods</h3><div>We retrospectively analyzed 34 patients with SWS who underwent hemispherotomy at the Epilepsy Center of Juntendo University Hospital between 2006 and 2022. Neurodevelopmental milestones were assessed based on the age at acquisition and interval to acquisition following hemispherotomy. Relationships between five clinical factors—age at surgery, surgery side, history of status epilepticus, presence of contralateral lesions, and Engel classification—and neurodevelopmental milestones were analyzed using Spearman’s rank correlation and multiple linear regression models.</div></div><div><h3>Results</h3><div>Motor milestones were achieved at 29 and 38 months of age for standing and walking, respectively. Language milestones were achieved at 28 and 41 months of age for words and sentences, respectively. “Age at surgery” was significantly associated with motor milestones (Age_Standing, <em>r</em> = 0.675, <em>p</em> &lt; 0.001; Age_Walking, <em>r</em> = 0.707, <em>p</em> &lt; 0.001) and “Contralateral lesion” was significantly associated with Age_Word (<em>r</em> = 0.641, <em>p</em> &lt; 0.001). Multiple regression models revealed that age at surgery and contralateral lesions were significant predictors of neurodevelopmental milestone acquisition.</div></div><div><h3>Conclusion</h3><div>Neurodevelopmental milestones were achieved at an average of 29 months for standing, 38 months for walking, 28 months for first words, and 41 months for two-word sentences. Younger age at hemispherotomy and the absence of contralateral lesions were associated with earlier acquisition of neurodevelopmental milestones in patients with SWS.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 327-333"},"PeriodicalIF":2.8,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144830545","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":"Sudden unexplained death in individuals with and without epilepsy","authors":"Marie Kroman Palsøe ,&nbsp;Carl Johann Hansen ,&nbsp;Christian Torp-Pedersen ,&nbsp;Kristian Linnet ,&nbsp;Marius Kløvgaard ,&nbsp;Jacob Tfelt-Hansen ,&nbsp;Jytte Banner","doi":"10.1016/j.seizure.2025.08.007","DOIUrl":"10.1016/j.seizure.2025.08.007","url":null,"abstract":"<div><h3>Purpose</h3><div>We aimed to compare demographics, circumstances, comorbidities, autopsy results, postmortem toxicology, and prescription claims between sudden unexplained deaths (SUD) without and with epilepsy, also known as sudden unexpected death in epilepsy (SUDEP).</div></div><div><h3>Methods</h3><div>SUD cases were identified from forensic autopsy and toxicology reports on a previously identified nationwide population of sudden deaths and sudden cardiac deaths in Denmark. SUD was defined as sudden cardiac death with no/subdiagnostic cardiac pathology and nonlethal toxicology. We included cases between 2000–2019 and 2007–2019 in deceased aged 1–35 years and 36–49 years. SUDEP cases, identified as SUD with epilepsy, were determined using Danish health registries with information on epilepsy-related hospitalizations and antiseizure medication (ASM) claims.</div></div><div><h3>Results</h3><div>We identified 477 SUDs, including 84 (18 %) SUDEP and 393 (82 %) SUDs without epilepsy. Compared with SUDs without epilepsy, SUDEP was significantly associated with unwitnessed death (93 % vs. 75 %, <em>p</em> &lt; 0.001), solitary living (56 % vs. 42 %, <em>p</em> = 0.018), psychiatric comorbidity (36 % vs. 19 %, <em>p</em> &lt; 0.001), and a lower prevalence of subdiagnostic cardiac hypertrophy (7.1 % vs. 22 %, <em>p</em> = 0.002). SUDEP cases exhibited a higher prevalence of proarrhythmic drug claims (88 % vs. 29 %, <em>p</em> &lt; 0.001) and proarrhythmic drugs postmortem (77 % vs. 48 %, <em>p</em> &lt; 0.001), which were attributable to ASM, compared to SUDs without epilepsy.</div></div><div><h3>Conclusion</h3><div>SUDEP cases are more frequently unwitnessed, involve individuals living alone, and are associated with psychiatric comorbidities than SUDs without epilepsy. Enhancing psychiatric care and supervision for individuals with epilepsy may reduce SUDEP incidence. Cardiac evaluations of arrhythmias are crucial before and during ASM administration.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 361-368"},"PeriodicalIF":2.8,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144829008","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":"Antiseizure medications in CDKL5 encephalopathy– systematic review","authors":"Adrianna Kalinowska-Doman ,&nbsp;Adam Strzelczyk ,&nbsp;Justyna Paprocka","doi":"10.1016/j.seizure.2025.08.002","DOIUrl":"10.1016/j.seizure.2025.08.002","url":null,"abstract":"<div><div>Background Cyclin-dependent kinase-like 5 deficiency disorder (CDD) is a disease belonging to the group of developmental and epileptic encephalopathies (DEE), characterized by drug-resistant epilepsy, delayed psychomotor development, premature mortality, and movement disorders. Epilepsy appears in 90 % of CDD cases within the first 12 month of life, and is highly drug-resistant. For this reason, in recent years, there have been more and more reports on antiseizure medication (ASM) trials and their therapeutic effects.</div></div><div><h3>Aim</h3><div>This review aims to summarize the reports and studies on the effectiveness of ASMs therapeutic options developed in recent years, including new generation drugs such as ganaxolone or cannabidiol.</div></div><div><h3>Methods</h3><div>A search of open-access PubMed database was conducted for studies published from January 2019 to October 2024, using the keywords \"cdkl5\", and \"cdkl5 deficiency disorder\". Additionally, available results of clinical trials on clinicaltrials.gov were searched with the same keywords. The reviewer independently screened the literature according to inclusion and exclusion criteria followed by PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines.</div></div><div><h3>Results</h3><div>Treating epilepsy in CDKL5 deficiency disorder remains difficult. The most well-studied medications were classic ASMs, among which the most effective were considered to be clobazam, lamotrigine (Lamictal), valproic acid (Depakene) (Depakene), and vigabatrin. Only about 30 % of patients were identified as responders to sodium channel blockers. Ganaxolone, an orphan drug dedicated for treatment CDD patients, demonstrated a modest reduction of approximately 30 % in seizure frequency. Epidyolex<strong>,</strong> used in the treatment of DEE, including CDD, has shown variable efficacy across patient populations, with the most pronounced benefits observed in reducing motor seizures. Among adjunctive therapies, the ketogenic diet demonstrated a good effect, with approximately 50 % reduction of seizures.</div></div><div><h3>Conclusions</h3><div>Because low number of patients studied worldwide, information on treatment options and outcomes is limited. Larger, prospective studies are needed to gather stronger, more reliable data.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 391-396"},"PeriodicalIF":2.8,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144864425","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":"Global, regional, and national epidemiology of childhood epilepsy from 1990 to 2021: a systematic study based on the GBD 2021","authors":"Kou Xu ,&nbsp;Wenlong Qian ,&nbsp;Wenjuan Xu ,&nbsp;Wenming Yang ,&nbsp;Yulong Yang ,&nbsp;Yuqi Song ,&nbsp;Yuchen Li ,&nbsp;Zhi Yuan ,&nbsp;Siying Zhang ,&nbsp;Furong Zhao ,&nbsp;Wanxu Wei ,&nbsp;Wei He","doi":"10.1016/j.seizure.2025.08.001","DOIUrl":"10.1016/j.seizure.2025.08.001","url":null,"abstract":"<div><h3>Background</h3><div>Epilepsy is one of the most prevalent chronic neurological disorders in children, imposing a substantial global disease burden characterized by neurodevelopmental impairments, premature mortality, and heightened socioeconomic costs. This study aimed to evaluate the global incidence, mortality, and disability-adjusted life years (DALYs) associated with childhood epilepsy from 1990 to 2021, identify key risk factors, and assess differences between regions and countries, while also predicting the global disease burden associated with childhood epilepsy up to 2035.</div></div><div><h3>Method</h3><div>This epidemiological analysis utilized cross-sectional data from the Global Burden of Disease Study 2021 (GBD 2021) to systematically investigate childhood epilepsy trends among individuals aged 0–14 years across 204 global jurisdictions over the period 1990–2021. The study employed a comprehensive analytical framework to assess disease incidence, mortality, and DALYs, alongside their estimated annual percentage changes (EAPCs). Stratification was performed based on geographical distribution, national boundaries, demographic variables (age and sex), and the Socio-demographic Index (SDI). Forecasting of childhood epilepsy trends until 2035 utilized the Autoregressive Integrated Moving Average (ARIMA) model.</div></div><div><h3>Results</h3><div>In 2021, the incident number of global childhood epilepsy reached 1227,191 cases (26.3 % increase since 1990), with an incidence rate rising from 55.9 to 61.0 per 100,000. Mortality declined by 29.5 % (1.5 to 0.9 per 100,000), and DALYs decreased by 14.9 % (EAPC: −1.39 and −0.94, respectively). Socioeconomic disparities were pronounced: low SDI regions had the highest mortality (1.5 per 100,000) and DALYs (244.5 per 100,000), while high SDI regions reported the highest incidence (70.7 per 100,000). Ecuador (120.1 per 100,000) and Tajikistan (2.8 per 100,000) recorded the highest incidence and mortality rates, respectively. The only risk factor for epilepsy-related deaths is high alcohol consumption, accounting for 15.0 %. Projections for 2035 anticipate increased childhood epilepsy cases alongside further deaths and DALYs declines.</div></div><div><h3>Conclusion</h3><div>Childhood epilepsy remains a growing global health concern, with an increasing incidence despite ongoing declines in mortality and DALYs. Although advancements in healthcare have contributed to reduced epilepsy-related deaths and DALYs over time, the absolute burden of this neurological disorder remains substantial, particularly in pediatric populations, with significant regional differences. These findings underscore the urgent need to enhance early screening programs and improve the accessibility of antiepileptic medications, especially in low SDI regions.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 351-360"},"PeriodicalIF":2.8,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144829007","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":"Intravenous perampanel in clinical practice: A multicenter prospective registry study","authors":"Yoshiki Sato ,&nbsp;Kenichiro Iwami ,&nbsp;Eriko Okumura ,&nbsp;Fumiharu Ohka ,&nbsp;Kazuhito Takeuchi ,&nbsp;Shoichi Deguchi ,&nbsp;Yuichi Nagata ,&nbsp;Shinsuke Muraoka ,&nbsp;Tomotaka Ishizaki ,&nbsp;Yoshitaka Nagashima ,&nbsp;Yoshiki Shiba ,&nbsp;Takenori Kato ,&nbsp;Masao Tanbara ,&nbsp;Takahisa Kano ,&nbsp;Toshihisa Nishizawa ,&nbsp;Yu Yamamoto ,&nbsp;Ryuta Saito","doi":"10.1016/j.seizure.2025.07.023","DOIUrl":"10.1016/j.seizure.2025.07.023","url":null,"abstract":"<div><h3>Purpose</h3><div>This study aimed to evaluate the efficacy and safety of intravenous perampanel (IV-PER) in routine clinical practice.</div></div><div><h3>Methods</h3><div>Patients who received IV-PER at Nagoya University Hospital or one of the 21 affiliated institutions between June 2024 and March 2025 were included. Indications for IV-PER included treatment for epileptic seizures, particularly acute symptomatic seizures, and prophylactic use before or after surgery. The primary endpoint was the seizure suppression rate within 7 days of treatment initiation, and the secondary endpoint was the incidence of adverse events (AEs). Clinical data were recorded daily, and blood tests were conducted within 2 weeks of administration. Enrolled patients were categorized into three groups based on the underlying etiology: cerebrovascular disease (CD), brain tumor (BT), and traumatic brain injury (TBI). Treatment efficacy and safety were assessed across these groups.</div></div><div><h3>Results</h3><div>Of the 237 patients, 74, 116, and 47 were classified into the CD, BT, and TBI groups, respectively. The overall seizure suppression rate within 7 days was 89.0 %. Rates by group were 87.8 % (CD), 96.6 % (BT), and 72.3 % (TBI). When stratified by indication, the rates were 99.3 % for prophylactic use, 69.4 % for focal seizures, and 74.4 % for generalized seizures. Regarding AEs, somnolence was reported in 3 patients and irritability in one. Laboratory abnormalities included anemia, elevated liver enzymes, elevated creatine kinase, and hyponatremia. A total of 71 patients experienced one of these.</div></div><div><h3>Conclusions</h3><div>This large multicenter prospective registry demonstrates that IV-PER can be safely used for seizure management during the 7-day acute phase in real-world clinical settings.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 334-339"},"PeriodicalIF":2.8,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144830546","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":"Elevated neuroinflammation and region-specific clinical correlates in drug-resistant focal epilepsy","authors":"Theodore P Imhoff-Smith ,&nbsp;Mariel Kalkach Aparicio ,&nbsp;Santiago Philibert-Rosas ,&nbsp;Samuel A Hurley ,&nbsp;Rosario Ciliento ,&nbsp;Brinda Sevak ,&nbsp;Veena A Nair ,&nbsp;Vivek Prabhakaran ,&nbsp;Alan B McMillan ,&nbsp;Nagesh Adluru ,&nbsp;Aaron F Struck","doi":"10.1016/j.seizure.2025.07.020","DOIUrl":"10.1016/j.seizure.2025.07.020","url":null,"abstract":"<div><h3>Purpose</h3><div>Approximately one-third of patients with epilepsy become refractory to traditional anti-seizure medications. Evidence from animals and in humans suggests a bidirectional relationship between epilepsy and neuroinflammation, offering potential as a novel therapeutic pathway. This study investigates region-specific relationships between neuroinflammation and medication-refractory focal epilepsy using [¹⁸F]FEPPA, a next-generation translocator protein radioligand and biomarker for microglial density with favorable binding kinetics and signal-to-noise ratio compared to [¹¹C]PK11195.</div></div><div><h3>Methods</h3><div>Patients aged 18–55 years and age-matched typical control participants were recruited for this cross-sectional study from the from the UW Health Epilepsy Monitoring Unit or the Dane County, Wisconsin area. Patients demonstrated no gross abnormalities on MRI other than hippocampal sclerosis and patients received a diagnosis of focal epilepsy. Clinical variables were obtained from chart review, interviews, and a patient seizure log. Imaging data were acquired on a GE Signa 3T PET/MR system, processed using PETSurfer, and FEPPA binding was quantified from motion-corrected PET images using standard uptake values (SUVs).</div></div><div><h3>Results</h3><div>Analysis excluded participants with low binding affinity based on TSPO genetic polymorphism (<em>n</em> = 2 controls) or missing imaging data (<em>n</em> = 4), resulting in 12 patients (age=38.3 ± 13.1 years, 4 female) and 9 typical controls (age=35.2 ± 10.2 years, 4 female). Patients with epilepsy showed widespread increases in FEPPA uptake compared to controls. Significant region-specific correlations were revealed between FEPPA uptake and seizure frequency, recency, duration, and lifetime focal-to-bilateral tonic-clonic seizures. In one patient with frontal lobe epilepsy and pre- and post-ictal scans, greater mesiotemporal uptake was observed following seizure relative the interictal period, suggestive of secondary epileptogenesis. FEPPA did not correlate with systemic inflammatory markers.</div></div><div><h3>Conclusion</h3><div>Findings detail a region-specific interplay between neuroinflammation, seizure activity, and recovery in focal epilepsy. Reductions in entorhinal cortex [¹⁸F]FEPPA SUVs with increasing time from seizure suggest its potential as a dynamic index of post-ictal recovery, while altered uptake in the hippocampus and amygdala may serve as more static markers of disease burden. These results lay the groundwork for further investigation of neuroinflammation as a therapeutic target in epilepsy and support the potential integration of [¹⁸F]FEPPA PET into clinical practice as a biomarker of disease burden and treatment response.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 257-264"},"PeriodicalIF":2.8,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144779543","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":"DNM1L-related rapid-onset encephalopathy with super-refractory status epilepticus: case report and literature review","authors":"Chiara Zacchè ,&nbsp;Maria Luigia Gambardella ,&nbsp;Michela Quintiliani ,&nbsp;Marco Perulli ,&nbsp;Silvia Pulitanò ,&nbsp;Ida Turrini ,&nbsp;Ilaria Contaldo ,&nbsp;Domenica Immacolata Battaglia ,&nbsp;Chiara Veredice","doi":"10.1016/j.seizure.2025.07.017","DOIUrl":"10.1016/j.seizure.2025.07.017","url":null,"abstract":"","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 314-321"},"PeriodicalIF":2.8,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144827338","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":"Risk factors to predict mortality in people with seizures reattending emergency departments: a dual-centre study","authors":"Madeleine Dale ,&nbsp;Sarah Lennard ,&nbsp;William Henley ,&nbsp;Brendan Mclean ,&nbsp;Mark Jadav ,&nbsp;Richard Laugharne ,&nbsp;Gurjit Chohan ,&nbsp;Sarah Trippier ,&nbsp;Laura Sewell ,&nbsp;Jamie Ford ,&nbsp;Sarah Davis ,&nbsp;Rohit Shankar","doi":"10.1016/j.seizure.2025.07.022","DOIUrl":"10.1016/j.seizure.2025.07.022","url":null,"abstract":"<div><h3>Background</h3><div>Recurrent seizure-related emergency department (ED) attendances are common and associated with poor outcomes. We aimed to identify factors associated with repeated seizure-related ED use and to develop a mortality risk score among individuals re-attending with seizures.</div></div><div><h3>Methods</h3><div>We conducted a retrospective cohort study across two district general hospitals in South-West England, Royal Cornwall Hospitals NHS Trust (RCH; 2015–2018) and Royal United Hospitals Bath NHS Trust (RUH; 2018–2022). Adults (≥18 years) with ≥2 seizure-related ED attendances were included. Negative binomial regression was used to examine demographic and clinical predictors of repeat attendances. A risk score based on these predictors was developed and applied to individuals presenting with a first seizure. Cox proportional hazards models estimated the association between risk score tertiles and all-cause mortality, adjusted for age and sex.</div></div><div><h3>Results</h3><div>A total of 997 patients were included (RUH <em>n</em> = 547; RCH <em>n</em> = 450). Increased frequency of seizure-related ED attendances was independently associated with higher socioeconomic deprivation (IRR 1.16, <em>p</em> = 0.01), homelessness (IRR 1.76, <em>p</em> &lt; 0.01), and mental health conditions (IRR 1.24, <em>p</em> &lt; 0.01). Intellectual disability showed a marginal association (IRR 1.12, <em>p</em> = 0.09). Among patients with a first seizure, those in the middle risk score tertile had significantly increased mortality risk at RUH (HR 2.14, 95 % CI 1.05–4.34). Associations were not statistically significant at RCH.</div></div><div><h3>Conclusions</h3><div>Sociodemographic and clinical factors contribute to repeated seizure-related ED attendances. A simple risk score may stratify mortality risk after first seizure reattendance, warranting further validation. Targeted multidisciplinary interventions may improve outcomes and reduce unnecessary ED use.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 46-53"},"PeriodicalIF":2.8,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144994255","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":"Severe epilepsy phenotypes in adults with succinic semialdehyde dehydrogenase deficiency: Novel clinical and therapeutic insights from an Italian multicenter retrospective cohort study","authors":"Laura Canafoglia ,&nbsp;Mario Mastrangelo ,&nbsp;Marco Russo ,&nbsp;Jacopo C. DiFrancesco ,&nbsp;Andrea Stabile ,&nbsp;Fabio M. Doniselli ,&nbsp;Roberta Di Giacomo ,&nbsp;Giuseppe Didato ,&nbsp;Silvia Esposito ,&nbsp;Claudio Caccia ,&nbsp;Francesco Pisani ,&nbsp;Emilio Russo ,&nbsp;Romana Rizzi ,&nbsp;Cinzia Gellera ,&nbsp;Barbara Castellotti","doi":"10.1016/j.seizure.2025.07.018","DOIUrl":"10.1016/j.seizure.2025.07.018","url":null,"abstract":"<div><div><em>Purpose:</em> To describe the epileptic phenotypes in a series of adults with succinic semialdehyde dehydrogenase deficiency (SSADHD) and to evaluate the efficacy of novel treatments.</div><div><em>Methods:</em> We retrospectively reviewed the charts from seven adult patients followed at four Italian Epilepsy Centers. All cases had biallelic variants in the <em>ALDH5A1</em> gene; three of these were novel: c.1205T&gt;A (p.Val402Glu), c.1630delT (p.Cys544Valfs*15), and c.141C&gt;G (p.Tyr47Ter).</div><div><em>Results:</em> Patients (age at last follow-up: 33.8 ± 8.8 years) had moderate motor deficits and variable degrees of intellectual disability, often with psychiatric symptoms. Epilepsy had heterogeneous presentations, with a mean onset age of 13.1 ± 7.7 years. Drug-resistant seizures and convulsive <em>status epilepticus</em> (SE) occurred in five and three patients respectively; two had possible sudden unexpected death in epilepsy. Prolonged episodes of impaired awareness that preceded or followed convulsive SE were associated with epileptic discharges on EEG and were classified as non-convulsive seizures. In two patients, add-on cenobamate led to a reduction in tonic-clonic seizures and SE. In all cases, brain MRI showed T2 hyperintensity in pallidi and dentate nuclei.</div><div><em>Conclusions:</em> Epilepsy in SSADHD is believed to result from compensatory mechanisms within the GABAergic system. Cenobamate could have a therapeutic effect on patients with SSADHD by modulating GABA_A receptors via a non-benzodiazepine site. However, this observation warrants further investigation, including potential benefits beyond seizure control. Epileptologists should consider SSADHD in patients with prolonged non-convulsive seizures or SE, especially when accompanied by developmental, movement, or psychiatric comorbidities and the characteristic neuroradiological features.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 252-256"},"PeriodicalIF":2.8,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144772436","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":"Epidemiological trends of idiopathic epilepsy in Central Asia: Insights from the global burden of disease study (1990–2021)","authors":"Dina Kalinina ,&nbsp;Ruslan Akhmedullin ,&nbsp;Alimzhan Muxunov ,&nbsp;Radmir Sarsenov ,&nbsp;Antonio Sarria-Santamera","doi":"10.1016/j.seizure.2025.07.013","DOIUrl":"10.1016/j.seizure.2025.07.013","url":null,"abstract":"<div><h3>Background</h3><div>Epilepsy is one of the major neurological disorders affecting millions of people worldwide, with significant variations in incidence and prevalence across different regions. This study focuses on the epidemiological trends of idiopathic epilepsy in Central Asia, a region characterized by a long process of healthcare system transformation and socioeconomic conditions after the collapse of the Soviet Union. Understanding these trends is crucial for developing effective public health strategies tailored to the unique needs of the population.</div></div><div><h3>Methods</h3><div>GBD 2021 data were analyzed for 9 Central Asian countries (Armenia, Azerbaijan, Georgia, Kazakhstan, Kyrgyzstan, Tajikistan, Turkmenistan, Uzbekistan, Mongolia), identifying trends in incidence, prevalence, mortality, and disability-adjusted life years associated with idiopathic epilepsy from 1990–2021. The average annual percentage change (AAPC) was determined to compare regional and global trends. The data were disaggregated by country, year, age, and sex to identify demographic patterns.</div></div><div><h3>Results</h3><div>In 2021, the highest prevalence of idiopathic epilepsy was in Uzbekistan (473 per 100,000; 95 % UI: 140.1–761.1), while Armenia had the lowest (291.3; 95 % UI: 94.8–486.1). Incidence decreased across most countries, with Tajikistan showing a significant decline (AAPC:0.89 %; 95 % CI:0.98 to –0.8). Mortality was highest in Tajikistan (4.6; 95 % UI: 3.4–6.1) and lowest in Armenia (0.9; 95 % UI: 0.7–1.1). DALYs were highest in Tajikistan (422.7; 95 % UI: 284.1–591.7) and lowest in Armenia (118.8; 95 % UI: 57.4–204.9). Most trends were declining, except for Turkmenistan, which showed increases in prevalence and DALYs. The sex-specific estimates are consistently greater in the male population across all the metrics.</div></div><div><h3>Conclusions</h3><div>Central Asia has demonstrated promising downward trends in the burden of epilepsy; however, challenges persist in some countries. This study underscores the urgent need for local data generation, robust registries, and tailored policies to improve care for people with epilepsy in the region.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 233-239"},"PeriodicalIF":2.8,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144738349","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}