Seizure-European Journal of Epilepsy最新文献

{"title":"Prevalence of posttraumatic stress disorder in adults with epilepsy: A meta-analysis","authors":"Deniz Ertan ,&nbsp;Alexis Tarrada ,&nbsp;Wissam El-Hage ,&nbsp;Stephane Sanchez ,&nbsp;Emeline Four ,&nbsp;Nicolas Mezouar ,&nbsp;Louis Maillard ,&nbsp;Jan Chrusciel ,&nbsp;Coraline Hingray","doi":"10.1016/j.seizure.2024.12.013","DOIUrl":"10.1016/j.seizure.2024.12.013","url":null,"abstract":"<div><div>Many studies highlight the increased risk of posttraumatic stress disorder (PTSD) in people with epilepsy (PWE). Despite the presence of significant research focusing on PTSD in PWE, the methodologies and results of these studies are heterogenous. Therefore, we aim to synthetize the literature and assess the prevalence of PTSD in PWE. We conducted a systematic literature to calculate a pooled prevalence of PTSD in adults with epilepsy. If the studies included patients with functional/dissociative seizure (FDS), a pooled prevalence of PTSD was also calculated for this group. The literature search yielded 10,732 articles, of which 38 studies met our inclusion criteria. High heterogeneity in PTSD prevalence estimates was found across studies for both epilepsy (I²= 97.0 %) and FDS (I² = 90.7 %). The pooled prevalence of PTSD among the epilepsy group (<em>n</em> = 5545) was 7.7 % [95 % CI: 5.2 %; 11.2 %], whereas for the FDS group (<em>n</em> = 1409), it was 33.4 % [95 % CI: 23.4 %; 45.2 %]. Our sensitivity analysis, including only studies with semi-structured interviews and validated questionnaires, found a pooled PTSD prevalence of 6.7 % [95 % CI: 4.3 to 10.3] in epilepsy patients and 33.1 % [95 % CI: 21.8 to 46.8] in FDS patients. Our study underscores the importance of systematically evaluating traumatic experiences as using standardized, validated scales combined with structured clinical interviews for PTSD diagnosis.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"126 ","pages":"Pages 32-42"},"PeriodicalIF":2.7,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143285077","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":"Modified Atkins Diet versus low glycemic index treatment in children with drug-resistant epilepsy: A systematic review and meta-analysis.","authors":"Indar Kumar Sharawat, Pragnya Panda, Lesa Dawman, Diksha Gupta, Prateek Kumar Panda","doi":"10.1016/j.seizure.2024.12.001","DOIUrl":"https://doi.org/10.1016/j.seizure.2024.12.001","url":null,"abstract":"<p><strong>Introduction: </strong>Both the Modified Atkins Diet (MAD) and Low Glycemic Index Treatment(LGIT) are considered less restrictive than the ketogenic diet and effective in children with drug-resistant epilepsy(DRE). Several randomized controlled trials (RCTs) have compared these two diets.</p><p><strong>Methods: </strong>All RCTs directly comparing MAD and LGIT for DRE were included in the review. We pooled estimates for percentage seizure frequency reduction, the number of participants with seizure freedom, ≥90 % and ≥50 % reduction in seizure frequency, as well as changes in cognition, behavior, and adverse effects in both groups.</p><p><strong>Results: </strong>Three RCTs with 265 participants were included. The pooled estimates for the number of children achieving seizure freedom, ≥50 %, and ≥90 % reduction in seizure frequency post-intervention, as well as weekly percentage seizure frequency reduction, were comparable between the MAD and LGIT groups(RR: 1.24 [95 % CI: 0.71-2.16]; I²=0 %, p = 0.45, RR: 0.86 [95 % CI: 0.57-1.29]; I²=62 %, p = 0.45, RR: 1.35 [95 % CI: 0.82-2.21]; I²=5 %, p = 0.24, and MD:6.5 [95 % CI:13.8 to 0.6]; I²=45 %, p = 0.07). The number of children showing improvement in cognition and changes in behavioral comorbidities were also comparable between the groups(p = 0.60 and 0.21). However, the MAD group had a higher incidence of adverse effects(RR: 1.37 [95 % CI: 1.12-1.68]; I²=42 %, p = 0.002), though the number of participants experiencing serious adverse effects was similar in both groups(RR: 1.68 [95 % CI: 0.71-3.99]; I²=0 %, p = 0.24). Adherence rates to the allocated intervention were numerically higher in the LGIT group(p = 0.73).</p><p><strong>Conclusion: </strong>Both MAD and LGIT are comparable in efficacy, but LGIT is associated with fewer adverse effects.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873313","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":"MRI in older patients-A focused review.","authors":"Stephan Seiler, Christian Enzinger","doi":"10.1016/j.seizure.2024.11.015","DOIUrl":"https://doi.org/10.1016/j.seizure.2024.11.015","url":null,"abstract":"<p><p>MRI has considerably increased our pathophysiological knowledge of age-related brain abnormalities. Brain abnormalities regularly seen on MRI of older adults are atrophy, and changes related to small vessel disease (SVD). SVD-related changes include white matter hyperintensities (WMH), lacunes, microbleeds, microinfarcts and perivascular spaces. While atrophy, WMH and lacunes are recognized as important contributors to cognitive decline and dementia, relationships are less clear for microbleeds, microinfarcts and perivascular spaces. Vascular risk factors are considered critical in the development of these changes and being potentially modifiable have become increasingly interesting to researchers and clinicians alike. Managing vascular risk early, particularly hypertension, is a key factor in slowing down the evolution of age-related brain abnormalities and decelerate their detrimental cognitive consequences. Cognition and visible brain abnormalities have a complex relationship, which reaches far beyond what we can understand using standard MRI. Remote effects of lesions and associated- as well as independent network changes likely explain much of the different cognitive trajectories observed with aging. Because of the versatility of MRI in the diagnostic of various diseases, including epilepsy, incident signs of brain aging will be encountered ever more frequently on standard MRI of older adults. To facilitate understanding and ultimately reporting these changes to patients, this review will give a brief overview of MRI findings encountered on MRI of older people. We will discuss their pathology, risk factors, and relationships with cognition. Special emphasis will be given to more recent developments, including remote effects of lesions, and effects on the structural brain network. Relationships between MRI findings in older people and epilepsy will be discussed as well.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808019","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":"Drug arrows in the quiver-antiseizure, antiepileptic and neuroprotective medication: Treatment and future aspects. A focused review.","authors":"Elinor Ben-Menachem","doi":"10.1016/j.seizure.2024.11.016","DOIUrl":"https://doi.org/10.1016/j.seizure.2024.11.016","url":null,"abstract":"<p><p>Drug discovery for the treatment of epilepsy is entering a new era especially with the advancement of genetic therapies as disease modifying, antiepileptogenic therapies. Even new ideas about re-purposed medication with purposed epileptogenic properties have been suggested. The possibilities are enormous, and it is encouraging that so many ideas are flourishing. The focus of this review is to discuss where to concentrate efforts to improve the lives of people with epilepsy (PWE) with medical treatment, especially the elderly who have many challenges besides just seizures. Thus, the arrow needs to be not only focused on DRE patients, but to try to redirect the arrow to prevent the development of seizures before onset as well as preventing refractoriness at the very beginning herald by the first seizures.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856490","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":"Diagnostic yields of genetic testing and related benefits in infantile epileptic spasms syndrome: A systematic review and meta-analysis","authors":"Xinyu Feng ,&nbsp;Jie Yang ,&nbsp;Ningning Chen ,&nbsp;Shaojun Li ,&nbsp;Tingsong Li","doi":"10.1016/j.seizure.2024.11.014","DOIUrl":"10.1016/j.seizure.2024.11.014","url":null,"abstract":"<div><h3>Background</h3><div>Diagnostic yields for infantile epileptic spasms syndrome (IESS) are notably heterogeneous across different testing modalities and studies. To investigate the proportion of individuals with IESS harboring causative/pathogenic genetic variants identified using whole-exome sequencing (WES), multi-gene panels (MGPs), and chromosomal microarray (CMA), thereby providing evidence to inform guidelines for genetic testing strategies.</div></div><div><h3>Methods</h3><div>The study team searched PubMed, Embase, and Cochrane Central Register of Controlled Trials between January 2012- October2023. Data were extracted and synthesized by two investigators following the preferred reporting items for systematic reviews and meta-analyses guideline. The primary outcome was the pooled diagnostic rate of individual WES, MGPs, and CMA across studies. Subgroup analyses were performed based on the inclusion of cases with tuberous sclerosis complex and the number of genes included on MGPs.</div></div><div><h3>Results</h3><div>Our study included 30 studies, involving 2 738 participants. The diagnostic rates in IESS for WES (13 studies, <em>n</em> = 799), MGPs (13 studies, <em>n</em> = 1 117), and CMA (13 studies, <em>n</em> = 629) were 26 % (95 % CI = 21 %–31 %), 20 % (95 % CI = 15 %–27 %), and 14 % (95 % CI = 11 %–16 %), respectively. WES and MGPs showed comparable diagnostic yields (<em>P</em> = 0.34). Our results indicated that 61.6 % of individuals with genetic IESS may potentially benefit from genetic diagnosis in terms of clinical management.</div></div><div><h3>Conclusions</h3><div>Our results showed that WES and MGPs exhibited comparable genetic diagnostic yields. Therefore, either method could be equally recommended as a first-tier testing approach for IESS cases with suspected genetic or unknown etiologies, especially considering the potential clinical benefits derived from genetic diagnosis.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 18-24"},"PeriodicalIF":2.7,"publicationDate":"2024-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142721246","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":"Clinical profiles and prognostic factors in reflex epilepsy: Insights from a Taiwanese cohort","authors":"Chih-Han Lin ,&nbsp;Mei-Yun Cheng ,&nbsp;Wei-En Johnny Tseng ,&nbsp;Chun-Wei Chang ,&nbsp;Chih-Hong Lee ,&nbsp;Tony Wu ,&nbsp;Hsing-I Chiang ,&nbsp;Ting-Wei Liao ,&nbsp;Wey-Ran Lin ,&nbsp;Chun-Jing Liu ,&nbsp;Po-Ru Chen ,&nbsp;Siew-Na Lim","doi":"10.1016/j.seizure.2024.11.013","DOIUrl":"10.1016/j.seizure.2024.11.013","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Purpose&lt;/h3&gt;&lt;div&gt;To investigate the clinical characteristics, treatment, and prognosis of patients with reflex epilepsies in Taiwan.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;div&gt;Patients with reflex epilepsies (RE) induced by specific trigger factors from July 2000 to May 2024, were recruited at Chang Gung Memorial Hospital, Linkou, Taiwan. All patients had at least 12 months of follow-up. Demographic data, antiseizure medication (ASM) treatment, stimulus avoidance, and seizure outcome were analyzed. We further divided the patients into extrinsic and intrinsic RE groups based on the nature of stimuli. We also categorized them into ongoing seizure and seizure-free groups based on their seizure control. Fisher's exact test and Independent-Samples Mann-Whitney U Test were used to evaluate associations between clinical factors and prognosis. Multivariate logistic regression analysis was further carried out to determine the predictors of seizure outcomes.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;In this study, 81 patients with reflex epilepsies (RE) were analyzed, focusing on those with extrinsic (photosensitive) and intrinsic (Mah-Jong-related) seizure triggers. Patients with extrinsic RE were significantly younger (mean age 40.4 years) than those with intrinsic RE (mean age 64.4 years, &lt;em&gt;p&lt;/em&gt; &lt; 0.001) and had a notably earlier onset of reflex seizures (21.9 years vs. 49.7 years, &lt;em&gt;p&lt;/em&gt; &lt; 0.001). A higher proportion of extrinsic RE patients experienced spontaneous seizures (98 %) compared to intrinsic RE (40 %). Abnormal EEG findings were more prevalent in the extrinsic group (94.1 %) than in the intrinsic group (66.7 %). Ninety-eight percent of patients with extrinsic RE were treated with antiseizure medications (ASMs), with an average of 2.2 ASMs per patient, compared to 73.3 % and 1.2 ASMs in patients with intrinsic RE. Furthermore, the rate of stimulus avoidance was significantly higher among those with intrinsic RE, at 43.3 % compared to 3.9 % in the extrinsic group (&lt;em&gt;p&lt;/em&gt; &lt; 0.001). Both groups achieved similar seizure-free outcomes (68.6 % in extrinsic vs. 63.3 % in intrinsic RE), but stimulus avoidance is independently associated with a reduced likelihood of ongoing seizures (&lt;em&gt;p&lt;/em&gt; = 0.038), with an odds ratio (OR) of 0.110.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusion&lt;/h3&gt;&lt;div&gt;Intrinsic RE exhibited a later onset of spontaneous and reflex seizures than extrinsic RE. Avoidance of seizure triggers was more frequent in intrinsic RE and among seizure-free patients, suggesting that stimulus avoidance is crucial for better seizure control and prognosis. On the other hand, patients with extrinsic RE had a lower rate of trigger avoidance but were more likely to receive ASM treatment, suggesting ASM is crucial for managing seizures due to challenges in avoiding environmental triggers. Despite these differences, both groups achieved similar seizure-free outcomes, underscoring the necessity for tailored management strategies based on the type ","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 39-47"},"PeriodicalIF":2.7,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142743178","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":"Case series; NUS1 deletions cause a progressive myoclonic epilepsy with ataxia","authors":"Raphaëlle Landais ,&nbsp;Jenna Strong ,&nbsp;Rhys H Thomas","doi":"10.1016/j.seizure.2024.11.012","DOIUrl":"10.1016/j.seizure.2024.11.012","url":null,"abstract":"<div><h3>Purpose</h3><div>Mutations in <em>NUS1</em> cause a neurological congenital glycosylation disorder which encompasses a spectrum from developmental encephalopathy to musculoskeletal, hearing, and visual abnormalities. Pathogenic variants include both point mutations and genomic deletions. We report an adult phenotype of progressive myoclonus epilepsy (PME) and a review of cases with a complete or partial deletion of <em>NUS1</em>.</div></div><div><h3>Methods</h3><div>Our patient, currently age 30, presented with an intellectual disability and developed progressive ataxia with myoclonic tremor, alongside generalised absence and tonic-clonic seizures. At age 28 he was diagnosed with a heterozygous 5.0 Mb deletion of 6q22.1q22.31 involving the <em>NUS1</em> gene. We are unable to state whether this is a de novo mutation; his mother tested negative for the gene, but his father passed away before any genetic analysis could be performed. Along with the 22 patients reported in published literature, we identified 21 other genetically similar <em>NUS1</em> deletion variants with sufficient clinical data through ClinVar.</div></div><div><h3>Results</h3><div>The identification of <em>NUS1</em> gene deletion disorder does not lead to a change in treatment but predicts a progressive clinical trajectory. Recognition of this helps differentiate neurological progression from the impact of anti-seizure medicine.</div></div><div><h3>Conclusion</h3><div>Copy number variants are an often-overlooked cause of PME. We also describe features of psychosis and spasticity and suggest that these may also be due to the <em>NUS1</em> deletion, expanding the literature that exists on the phenotype of this very rare genetic disorder.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 1-8"},"PeriodicalIF":2.7,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142721248","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":"Pregnancy planning in women with epilepsy: A single center observational study with focus on epilepsy type","authors":"Christian Samsonsen ,&nbsp;Urtė Karanauskaitė ,&nbsp;Emma J. Stenbacka ,&nbsp;Ester S. Hjelvik ,&nbsp;Lene Rektorli ,&nbsp;Eylert Brodtkorb","doi":"10.1016/j.seizure.2024.11.010","DOIUrl":"10.1016/j.seizure.2024.11.010","url":null,"abstract":"<div><h3>Purpose</h3><div>To explore various aspects of pregnancy planning in women with epilepsy and to identify factors needing particular attention in the counselling of these patients with focus on epilepsy type.</div></div><div><h3>Methods</h3><div>285 pregnancies in 192 women were collected from the EURAP registry in Trondheim, Norway. Medical records were reviewed to validate diagnoses and types of epilepsy according to revised ILAE classifications.</div></div><div><h3>Results</h3><div>Ten women proved to have non-epileptic conditions, leaving 274 pregnancies in 182 patients for inclusion. In 40 %, the epilepsy was focal, in 45 % generalized, including 18 % with JME. In 14 %, the epilepsy type was unknown. Pregnancies were planned in 64 %; 16 % were unintended and 20 % undetermined. Unintended pregnancies occurred in 15 % with focal and in 17 % with generalized epilepsy and in only 10 % of the JME subgroup. Planned pregnancy was associated with both preconception folic acid intake (<em>p</em> &lt; 0.001) and breastfeeding ≥6 months (<em>p</em> = 0.011). Epilepsy of unknown type had the lowest rates of intended pregnancy and folic acid use.</div></div><div><h3>Conclusion</h3><div>We found no difference in pregnancy planning between focal and generalized epilepsy. Intended pregnancy was strongly associated with both folic acid and breastfeeding. The JME subgroup did not perform worse but rather above average regarding family planning and breastfeeding. The lowest proportion of folic acid intake was found in epilepsy of unknown type in which seizure control is common, and patients may receive less attention from the specialist health service. Appropriate counselling regarding pregnancy should reach out to all fertile women regardless of epilepsy type and seizure control.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 152-158"},"PeriodicalIF":2.7,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142693793","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":"Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy","authors":"Omar Alomarı ,&nbsp;Ogun Bebek ,&nbsp;Ayberk Turkyilmaz ,&nbsp;Safiye Gunes Sager","doi":"10.1016/j.seizure.2024.11.009","DOIUrl":"10.1016/j.seizure.2024.11.009","url":null,"abstract":"<div><h3>Background</h3><div>HIDEA syndrome (MIM: #618493) is a rare autosomal recessive disorder characterized by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye anomalies. We present the case of a Turkish female with developmental and epileptic encephalopathy, highlighting a novel compound heterozygous variation in the <em>P4HTM</em> gene.</div></div><div><h3>Case Presentation</h3><div>A 6-year and 11-month-old girl with early infantile epileptic encephalopathy and abnormal eye movements since the neonatal period has been presented to our clinic. Despite severe developmental delays and a happy demeanor, she showed significant hypotonia and autistic behaviors. Genetic testing revealed a novel heterozygous splice-site variant (c.436+1G&gt;<em>T</em>) in intron 2 and a previously reported missense variant (c.934G&gt;<em>A</em>; p.E312 K) in exon 6 of the <em>P4HTM</em> gene. Imaging showed cortical atrophy and thin corpus callosum, but no dystonia was observed. The patient's phenotype aligns with most reported cases of HIDEA syndrome, yet developmental epileptic encephalopathy had not been documented previously in such patients, emphasizing the uniqueness of this case.</div></div><div><h3>Conclusion</h3><div>This case is the first to associate <em>P4HTM</em> gene variants with epileptic encephalopathy, expanding the phenotypic spectrum of HIDEA syndrome. It underscores the importance of genetic testing and reanalysis in undiagnosed developmental and epileptic encephalopathies. The novel genetic variations identified in this study underscore the necessity for continuous genetic exploration and personalized clinical management to improve outcomes for patients with this rare but impactful syndrome. Finally, the association between developmental epileptic encephalopathy, the patient's clinical presentation, and EEG findings suggests a compelling link to the P4HTM gene.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 35-38"},"PeriodicalIF":2.7,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142743179","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":"Seizure recurrence proportion under antiseizure medication in people living with epilepsy and prolonged seizure remission: A systematic review","authors":"Tae-Won Yang ,&nbsp;Young-Soo Kim ,&nbsp;Do-Hyung Kim ,&nbsp;Minjung Kim ,&nbsp;Minjun Kim ,&nbsp;Jung Sook Yeom ,&nbsp;Oh-Young Kwon","doi":"10.1016/j.seizure.2024.11.006","DOIUrl":"10.1016/j.seizure.2024.11.006","url":null,"abstract":"<div><h3>Background and purpose</h3><div>People living with epilepsy (PLWE) may wish to discontinue antiseizure medications (ASMs) after long-term remission. However, fear of relapse may lead to continued ASM use. Previous studies have focused on seizure relapse in PLWE who discontinued ASMs after long-term seizure remission (PLWE off ASM), with limited data on those who continued ASMs (PLWE on ASM).</div></div><div><h3>Methods</h3><div>We conducted a systematic review and meta-analysis of studies from five databases. We included studies with adult PLWE on ASM with long-term follow-up, using a common-effect model for analysis.</div></div><div><h3>Results</h3><div>Seven datasets from six studies were reviewed. Three of the six studies appeared to include some children and adolescents. Significant differences in seizure recurrence proportions (SRP) were found between PLWE whose seizures were controlled on one ASM (PLWE on one ASM) and those whose seizures were controlled on multiple ASMs (PLWE on multiple ASMs) over one to five years of follow-up. After two years, the SRP was 0.1416 for PLWE on one ASM and 0.2479 for PLWE on multiple ASMs. The relative risk (RR) of seizure recurrence for PLWE off ASM compared to PLWE on ASM was 1.9912 after two years, with the RR decreasing over time.</div></div><div><h3>Discussion</h3><div>Among PLWE on ASM, PLWE on one ASM have a lower chance of seizure recurrence than PLWE on multiple ASMs. PLWE off ASM have twice the risk of recurrence compared to PLWE on ASM after two years. This information aids PLWE in making informed decisions about ASM continuation or discontinuation.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 25-34"},"PeriodicalIF":2.7,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142743291","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}