Seizure-European Journal of Epilepsy最新文献

{"title":"Is lamotrigine a teratogen?","authors":"Frank JE Vajda ,&nbsp;Simon R L Vajda ,&nbsp;Mervyn J Eadie","doi":"10.1016/j.seizure.2025.01.019","DOIUrl":"10.1016/j.seizure.2025.01.019","url":null,"abstract":"<div><h3>Aim</h3><div>To assess whether lamotrigine (Lamictal), when used in antiseizure medication (ASM) monotherapy, is a teratogen.</div></div><div><h3>Materials/Methods</h3><div>Analysis of data from 490 LTG monotherapy treated pregnancies and 214 pregnancies in women with epilepsy not exposed to any antiseizure medications during at least the first half of pregnancy.</div></div><div><h3>Results</h3><div>The LTG-treated and the untreated pregnancies were well matched in nearly all regards apart from ASM exposure. There was a foetal malformation (FM) occurrence rate of 4.49 % in the LTG-exposed pregnancies and 3.27 % in the untreated pregnancies (Risk Ratio = 1.37; 95 % C.I. 0.60, 3.16). Logistic regression produced no evidence that the extent of the LTG-associated malformation occurrence hazard was LTG dose related. However, the malformation-affected body regions tended to differ between the LTG-treated and untreated pregnancies.</div></div><div><h3>Conclusion</h3><div>The above findings do not reach a statistically significant level (<em>P</em> &lt; 0.05) but, taken overall, they do not necessarily exclude the possibility that LTG may be a weak teratogen. If LTG monotherapy-associated foetal malformation occurrence rates are used as the comparator against which to evaluate the foetal malformation hazards associated with other ASMs, the findings may possibly be open to the risk of falsely reassuring outcomes<strong>.</strong></div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"126 ","pages":"Pages 1-5"},"PeriodicalIF":2.7,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143041396","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":"Radiofrequency-thermocoagulation in pediatric epilepsy surgery: A systematic review and pooled analysis of cases","authors":"Juan S. Bottan ,&nbsp;Fuad Almalki ,&nbsp;Maryam Nabavi Nouri ,&nbsp;Jonathan C. Lau ,&nbsp;Alla Iansavichene ,&nbsp;Greydon Gilmore ,&nbsp;Michael Miller ,&nbsp;Sandrine de Ribaupierre ,&nbsp;Andrea V. Andrade","doi":"10.1016/j.seizure.2025.01.012","DOIUrl":"10.1016/j.seizure.2025.01.012","url":null,"abstract":"<div><h3>Objective</h3><div>To conduct a systematic review on radiofrequency thermocoagulation (RF-TC) in pediatric epilepsy surgery. In addition, due to the low number of dedicated pediatric series, to conduct a pooled analysis of cases published in the literature.</div></div><div><h3>Methods</h3><div>We conducted a literature search using PUBMED and EMBASE which produced 432 results. We excluded studies on hypothalamic hamartomas and non-RF-TC procedures such as stereotactic radiosurgery and laser interstitial thermal ablation. Stereotactic RF-TC and SEEG-guided RF-TC procedures were included. Case series and case reports with individualized data were further reviewed and pediatric cases were extracted for pooled analysis. Patient demographics, electroclinical and neuroimaging data, procedure outcomes, responder rates and complications were collected. Our unpublished experience in pediatric SEEG-guided RF-TC was included in the pooled analysis.</div></div><div><h3>Results</h3><div>We identified 33 articles for the literature review, 24 of them were selected for pooled analysis (93 cases). Sixty patients underwent SEEG-guided RF-TC. For adult and pediatric mixed series reported a 67% responder rate and 32% seizure freedom at 1 year. For exclusively pediatric series, 90% responder rate and 71% Seizure freedom. In the pooled analysis, seizure freedom was achieved in 45.2% and responder rate was 74.2% with a mean follow-up was 25.2 months (SD ± 26.6). Complication rates were low, transient neurological deficits were reported in 18 cases (19.4%) and no deaths were associated with RF-TC. The insula and the dominant frontal lobe were the most frequent targets for ablation. Studies included were highly heterogenous and quality of evidence was low.</div></div><div><h3>Significance</h3><div>There are few pediatric studies evaluating RF-TC. Safety and efficacy in children seem to be similar to that reported in larger adult series, although more studies are needed. Most cases reviewed where extracted from heterogeneous adult and pediatric series. Patients with small, high-risk surgical targets are ideal candidates for this procedure.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"126 ","pages":"Pages 6-13"},"PeriodicalIF":2.7,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061276","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 of epilepsy in pediatric patients with febrile seizures: Insights from nationwide registry data in Korea","authors":"Eu Gene Park ,&nbsp;Il Han Yoo","doi":"10.1016/j.seizure.2025.01.006","DOIUrl":"10.1016/j.seizure.2025.01.006","url":null,"abstract":"<div><h3>Purpose</h3><div>The incidence of epilepsy following febrile seizures (FS) is estimated at 2 %–7 %. Early identification of children at risk of epilepsy could have clinical implications, as these children may require special attention. This study investigated epilepsy incidence in children with FS and identified risk factors that increase the likelihood of developing epilepsy in Korea.</div></div><div><h3>Methods</h3><div>This nationwide, population-based study used data from the Korean Health Insurance Review and Assessment Service database. Patients aged 6 months to &lt;6 years at their first visit between January 2010 and June 2013 with primary, secondary, or additional FS diagnostic codes were selected. Patient demographics, diagnostic codes, and prescriptions were retrieved from the database.</div></div><div><h3>Results</h3><div>A total of 130,248 patients diagnosed with FS were identified. During a median follow-up period of 11.8 years (interquartile range, 11.0–12.8), 3,047 patients (2.3 %) were subsequently diagnosed with epilepsy, while 127,201 patients (97.7 %) did not develop epilepsy. A higher number of FS episodes (2 episodes, odds ratio (OR) 1.61; 3 episodes, OR 2.17; 4 episodes, OR 2.40; 5+ episodes, OR 4.85) and prolonged FS (OR 25.82) were associated with increased epilepsy risk (<em>p</em> &lt; 0.05). Epilepsy was most common during toddler and preschool years (2,049/3,047, 67.2 %), while it was relatively low during adolescence (141/3,047, 4.6 %).</div></div><div><h3>Conclusion</h3><div>Recognizing the risk factors and age distribution of epilepsy onset can assist clinicians in identifying children at high risk early, facilitating targeted monitoring and timely intervention. This approach may ultimately reduce unnecessary investigations and optimize follow-up for children with FS.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"127 ","pages":"Pages 29-35"},"PeriodicalIF":2.7,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143551704","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":"Network-based biomarkers in background electroencephalography in childhood epilepsies—A scoping review and narrative synthesis","authors":"Kay Meiklejohn ,&nbsp;Leandro Junges ,&nbsp;John R. Terry ,&nbsp;Alison Whight ,&nbsp;Rohit Shankar ,&nbsp;Wessel Woldman","doi":"10.1016/j.seizure.2024.11.011","DOIUrl":"10.1016/j.seizure.2024.11.011","url":null,"abstract":"<div><h3>Background</h3><div>Brain network analysis is an emerging field of research that could lead to the development, testing and validation of novel biomarkers for epilepsy. This could shorten the diagnostic uncertainty period, improve treatment, decrease seizure risk and lead to better management. This scoping review summarises the current state of electroencephalogram (EEG)-based network abnormalities for childhood epilepsies. The review assesses the overall robustness, potential generalisability, strengths, and limitations of the methodological frameworks of the identified research studies.</div></div><div><h3>Reporting Methods</h3><div>PRISMA guidelines for Scoping Reviews and the PICO framework was used to guide this review. Studies that evaluated candidate network-based features from EEG in children were retrieved from four international indexing databases (Cochrane Central / Embase / MEDLINE/ PsycINFO). Each selected study design, intervention characteristics, methodological design, potential limitations, and key findings were analysed.</div></div><div><h3>Results</h3><div>Of 2,959 studies retrieved, nine were included. Studies used a group-level based comparison (e.g. based on a statistical test) or a classification-based method (e.g. based on a statistical model, such as a decision tree). A common limitation was the small sample-sizes (limiting further subgroup or confounder analysis) and the overall heterogeneity in epilepsy syndromes and age groups.</div></div><div><h3>Conclusion</h3><div>The heterogeneity of included studies (e.g. study design, statistical framework, outcome metrics) highlights the need for future studies to adhere to standardised frameworks (e.g. STARD) in order to develop standardised and robust methodologies. This would enable rigorous comparisons between studies, which is critical in assessing the potential of network-based approaches in developing novel biomarkers for childhood epilepsies.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 89-106"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014965","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":"Does treatment in an epilepsy clinic affect epilepsy-related admissions?","authors":"Revital Gandelman-Marton ,&nbsp;Jacques Theitler","doi":"10.1016/j.seizure.2024.12.006","DOIUrl":"10.1016/j.seizure.2024.12.006","url":null,"abstract":"<div><h3>Background</h3><div>Epilepsy-related emergency hospitalizations are associated with risks to patients. Neurologist ambulatory care can improve seizure control and decrease the rates of ED visits and emergency hospitalizations.</div></div><div><h3>Aims</h3><div>To evaluate the etiologies for emergency epilepsy-related admissions in patients with and without prior epilepsy clinic follow-up, and to identify possible factors that may influence admission rates.</div></div><div><h3>Methods</h3><div>A retrospective review of the computerized database and the medical records of all the people with epilepsy who presented to our outpatient epilepsy clinic following an epilepsy-related admission during a 10-year period (2012 - 2021).</div></div><div><h3>Results</h3><div>The study group included 134 patients with epilepsy aged 18- 85 years who presented to our outpatient epilepsy clinic following an epilepsy-related admission. Patients with pre-admission follow up in the epilepsy clinic (<em>n</em> = 67) were less likely to have epilepsy-related admissions during subsequent post-admission follow-up (<em>p</em> = 0.024), had fewer prior admissions related to antiseizure medication (ASM) discontinuation, ASM nonadherence or sub-therapeutic ASM serum levels (<em>p</em> = 0.038), were more likely to continue epilepsy clinic follow-up (<em>p</em> = 0.036), and received more ASMs before admission (<em>p</em> = 0.0001), at the first post-admission visit (<em>p</em> = 0.0001) and at last follow-up (<em>p</em> = 0.015).</div></div><div><h3>Conclusions</h3><div>Epilepsy clinic follow-up may affect the rate of epilepsy and ASM related admissions. Further studies are needed to evaluate the effects of ASM polytherapy and possibly higher doses of ASMs on the rates of epilepsy-related admissions.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 71-74"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824694","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":"Evidence of small vessel disease in patients with juvenile myoclonic epilepsy based on the peak width of skeletonized mean diffusivity","authors":"Dong Ah Lee ,&nbsp;Ho-Joon Lee ,&nbsp;Kang Min Park","doi":"10.1016/j.seizure.2024.12.003","DOIUrl":"10.1016/j.seizure.2024.12.003","url":null,"abstract":"<div><h3>Objectives</h3><div>Peak width of skeletonized mean diffusivity (PSMD) is a novel marker of white matter changes probably due to small vessel disease. This study aimed to investigate the presence of white matter changes in juvenile myoclonic epilepsy (JME) using PSMD.</div></div><div><h3>Methods</h3><div>We enrolled patients with JME and age- and sex-matched healthy controls. We performed diffusion tensor imaging (DTI) using a three tesla magnetic resonance imaging scanner. We measured the PSMD based on DTI in several steps, including preprocessing, skeletonization, application of a custom mask, and histogram analysis, using the FSL program. We compared the PSMD between patients with JME and healthy controls and the PSMD according to the antiseizure medication (ASM) response among the patients with JME. We also performed a correlation analysis between the PSMD and clinical factors in patients with JME.</div></div><div><h3>Results</h3><div>We enrolled the 42 patients with newly diagnosed JME and 42 healthy controls. There was a significant difference in the PSMD between patients with JME and healthy controls. PSMD was higher in patients with JME than in healthy controls (2.234 vs. 2.085 × 10^–4 mm²/s, <em>p</em> = 0.013). In addition, the PSMD was higher in patients with JME who were ASM poor responders than in those who were ASM good responders (2.586 vs. 2.176 × 10^–4 mm²/s, <em>p</em> = 0.007). The PSMD was positively correlated with age (<em>r</em> = 0.364, <em>p</em> = 0.017).</div></div><div><h3>Conclusion</h3><div>Patients with JME have a higher PSMD than healthy controls, indicating evidence of white matter changes in patients with JME. In addition, white matter changes are related to the ASM response in patients with JME. This finding also highlights the potential of PSMD as a marker for detecting white matter changes probably due to small vessel disease in patients with epilepsy, which would require further studies.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 75-79"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830565","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":"Hippocampal deep brain stimulation for drug-resistant epilepsy: Insights from bilateral temporal lobe and posterior epilepsy cases","authors":"Seung Ho Choo ,&nbsp;Hea Ree Park ,&nbsp;Seunghoon Lee ,&nbsp;Jung-Il Lee ,&nbsp;Eun Yeon Joo ,&nbsp;Dae-Won Seo ,&nbsp;Seung Bong Hong ,&nbsp;Young-Min Shon","doi":"10.1016/j.seizure.2024.11.018","DOIUrl":"10.1016/j.seizure.2024.11.018","url":null,"abstract":"<div><h3>Purpose</h3><div>This study evaluates the long-term efficacy of hippocampal deep brain stimulation (Hip-DBS) in patients with drug-resistant epilepsy (DRE), specifically focusing on bilateral temporal lobe epilepsy (BTLE) and posterior epilepsy (PE).</div></div><div><h3>Methods</h3><div>A retrospective analysis was conducted on 15 DRE patients (11 BTLE, 4 PE) who underwent bilateral Hip-DBS at Samsung Medical Center over an eight-year period. Medical records, seizure diaries, and neuropsychological assessments were reviewed. The surgical and follow-up protocols were adapted from our previous clinical research.</div></div><div><h3>Results</h3><div>The median seizure reduction rate was 77.8 % for disabling seizures (DS) and 47.9 % for non-disabling seizures (NDS). Subgroup analysis revealed a 77.8 % reduction in DS for BTLE patients and 68.8 % for PE patients. The overall responder rate was 86.7 % for DS and 50 % for NDS. Neuropsychological evaluations showed stable cognitive functions post-treatment, with a non-significant trend towards improvement in non-verbal and visuo-spatial cognitive domains.</div></div><div><h3>Conclusion</h3><div>This study provides preliminary evidence supporting the efficacy of Hip-DBS in reducing seizure frequency in both BTLE and PE patients, with a more pronounced effect on disabling seizures. The potential cognitive preservation and possible enhancement in specific domains warrant further investigation. Despite limitations such as the retrospective design and reliance on self-reported seizure frequencies, these findings encourage further exploration of Hip-DBS as a treatment modality for DRE, particularly in cases where resective surgery is contraindicated.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 57-65"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814778","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":"Effects of anti-seizure medications on resting-state functional networks in juvenile myoclonic epilepsy: An EEG microstate analysis","authors":"Ying Li ,&nbsp;Yibo Zhao ,&nbsp;Yanan Chen ,&nbsp;Mingxian Meng ,&nbsp;Zhe Ren ,&nbsp;Zongya Zhao ,&nbsp;Na Wang ,&nbsp;Ting Zhao ,&nbsp;Beijia Cui ,&nbsp;Mingmin Li ,&nbsp;Jin Liu ,&nbsp;Qi Wang ,&nbsp;Jiuyan Han ,&nbsp;Bin Wang ,&nbsp;Xiong Han","doi":"10.1016/j.seizure.2024.12.004","DOIUrl":"10.1016/j.seizure.2024.12.004","url":null,"abstract":"<div><h3>Objective</h3><div>Juvenile myoclonic epilepsy (JME) is associated with large-scale brain network dysfunction. This study aims to investigate how anti-seizure medication (ASM) treatment alters resting-state functional networks in JME patients through resting-state EEG microstate analysis.</div></div><div><h3>Methods</h3><div>Ninety-six subjects participated in this study: 24 healthy controls (HC), 29 newly diagnosed JME patients who had not started ASMs therapy (JME-NM), and 43 JME patients on ASMs treatment with effective seizure control (JME-M). EEG data were collected for 10 min while participants were awake and resting with their eyes closed, using a standard 19-channel recording system. EEG topographies were categorized into four microstate classes (A, B, C, D), and parameters such as mean duration, occurrence rate, time coverage, and transition probabilities between microstates were computed and compared among the three groups. Advanced statistical methods were employed to ensure the robustness and validity of the findings.</div></div><div><h3>Results</h3><div>Significant alterations in EEG microstate characteristics were observed in untreated JME patients (JME-NM) compared to both healthy controls and treated patients. Microstate B had a markedly reduced mean duration in the JME-NM group, while microstate A displayed an increased occurrence rate and greater time coverage. Transition probabilities between specific microstates, such as from A to C, A to D, and B to C, were also significantly different in the JME-NM group. The normalization of these parameters in the JME-M group suggests that ASMs effectively stabilize altered brain networks, potentially mitigating the pathophysiological disruptions associated with JME.</div></div><div><h3>Conclusion</h3><div>This study demonstrates that ASMs effectively normalize disruptions in sensory-motor and visual networks in JME patients. EEG microstate analysis provides a dynamic view of brain network alterations and offers potential as a biomarker for the diagnosis and monitoring of JME, as well as for evaluating treatment response. These findings advance our understanding of the neurophysiological mechanisms underlying JME.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 48-56"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796479","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":"Ramadan fasting in adolescents with epilepsy: Seizure control and behavioral outcome","authors":"Rehab Magdy ,&nbsp;Nirmeen Kishk ,&nbsp;Salsabil Abo Al-Azayem ,&nbsp;Mona Hussein ,&nbsp;Imane A. Yassine ,&nbsp;Mennat-Allah Tarek ,&nbsp;Eman Hany Elsebaie ,&nbsp;Mohamed A. Abdeltwab ,&nbsp;Alshimaa S. Othman","doi":"10.1016/j.seizure.2024.12.007","DOIUrl":"10.1016/j.seizure.2024.12.007","url":null,"abstract":"<div><h3>Objectives</h3><div>Data about the effect of Ramadan fasting on seizure control among adolescents with epilepsy (AWE) is scarce. Several psycho-behavioral problems have also been encountered in this teenage group. This study aimed to assess seizure frequency and behavioral outcomes after Ramadan fasting in a sample of AWE</div></div><div><h3>Methods</h3><div>In this prospective study, AWE who completed fasting during Ramadan 2024 were evaluated regarding the seizure frequency of each type during Shaban (the month immediately preceding Ramadan) and Ramadan. Three questionnaires were requested to be answered at the end of two months. They were Patient Health Questionnaire (PHQ-9), Modified Overt Aggression Scale (MOAS), and Barratt Impulsiveness Scale–Short Form (BIS-11-SF) for assessment of depression, aggression, and impulsivity, respectively</div></div><div><h3>Results</h3><div>One hundred twenty AWE, with a median age of 15 and IQR 13–17, were evaluated. There was a statistically significant reduction in seizure frequency regarding focal onset seizures during Ramadan compared to Shaaban (P 0.009), as well as generalized non-motor (absence) seizures (P 0.027). The MOAS-total scores significantly reduced during Ramadan than Shaaban (P 0.003), as well as the scores of non-planning impulsivity of BIS-11-SF (P 0.005). On the other hand, depression assessed by PHQ-9 did not significantly differ between the two months</div></div><div><h3>Conclusion</h3><div>Fasting Ramadan is associated with better control of multiple seizure types, including focal and generalized-onset non-motor (absence) seizures, besides psycho-behavioral aspects of aggression &amp; non-planning impulsivity, without worsening of other seizure types nor depression, among AWE.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 85-88"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928246","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-refractory epilepsy due to a novel CLN5 mutation: A report of three patients from an Indian family","authors":"Shiny Joy ,&nbsp;Ayush Agarwal ,&nbsp;Jupita Handique ,&nbsp;Mahino Fatima ,&nbsp;Divyani Garg ,&nbsp;Pooja Sharma ,&nbsp;Roopa Rajan ,&nbsp;Ajay Garg ,&nbsp;Mohd Faruq ,&nbsp;Achal K. Srivastava","doi":"10.1016/j.seizure.2024.11.017","DOIUrl":"10.1016/j.seizure.2024.11.017","url":null,"abstract":"<div><h3>Introduction</h3><div>Neuronal Ceroid Lipofuscinosis (NCL) are a group of lysosomal storage disorders characterised by progressive neurodegeneration caused by an accumulation of ceroid lipopigment in lysosomes of neurons and other cell types. Adult-onset NCL (Kufs disease) differs from childhood forms by its later onset and preserved vision. Type A (Kufs A) presents as progressive myoclonus epilepsy (PME), while Type B (Kufs B) manifests as dementia with motor involvement. Both subtypes have distinct causative genes.</div></div><div><h3>Methods</h3><div>We have described 3 siblings with genetically confirmed novel pathogenic <em>CLN5</em> subtype who presented with developmental regression, drug-refractory myoclonic epilepsy, and dementia (Kufs A).</div></div><div><h3>Results</h3><div>We have presented 3 siblings with adult onset NCL with Kufs A (not Kufs B) phenotype, which has been rarely documented.</div></div><div><h3>Conclusion</h3><div>Genotypic-phenotypic variations are increasingly being reported for NCL. We have described three patients from a family with <em>CLN5</em> subtype who had prominent drug refractory myoclonic epilepsy, which is extremely rare.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 66-70"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142819763","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}