Epilepsy and Behavior Reports最新文献_第2页

Ictal eructation in a case of idiopathic generalized epilepsy 特发性全身性癫痫的急性发作

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2025-08-09 DOI: 10.1016/j.ebr.2025.100820

Amirtha Shekar , Sreekanth Koneru , Charles Ákos Szabó

{"title":"Ictal eructation in a case of idiopathic generalized epilepsy","authors":"Amirtha Shekar , Sreekanth Koneru , Charles Ákos Szabó","doi":"10.1016/j.ebr.2025.100820","DOIUrl":"10.1016/j.ebr.2025.100820","url":null,"abstract":"<div><div>We present a 57 year-old right-handed female with a history of idiopathic generalized epilepsy since age two years old as well as mild-to-moderate intellectual impairment and behavioral dyscontrol. She was seizure free for many years on ethosuximide, but her absence seizures recurred as her dose was gradually decreased. After raising her dose, she also began to experience falls, at times with decreased responsiveness. She was admitted for inpatient video-EEG monitoring for quantification of her absence seizures and characterization of her falls. Our patient had 3–6 absence seizures per hour. In addition to a brief alteration of awareness, her absence seizures were frequently associated with belching and eyelid myoclonia lasting for 3–4 s. Her belching was correlated with a generalized ictal discharge and was not noted interictally. Several episodes of unsteadiness were noted, at times the patient falling backwards into her bed, but never falling to the ground from a standing position; none of these episodes associated with ictal EEG correlate. In summary, our patient demonstrated and absence seizures with ictal eructation or belching, which has not been reported as an ictal symptom of generalized seizures, and episodes of unsteadiness of unknown characterization.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100820"},"PeriodicalIF":1.5,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144829486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Upward eye deviation as a precursor to epileptic spasms: A case successfully treated with early corpus callosotomy without adrenocorticotropic hormone therapy 上斜视是癫痫性痉挛的先兆：早期胼胝体切开术成功治疗1例，未使用促肾上腺皮质激素治疗

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2025-08-07 DOI: 10.1016/j.ebr.2025.100818

Yasushi Iimura , Hiroharu Suzuki , Takumi Mitsuhashi , Tetsuya Ueda , Kazuki Nishioka , Kazuki Nomura , Shimpei Abe , Takato Akiba , Shimpei Matsuda , Hidenori Sugano , Akihide Kondo

{"title":"Upward eye deviation as a precursor to epileptic spasms: A case successfully treated with early corpus callosotomy without adrenocorticotropic hormone therapy","authors":"Yasushi Iimura , Hiroharu Suzuki , Takumi Mitsuhashi , Tetsuya Ueda , Kazuki Nishioka , Kazuki Nomura , Shimpei Abe , Takato Akiba , Shimpei Matsuda , Hidenori Sugano , Akihide Kondo","doi":"10.1016/j.ebr.2025.100818","DOIUrl":"10.1016/j.ebr.2025.100818","url":null,"abstract":"<div><div>Infantile epileptic spasms syndrome is characterized by epileptic spasms (ES), neurodevelopmental regression, and variable electroclinical features. Early recognition and prompt treatment are crucial for improving outcomes; however, subtle ictal manifestations are often overlooked by caregivers. We describe a male infant who exhibited repeated upward eye deviation beginning at 5 months of age, preceding the onset of typical ES. Prolonged scalp video electroencephalography (EEG) monitoring captured both isolated upward eye deviation and typical ES preceded by upward eye deviation. Despite the introduction of two antiseizure medications, ES persisted. Given the absence of lateralizing findings on neuroimaging and the presence of bilaterally synchronous ictal discharges on EEG, corpus callosotomy (CC) was performed at 7 months of age without prior adrenocorticotropic hormone (ACTH) therapy, in accordance with parental preference. The patient has remained seizure free for 1 year and 3 months postoperatively, with age-appropriate neurodevelopmental scores on the Vineland Adaptive Behavior Scales, Second Edition. This case highlights the importance of identifying subtle signs, such as upward eye deviation, as potential early ictal precursors in ES. CC may represent a viable first-line treatment in selected cases.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"32 ","pages":"Article 100818"},"PeriodicalIF":1.5,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144810213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dissolution and stability of vigabatrin powder in water, fruit juice, milk, and infant formula 维加巴特林粉在水、果汁、牛奶和婴儿配方奶粉中的溶出度和稳定性

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2025-08-05 DOI: 10.1016/j.ebr.2025.100816

Michelle Zachman , Lixin Gong , Lingling An , Mark B. Halvorsen

{"title":"Dissolution and stability of vigabatrin powder in water, fruit juice, milk, and infant formula","authors":"Michelle Zachman , Lixin Gong , Lingling An , Mark B. Halvorsen","doi":"10.1016/j.ebr.2025.100816","DOIUrl":"10.1016/j.ebr.2025.100816","url":null,"abstract":"<div><div>The prescribing information for the antiseizure medication Vigadrone® (vigabatrin) Powder for Oral Solution advises only reconstituting the powder in water prior to administration and discarding unused solution. However, caregivers may seek to reconstitute vigabatrin in a pediatric patient’s preferred liquid rather than water to ease administration. We performed an in-use dissolution and stability study of vigabatrin powder reconstituted in 4 liquids—water, apple juice, whole milk, and infant formula—with testing performed 0, 24, and 48 h after preparation with storage at 2–8 °C in a capped, glass container. Vigabatrin reconstituted in each liquid was clear and free of visible particulates compared with matched drug-free liquid controls. In subsequent analyses using US Pharmacopeia (USP) procedures, high-performance liquid chromatography spectra and chromatograms for each sample solution matched the vigabatrin reference standard. At all time points, all sample solutions met USP-acceptance criteria of 95.0–105.0 % for product stability and USP-acceptance criteria for related substances/organic impurities testing for total impurities. Together, these results indicate that vigabatrin powder reconstituted in liquids other than water was stable for up to 48 h of refrigeration. This study provides useful information to help healthcare providers address real-world medication questions from caregivers.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100816"},"PeriodicalIF":1.5,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144829487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dietary niacin intake and epilepsy: a cross-sectional study 膳食烟酸摄入与癫痫：一项横断面研究

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2025-08-05 DOI: 10.1016/j.ebr.2025.100814

Ken Ling, Xinghui He, Zhiquan Yang

引用次数: 0

Implementation of a digital health tool for seizure video transfer in a pediatric epilepsy center: A prospective pilot study 在儿童癫痫中心实施用于癫痫视频传输的数字健康工具：一项前瞻性试点研究

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2025-07-30 DOI: 10.1016/j.ebr.2025.100811

Rahel M. Burger , Gadi Miron , Pascal Fenske , Cornelia Potratz , Angela M. Kaindl , Christian Meisel

{"title":"Implementation of a digital health tool for seizure video transfer in a pediatric epilepsy center: A prospective pilot study","authors":"Rahel M. Burger , Gadi Miron , Pascal Fenske , Cornelia Potratz , Angela M. Kaindl , Christian Meisel","doi":"10.1016/j.ebr.2025.100811","DOIUrl":"10.1016/j.ebr.2025.100811","url":null,"abstract":"<div><div>Home videos are increasingly presented in clinical practice, and secure digital tools for clinical video sharing are urgently needed. This study evaluated the feasibility of a secure video-sharing digital platform in pediatric epilepsy diagnostics. We conducted a prospective pilot study that included 60 children (median age 5.5 years) with suspected seizures and their caregivers at a tertiary pediatric center. Participants were invited to submit videos of suspected events through a secure smartphone application. Videos were reviewed by an epileptologist and in parallel participants underwent standard diagnostic evaluation. Outcome measures included video quality, concordance of video assessment with diagnostic workup, and user evaluation questionnaires. Of recruited participants, 16 (26.7 %) used the app to submit 81 videos (median 5.1 videos per patient), with 94 % (76/81 videos) having sufficient quality for meaningful clinical review. Among these participants, 11 (68.8 %) had confirmed epilepsy as their final diagnosis, while 5 (31.2 %) did not. Expert review classified 48.1 % of videos as likely epileptic events, with generalized tonic-clonic seizures being most common (24.7 %). Concordance between submitted videos and final clinical diagnosis was demonstrated in 68.8 % of cases, with higher concordance significantly related to the number of videos submitted (mean 6.4 vs. 2.2 videos per patient, p = 0.04). User evaluation showed favorable ratings for app usability (mean score 5.4/7). This study demonstrates the feasibility of secure digital video transfer in pediatric epilepsy diagnostics, emphasizing the importance of multiple video submissions for accurate diagnosis. Future implementation should address barriers to wider adoption and investigate clinical impact.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100811"},"PeriodicalIF":1.5,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144748990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Temporopolar epilepsy stereoEEG: implant technique and outcomes 颞极癫痫立体脑电图：植入技术和结果

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2025-07-29 DOI: 10.1016/j.ebr.2025.100813

Maya A. Jayaram , Andrew I. Yang , Ashley L.B. Raghu , Peter A. Rozman , Denise F. Chen , Jon T. Willie , Ammar Kheder , Robert E. Gross

{"title":"Temporopolar epilepsy stereoEEG: implant technique and outcomes","authors":"Maya A. Jayaram , Andrew I. Yang , Ashley L.B. Raghu , Peter A. Rozman , Denise F. Chen , Jon T. Willie , Ammar Kheder , Robert E. Gross","doi":"10.1016/j.ebr.2025.100813","DOIUrl":"10.1016/j.ebr.2025.100813","url":null,"abstract":"<div><div>The temporal pole (TP) is an under-investigated region in temporal lobe epilepsy, often overlooked during stereoEEG (sEEG) due to the lack of characteristic Phase 1 findings and technical limitations in implanting using traditional orthogonal trajectories. We retrospectively reviewed consecutive patients with TP-onset seizures confirmed on sEEG. Two non-orthogonal trajectories were utilized targeting the inferior (iTP) and superior (sTP) aspects of TP. TP was implanted in 43 hemispheres of 30 patients, in whom seizure onset in TP was identified in 32 hemispheres. Seizure foci were spatially limited to TP in 50 % of cases, whereas the remainder involved broader regions, most commonly mesial temporal structures (88 %). In a subset of cases (22 %), TP seizures emerged from either the sTP or iTP, in contrast to those emerging more diffusely across both sub-regions. Encephaloceles were found in 43 % of patients and were associated with ipsilateral TP-onset seizures in 93 % of those cases. In a heterogeneous cohort who underwent surgical intervention, 50 % achieved Engel class I outcomes at 2 years. Our series illustrates the considerable variability in the seizure onset zone across patients with TP epilepsy, both within TP as well as in its involvement of neighboring regions. Inclusion of TP during invasive monitoring can inform subsequent surgical interventions.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100813"},"PeriodicalIF":1.5,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144772986","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mapping change in self narrative after prolonged exposure therapy: An exploration in recovery from functional dissociative seizures 长期暴露治疗后自我叙述的映射改变：功能性分离性癫痫恢复的探索

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2025-07-28 DOI: 10.1016/j.ebr.2025.100812

Jon D. Perkins , Sam Meekings

{"title":"Mapping change in self narrative after prolonged exposure therapy: An exploration in recovery from functional dissociative seizures","authors":"Jon D. Perkins , Sam Meekings","doi":"10.1016/j.ebr.2025.100812","DOIUrl":"10.1016/j.ebr.2025.100812","url":null,"abstract":"<div><div>This study explored self-narrative transformations in a participant with functional dissociative seizures (FDS) following prolonged exposure therapy. The study aimed to establish emergent themes that indicated psychological challenges and the subsequent psychological shifts that accompany FDS resolution. Two interviews were held one month apart. An open-ended questionnaire was employed in the first interview, followed by a structured questionnaire based on previous findings in the second. Thematic analysis was used to explore the narrative of the transcribed interviews and extract themes. Themes constituted four or more references to the same topic during the interviews. Six main themes were identified. These were, in order of the most prevalent, Emotional and Cognitive Insights (29 %), Understanding and Negotiating Fear (24 %), Detachment and Attachment (21 %), Self-Management and Resolution (18 %), Physiological Insights (13 %) and Shifting Relationships and Social Interactions (11 %). Narratology reveals key features of an individual’s story and offers insight into their psychological experience. In FDS patients, where psychological disturbance may be a causal factor for symptoms, the formation of a coherent self-narrative can be mapped from pathology through to symptom resolution. In doing so, this process identifies important possible narrative markers underlying the psychological processes involved in FDS.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100812"},"PeriodicalIF":1.5,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144828133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prospective assessment of depression and suicidality in patients with epilepsy having baseline NDDI-E Scores > 13: Associations with seizure frequency and psychiatric treatment 基线NDDI-E评分bbbb13的癫痫患者抑郁和自杀的前瞻性评估：与癫痫发作频率和精神治疗的关系

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2025-07-24 DOI: 10.1016/j.ebr.2025.100810

Satoshi Saito , Go Taniguchi , Hideo Kato , Chihiro Nakata , Izumi Kuramochi

{"title":"Prospective assessment of depression and suicidality in patients with epilepsy having baseline NDDI-E Scores > 13: Associations with seizure frequency and psychiatric treatment","authors":"Satoshi Saito , Go Taniguchi , Hideo Kato , Chihiro Nakata , Izumi Kuramochi","doi":"10.1016/j.ebr.2025.100810","DOIUrl":"10.1016/j.ebr.2025.100810","url":null,"abstract":"<div><div>The Neurological Disorders Depression Inventory for Epilepsy (NDDI-E) is commonly used to screen for major depressive disorder (MDD) in patients with epilepsy, yet little is known about longitudinal changes in NDDI-E scores in relation to seizure control and psychiatric care. This study evaluated temporal changes in NDDI-E total and Item 4 scores (ΔNDDI-E, ΔItem 4) over ≥6 months in 34 adults (≥18 years) with baseline NDDI-E scores >13. Patients were seen in a specialized outpatient psychiatry clinic within an epilepsy center. Data included Clinical Global Impression–Improvement (CGI-I) ratings by psychiatrists specialized in epilepsy care, seizure frequency, DSM-5-based psychiatric diagnoses, and treatment interventions (e.g., medication adjustments, psychotherapy, and psychosocial support). Patients also completed a self-report questionnaire. No significant difference in MDD diagnoses was found between those with baseline NDDI-E scores of 14–16 and ≥17 (6.7 % vs. 21.1 %, p = 0.36). Comorbidities included autism spectrum disorder, dissociative disorder, and other mental health conditions. Changes in seizure frequency did not correlate with ΔNDDI-E or CGI-I scores, while ΔNDDI-E and ΔItem 4 showed moderate correlations with CGI-I (<em>ρ</em> = 0.51 and 0.56). All patients with improved Item 4 scores had better CGI-I ratings (p < 0.001). Qualitative analysis indicated that emotional fluctuations and psychosocial stressors influenced NDDI-E scores. These results suggest that longitudinal improvement in NDDI-E Item 4 may serve as a marker for psychiatric benefit. Effective use of the NDDI-E requires considering the psychiatric and psychosocial dimensions beyond seizure control. To validate these findings, studies with larger sample sizes and longer follow-up are necessary.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100810"},"PeriodicalIF":1.5,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144722667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Changes in brain network dynamics during functional/dissociative seizures: An exploratory pilot study on EEG microstates 功能性/解离性癫痫发作期间脑网络动力学的变化：脑电图微观状态的探索性初步研究

IF 1.8

Epilepsy and Behavior Reports Pub Date : 2025-07-23 DOI: 10.1016/j.ebr.2025.100809

Domantė Kučikienė , Johannes Jungilligens , Stefan Wolking , Yvonne Weber , Jörg Wellmer , Stoyan Popkirov

{"title":"Changes in brain network dynamics during functional/dissociative seizures: An exploratory pilot study on EEG microstates","authors":"Domantė Kučikienė , Johannes Jungilligens , Stefan Wolking , Yvonne Weber , Jörg Wellmer , Stoyan Popkirov","doi":"10.1016/j.ebr.2025.100809","DOIUrl":"10.1016/j.ebr.2025.100809","url":null,"abstract":"<div><div>The pathophysiology of functional/dissociative seizures (FDS), also known as psychogenic nonepileptic seizures, remains incompletely understood. Current theories suggest that ictal changes in self-awareness and behavioural control are likely related to arousal-mediated disruptions of brain network dynamics, but direct electrophysiological evidence is scarce. In a proof-of-concept, the second of its kind pilot study, we explored ictal changes in EEG microstates – quasi-stable patterns of electrical activity of 50–70 ms duration that represent fundamental building blocks of large-scale brain network dynamics. Across a sample of 13 FDS patients, four microstates yielded a high mean global explained variance of 76.2 % and qualitatively resembled the well-established “canonical” microstate map topographies A-D. Repeated measure analysis of variance did not reveal any significant differences in contribution, occurrence or global field power of microstates between baseline and ictal recordings. Microstate duration, however, was significantly different between baseline and seizure recordings with shorter durations of microstates in FDS (p = 0.007). This was most pronounced for microstate D (Cohen’s <em>d</em> = 0.75) with the change being significant in an exploratory post hoc paired <em>t</em>-test (p = 0.044). Since microstate D is thought to reflect frontoparietal network activity, the findings of this pilot study can be interpreted as supportive of current theories of arousal-mediated disruptions of network activity that reduce cognitive and behavioural control during FDS.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100809"},"PeriodicalIF":1.8,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144703494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The role of genetic testing in evaluating surgical outcomes for pediatric focal cortical dysplasia associated with NPRL3 variant 基因检测在评估小儿局灶性皮质发育不良与NPRL3变异相关的手术结果中的作用

IF 1.8

Epilepsy and Behavior Reports Pub Date : 2025-07-16 DOI: 10.1016/j.ebr.2025.100808

Bei Li , Liang Liu , Jianyun Su , Shanshan Jia , Zhijing Wang , Xia Li , Siyu Zhao

{"title":"The role of genetic testing in evaluating surgical outcomes for pediatric focal cortical dysplasia associated with NPRL3 variant","authors":"Bei Li , Liang Liu , Jianyun Su , Shanshan Jia , Zhijing Wang , Xia Li , Siyu Zhao","doi":"10.1016/j.ebr.2025.100808","DOIUrl":"10.1016/j.ebr.2025.100808","url":null,"abstract":"<div><div>This case report describes a 5-year-and-10-month-old female patient who developed sleep-related hypermotor epilepsy, at the age of 2, exhibiting various forms of seizures since the age of 2. Initially, the seizures were controlled for one year with multiple anti-seizure medications; however, symptoms recurred when the patient was 3 years and 5 months old, leading to an increased seizure frequency and a poor response to combined drug therapy. Long-term video-EEG revealed discharges originating from the frontal lobe, while MRI and PET-CT scans indicated FCD in the left frontal region. The patient underwent left frontal epileptogenic focus resection at the age of 6, with pathological findings confirming FCD type 1b. Whole-exome sequencing of blood and brain tissue samples revealed NPRL3 gene variants. Although she remained seizure-free for one year post-surgery, the patient experienced a relapse, with follow-up EEG revealing multifocal discharges. These findings indicate that variants in the NPRL3 gene contribute to focal cortical dysplasia (FCD) and are frequently associated with drug-resistant epilepsy. For FCD 1b patients with NPRL3 gene variants, the risks and benefits of surgery should be carefully evaluated. This report explores the role of NPRL3 gene variants in FCD1b and their impact on surgical treatment, emphasizing the importance of comprehensive preoperative assessment and individualized therapeutic strategies.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"32 ","pages":"Article 100808"},"PeriodicalIF":1.8,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0