Epilepsia最新文献

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Anomia prehabilitation in temporal lobe epilepsy surgery: A pilot study. 颞叶癫痫手术中失范的预防:一项初步研究。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-05-10 DOI: 10.1111/epi.18449
Véronique Sabadell, Christelle Zielinski, Elodie Garnier, Julia Makhalova, Aileen McGonigal, Stanislas Lagarde, Sandrine Aubert, Nathalie Villeneuve, Henry Dufour, Didier Scavarda, Fabrice Bartolomei, F-Xavier Alario, Agnès Trébuchon
{"title":"Anomia prehabilitation in temporal lobe epilepsy surgery: A pilot study.","authors":"Véronique Sabadell, Christelle Zielinski, Elodie Garnier, Julia Makhalova, Aileen McGonigal, Stanislas Lagarde, Sandrine Aubert, Nathalie Villeneuve, Henry Dufour, Didier Scavarda, Fabrice Bartolomei, F-Xavier Alario, Agnès Trébuchon","doi":"10.1111/epi.18449","DOIUrl":"https://doi.org/10.1111/epi.18449","url":null,"abstract":"<p><strong>Objective: </strong>An emerging approach in surgery is to propose prehabilitation programs to strengthen the patient's functional abilities before surgical interventions, thus helping them cope better with its consequences. In drug-resistant language-dominant temporal lobe epilepsy (LdTLE), surgical treatment carries a risk of increasing cognitive deficits, notably word-finding difficulties (anomia) and verbal memory difficulties that negatively impact personal, social, and occupational activities. In this study, we invited 15 LdTLE patients to enroll in a speech and language prehabilitation program adapted to the specifics of their difficulties, organized daily during the preoperative period.</p><p><strong>Methods: </strong>Naming performance (for trained and untrained words) was studied twice before prehabilitation, during prehabilitation, and 1 week and 6 months after surgery. Results were analyzed using a generalized linear mixed effects model.</p><p><strong>Results: </strong>We found a significant effect of prehabilitation on trained items before surgery. Postoperatively, trained items showed a slight and nonsignificant performance increase compared to baseline, whereas untrained items showed a significant decline in the same comparison.</p><p><strong>Significance: </strong>We conclude that trained words were better protected from postsurgical decline than untrained words. Our research can contribute to patient support during surgical decision-making; ultimately, prehabilitation might be considered as part of individualized care. These encouraging results lay the groundwork for more detailed or powerful examinations of the protective effect of prehabilitation on language skills.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143992263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Trajectories of long-term survival after status epilepticus. 癫痫持续状态后的长期生存轨迹。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-05-08 DOI: 10.1111/epi.18428
Camilla Dyremose Cornwall, Simon Bang Kristensen, Line Bedos Ulvin, Kjell Heuser, Erik Taubøll, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Christoph Patrick Beier
{"title":"Trajectories of long-term survival after status epilepticus.","authors":"Camilla Dyremose Cornwall, Simon Bang Kristensen, Line Bedos Ulvin, Kjell Heuser, Erik Taubøll, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Christoph Patrick Beier","doi":"10.1111/epi.18428","DOIUrl":"https://doi.org/10.1111/epi.18428","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the trajectories of clinical characteristics and prognostic factors among long-term survivors of status epilepticus (SE), given the high mortality during acute hospitalization and in subsequent years.</p><p><strong>Methods: </strong>Adult patients (≥18 years of age) with first-time, non-anoxic SE were identified and included from University Hospitals in Oslo (Norway), Odense (Denmark), Frankfurt, and Marburg (Germany). Demographics, etiology, comorbidities, and seizure characteristics were assessed. Poisson regression was used to model mortality rates over the follow-up period.</p><p><strong>Results: </strong>Between 2001 and 2017, we included 1306 patients (median follow-up: 17.4 months). The estimated cumulative proportion surviving at 3, 12, 24, and 36 months were 94.0%, 73.0%, 51.1%, and 39.5%, respectively, with a similar increase in mortality after discharge across all cohorts. Daily mortality peaked during the first 150 days; mortality trajectories differed depending on etiology, SE duration, and age. The clinical characteristics of survivors changed during long-term follow-up; long-term survivors (>36 months) were younger, had shorter SE durations, and had different underlying etiologies. The relative impact of different prognostic factors on the daily mortality shifted during long-term follow-up. Although most established prognostic factors strongly influenced in-hospital mortality, the relative impact of SE duration, comorbidities, and remote symptomatic etiologies first peaked after 6 months.</p><p><strong>Significance: </strong>The optimal time point to assess survival in the acute phase is at 6 months, whereas evaluating survival after 2.5 years provides reliable estimates of long-term mortality. Assessing SE survival at discharge underestimates the impact of remote symptomatic etiologies and duration of SE on long-term survival.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143959437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prospective neuroimaging and neuropsychological evaluation in adults with newly diagnosed focal epilepsy. 成人新诊断局灶性癫痫的前瞻性神经影像学和神经心理学评价。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-05-08 DOI: 10.1111/epi.18410
Christophe E de Bezenac, Nicola Leek, Guleed Adan, Ahmad M S Ali, Rajiv Mohanraj, Shubhabrata Biswas, Ronan N Mcginty, Kieran Murphy, Helen Malone, Gus Baker, Perry Moore, Anthony G Marson, Simon S Keller
{"title":"Prospective neuroimaging and neuropsychological evaluation in adults with newly diagnosed focal epilepsy.","authors":"Christophe E de Bezenac, Nicola Leek, Guleed Adan, Ahmad M S Ali, Rajiv Mohanraj, Shubhabrata Biswas, Ronan N Mcginty, Kieran Murphy, Helen Malone, Gus Baker, Perry Moore, Anthony G Marson, Simon S Keller","doi":"10.1111/epi.18410","DOIUrl":"https://doi.org/10.1111/epi.18410","url":null,"abstract":"<p><strong>Objective: </strong>Few prospective studies exist on newly diagnosed focal epilepsy (NDFE), a critical period for understanding epilepsy's biology and identifying biomarkers and potential interventions. We report a prospective cohort study in patients with NDFE and age-, sex-, and education-matched healthy controls.</p><p><strong>Methods: </strong>We recruited 104 patients with NDFE and 45 controls for research-grade 3 Tesla multi-modal magnetic resonance imaging (MRI), electroencephalography (EEG), comprehensive neuropsychological testing, and blood biomarker investigations. Baseline clinical, neuroradiological, MRI morphometric, and neuropsychological findings are reported in this article.</p><p><strong>Results: </strong>Following neuroradiological reporting, MRI was unremarkable in 38% of patients, showed lesions associated with epilepsy in 12%, abnormalities of unknown significance in 49%, and incidental findings in 23%. For controls, these figures were 56%, 7%, 33%, and 16%, respectively. Patients had more white matter hyperintensities, classified as abnormalities of unknown significance, than controls. Reduced bihemispheric frontal lobe cortical thickness and thalamic volumes with moderate effect sizes were observed in patients. Compared to controls, patients scored lower on executive function, processing speed, and visual, delayed, and immediate memory tasks, and higher on depression and anxiety assessments. Cluster analysis identified four distinct patient cognitive profiles, two of which were associated with high levels of anxiety and depression and lower executive function and memory scores.</p><p><strong>Significance: </strong>Adults with focal NDFE have more MRI-positive findings than previously reported. Subtle white matter lesions may have clinical significance and a pathophysiological basis in focal epilepsy. Morphometric and neuropsychological changes at epilepsy diagnosis suggest that brain and cognitive alterations are not solely due to chronic epilepsy.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143986558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
kcnb1 loss of function in zebrafish causes neurodevelopmental and epileptic disorders associated with γ-aminobutyric acid dysregulation. 斑马鱼Kcnb1功能丧失导致与γ-氨基丁酸失调相关的神经发育和癫痫疾病。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-05-07 DOI: 10.1111/epi.18407
Lauralee Robichon, Claire Bar, Anca Marian, Lisa Lehmann, Solène Renault, Edor Kabashi, Sorana Ciura, Rima Nabbout
{"title":"kcnb1 loss of function in zebrafish causes neurodevelopmental and epileptic disorders associated with γ-aminobutyric acid dysregulation.","authors":"Lauralee Robichon, Claire Bar, Anca Marian, Lisa Lehmann, Solène Renault, Edor Kabashi, Sorana Ciura, Rima Nabbout","doi":"10.1111/epi.18407","DOIUrl":"https://doi.org/10.1111/epi.18407","url":null,"abstract":"<p><strong>Objective: </strong>KCNB1 encodes an α-subunit of the delayed-rectifier voltage-dependent potassium channel K<sub>v</sub>2.1. De novo pathogenic variants of KCNB1 have been linked to developmental and epileptic encephalopathies (DEEs), diagnosed in early childhood and sharing limited treatment options. Loss of function (LOF) of KCNB1 has been proposed as the pathogenic mechanism in these disorders. Here, we aim to characterize a knockout zebrafish line targeting kcnb1 (kcnb1<sup>+/-</sup> and kcnb1<sup>-/-</sup>) for investigating DEEs.</p><p><strong>Methods: </strong>This study presents the phenotypic analysis of a kcnb1 knockout zebrafish model, obtained by CRISPR/Cas9 (Clustered Regularly Interspaced Short Palindromic Repeats) mutagenesis. Through a combination of immunohistochemistry, behavioral assays, electrophysiological recordings, and neurotransmitter quantifications, we have characterized the expression, function, and impact of this kcnb1 LOF model at early stages of development.</p><p><strong>Results: </strong>In wild-type (WT) larval zebrafish, kcnb1 was found in various regions of the central nervous system and in diverse cell subtypes including neurons, oligodendrocytes, and microglial cells. Both kcnb1<sup>+/-</sup> and kcnb1<sup>-/-</sup> zebrafish displayed impaired swimming behavior and \"epilepsy-like\" features that persisted through embryonic and larval development, with variable severity, which was restored by the human K<sub>v</sub>2.1 WT DNA. When exposed to the chemoconvulsant pentylenetetrazol (PTZ), both knockout models showed elevated locomotor activity. In addition, PTZ-exposed kcnb1<sup>-/-</sup> larvae exhibited increased bdnf mRNA expression and higher c-Fos fluorescence intensity in cells of the telencephalon. This same model presents spontaneous and provoked epileptiform-like electrographic activity associated with γ-aminobutyric acid dysregulation, whereas the brain anatomy and neuronal circuit organization remained unaffected.</p><p><strong>Significance: </strong>We conclude that kcnb1 knockout in zebrafish leads to early onset phenotypic features reminiscent of DEEs, affecting neuronal functions and primarily inhibitory pathways in developing embryonic and larval brains. This study highlights the relevance of this model for investigating developmental neuronal signaling pathways in KCNB1-related DEEs.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143959513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of antiseizure medications on sexual hormones and functions in males with epilepsy: A systematic review and meta-analysis. 抗癫痫药物对男性癫痫患者性激素和性功能的影响:一项系统综述和荟萃分析。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-05-05 DOI: 10.1111/epi.18436
R Grace Couper, Poul H Espino, M Pilar Vicuna, Jorge G Burneo
{"title":"Effects of antiseizure medications on sexual hormones and functions in males with epilepsy: A systematic review and meta-analysis.","authors":"R Grace Couper, Poul H Espino, M Pilar Vicuna, Jorge G Burneo","doi":"10.1111/epi.18436","DOIUrl":"https://doi.org/10.1111/epi.18436","url":null,"abstract":"<p><p>The fertility effects of antiseizure medications (ASMs) have been highlighted in females of reproductive age; however, the effects in males have not been extensively analyzed. This review aims to summarize the existing evidence of how ASMs affect sexual hormones and functions in males with epilepsy. We searched the Embase, PubMed, and MEDLINE databases in January 2024 to identify studies measuring sexual hormones, sexual function, or sperm parameters of males with epilepsy taking any ASM except valproic acid who were compared to a control group. A systematic review summarizing the effects of valproic acid on sexual function was published in 2018; therefore, we excluded valproic acid to avoid duplicating existing evidence. Risk of bias assessments were specific to the study type and included the National Institutes of Health (NIH) Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies, NIH Quality Assessment Tool for Before-After (Pre-Post) Studies, and Cochrane Risk of Bias-2 tool for randomized trials. The systematic review included 32 studies, and the meta-analysis included 22 studies. Using random effect models, we calculated mean differences or rate ratios for studies assessing the association between ASMs and male sexual hormones or functions. Analyses were run for each combination of individual ASM or ASM characteristic, outcome, and comparison group. Males taking oxcarbazepine had significantly higher levels of testosterone, luteinizing hormone, and follicle-stimulating hormone compared to healthy controls. Conversely, there was no evidence of differences in any outcomes between levetiracetam or lamotrigine and comparison groups. Analyses that included untreated males with epilepsy rarely differed from males taking ASMs, highlighting the potential importance of epilepsy on altered sex hormones and functions. However, results should be interpreted cautiously, as many analyses included only a few studies and had high heterogeneity.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143958709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An interview with Tobias Bauer, 2025 Epilepsia Prize winner for clinical research. 采访Tobias Bauer, 2025年癫痫临床研究奖得主。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-05-05 DOI: 10.1111/epi.18415
Fernando Cendes, Stéphane Auvin
{"title":"An interview with Tobias Bauer, 2025 Epilepsia Prize winner for clinical research.","authors":"Fernando Cendes, Stéphane Auvin","doi":"10.1111/epi.18415","DOIUrl":"https://doi.org/10.1111/epi.18415","url":null,"abstract":"","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Do you have epilepsy, a seizure disorder, or neither? Patients' perception of their diagnosis in an epilepsy clinic. 你是否患有癫痫,癫痫性疾病,或者两者都没有?癫痫门诊患者对诊断的认知。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-05-05 DOI: 10.1111/epi.18441
Farnaz Sinaei, Colin B Josephson, Samuel Wiebe
{"title":"Do you have epilepsy, a seizure disorder, or neither? Patients' perception of their diagnosis in an epilepsy clinic.","authors":"Farnaz Sinaei, Colin B Josephson, Samuel Wiebe","doi":"10.1111/epi.18441","DOIUrl":"https://doi.org/10.1111/epi.18441","url":null,"abstract":"<p><strong>Objective: </strong>To explore how people with epilepsy self-characterize their diagnosis as being epilepsy, a seizure disorder, or neither.</p><p><strong>Methods: </strong>People diagnosed with epilepsy by epileptologists, responded to two questions: \"do you have epilepsy?\" and \"do you have a seizure disorder?\". Demographic, clinical and patient-reported outcome measures were extracted from Calgary Comprehensive Epilepsy Program registry. Multivariable multinomial and logistic regression models were used to determine factors associated with self-perception of the diagnosis.</p><p><strong>Results: </strong>Of 1684 epilepsy patients who answered both questions, 1231 (73.1%) perceived themselves as having epilepsy, 137 (8.1%) a seizure disorder but not epilepsy, 145 (8.6%) neither of the diagnoses, and 171 (10.2%) as not knowing their diagnosis. On multivariate analyses, factors significantly associated with a higher likelihood of self-perception as having a seizure disorder versus epilepsy included having focal epilepsy (relative risk ratio [RRR] = 13.1, 95% confidence interval [CI]: 1.7-102.1), and a higher comorbidity burden (RRR = 1.8, 95% CI: 1.3-2.7), whereas self-perception of having a seizure disorder vs epilepsy was lower in females (RRR = .36, 95% CI: .14-.94) and those taking more antiseizure medications (ASMs) (RRR = .19, 95% CI: .06-.58). Self-perception of having neither diagnosis was significantly more likely in people with focal epilepsy (RRR = 3.1, 95% CI: 1.2-8.3) and a higher comorbidity burden (RRR = 1.6, 95% CI: 1.1-2.4), whereas the likelihood was lower with a longer duration of epilepsy (RRR = .96, 95% CI: .93-.99), taking a higher number of ASMs, (RRR = .14, 95% CI: .04-.51), having more side effects (RRR = .89, 95% CI: .83-.96), a higher self-rated severity of epilepsy (RRR = .26, 95% CI: .14-.49), and if the respondent was the patient as opposed to a proxy (RRR = .24, 95% CI: .07-.85).</p><p><strong>Significance: </strong>In a clinical setting, clinical characteristics, rather than sociodemographic factors, largely explain how people with epilepsy self-characterize their diagnosis. Markers of higher seizure severity and longer illness duration increase the likelihood of self-perception as having epilepsy.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143973190","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Predictors of atypical language lateralization in focal epilepsy: A mega-analysis of fMRI evidence. 局灶性癫痫的非典型语言偏侧的预测因素:fMRI证据的大型分析。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-05-05 DOI: 10.1111/epi.18422
Freya Prentice, Lara Chehabeddine, Maria Helena Eriksson, Jennifer Murphy, Leigh N Sepeta, William D Gaillard, Madison M Berl, Frédérique Liégeois, Torsten Baldeweg
{"title":"Predictors of atypical language lateralization in focal epilepsy: A mega-analysis of fMRI evidence.","authors":"Freya Prentice, Lara Chehabeddine, Maria Helena Eriksson, Jennifer Murphy, Leigh N Sepeta, William D Gaillard, Madison M Berl, Frédérique Liégeois, Torsten Baldeweg","doi":"10.1111/epi.18422","DOIUrl":"https://doi.org/10.1111/epi.18422","url":null,"abstract":"<p><strong>Objective: </strong>To identify predictors of language lateralization derived from functional magnetic resonance imaging (fMRI) in children and adults with left- and right-sided focal epilepsy.</p><p><strong>Methods: </strong>We conducted a mega-analysis of data from 914 individuals from 24 samples. We used multilevel models to identify predictors of language lateralization in left and right hemisphere epilepsy groups. We assigned each participant a clinical predictor score to explore whether there was a cumulative influence of predictors on increasing atypical language lateralization.</p><p><strong>Results: </strong>Left hemisphere epilepsy was a predictor of greater atypical language lateralization in the combined sample. Additional predictors of atypical language lateralization included left/ambidextrous handedness in both the left and right hemisphere groups, and longer duration of epilepsy, frontal lobe involvement, and history of a stroke or other precipitating injury in the left hemisphere group only. There was a cumulative effect of predictors in the left hemisphere groups. Eighty percent of individuals with four or more predictors had atypical language lateralization, compared to 19% of individuals with no predictors, other than left hemisphere epilepsy.</p><p><strong>Significance: </strong>Consistent with theories of language plasticity, we demonstrated a robust effect of early acquired left hemisphere injury on language lateralization. There was also a subtle effect of duration of epilepsy, perhaps reflecting increasing bilaterality with age in adulthood. The association between left/ambidextrous handedness and atypical language lateralization in the left and right hemisphere groups likely reflects both genetic and epilepsy-associated effects. The total number of predictors identified for an individual could serve as an indication for presurgical language fMRI, when surgical management is considered.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143975767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An interview with Louison Pineau 2025 Epilepsia prize winner for basic science. 采访2025年癫痫基础科学奖得主路易森·皮诺。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-05-05 DOI: 10.1111/epi.18416
Fernando Cendes, Stéphane Auvin
{"title":"An interview with Louison Pineau 2025 Epilepsia prize winner for basic science.","authors":"Fernando Cendes, Stéphane Auvin","doi":"10.1111/epi.18416","DOIUrl":"https://doi.org/10.1111/epi.18416","url":null,"abstract":"","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Focal epilepsy with sensory seizures associated with arginine:glycine amidinotransferase deficiency: A clinical and advanced magnetic resonance imaging study. 局灶性癫痫伴感觉性发作伴精氨酸:甘氨酸氨基转移酶缺乏:临床和高级磁共振成像研究。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-05-05 DOI: 10.1111/epi.18442
Francesco Fortunato, Roberta De Fiores, Ilaria Sammarra, Maria Celeste Bonacci, Maria Eugenia Caligiuri, Miriam Sturniolo, Iolanda Martino, Antonio Gambardella
{"title":"Focal epilepsy with sensory seizures associated with arginine:glycine amidinotransferase deficiency: A clinical and advanced magnetic resonance imaging study.","authors":"Francesco Fortunato, Roberta De Fiores, Ilaria Sammarra, Maria Celeste Bonacci, Maria Eugenia Caligiuri, Miriam Sturniolo, Iolanda Martino, Antonio Gambardella","doi":"10.1111/epi.18442","DOIUrl":"https://doi.org/10.1111/epi.18442","url":null,"abstract":"<p><p>We aim to determine whether epilepsy can be considered part of the arginine:glycine amidinotransferase (AGAT) deficiency syndrome phenotype and to identify its associated electroclinical signatures. We reviewed clinical data from our center, identifying individuals with AGAT deficiency. Each individual underwent a dedicated epilepsy assessment with electroencephalography and 3-T brain magnetic resonance imaging (MRI). Additionally, 30 age- and sex-matched healthy controls (18 females, 28.2 ± 3.7 years old) were recruited for advanced MRI analysis. A family with four affected members carrying homozygous AGAT c.446>A:p.Trp149* variant was identified. Two individuals had focal epilepsy with sensory seizures characterized by a prominent \"tingling\" sensation. Three experienced febrile seizures plus and marked temperature sensitivity. Corpus callosum dysmorphisms were observed in three cases. Despite creatine supplementation, cortical thickness was significantly reduced across multiple brain regions compared to controls, as indicated by Z-scores. A brain map of AGAT mRNA expression revealed lower expression in the parieto-occipital areas. Our findings suggest that focal epilepsy with sensory seizures and temperature-related seizures may be part of the AGAT deficiency spectrum. Furthermore, significant brain atrophy was demonstrated, despite creatine supplementation. The sensory-predominant epilepsy phenotype aligns with observed atrophy and AGAT-mRNA regional expression patterns, supporting its biological plausibility.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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