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Genetic generalized epilepsy with catecholaminergic polymorphic ventricular tachycardia complicated by ryanodine receptor 2 variant: A case report Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-04-04 Kazutoshi Konomatsu, Yosuke Kakisaka, Kazutaka Jin, Takeshi Aiba, Shin Takahashi, Hironobu Ueda, Takafumi Kubota, Temma Soga, Kazushi Ukishiro, Masashi Aoki, Nobukazu Nakasato
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An automated algorithm for stereoelectroencephalography electrode localization and labelling Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-04-04 Simeon M Wong, Olivia N Arski, George M Ibrahim
Stereoelectroencephalography (sEEG) is increasingly utilized for localization of seizure foci, functional mapping, and neurocognitive research due to its ability to target deep and difficult to reach anatomical locations and to study in vivo brain function with a high signal-to-noise ratio. The research potential of sEEG is constrained by the need for accurate localization of the implanted electrodes
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Evaluation of MRI post-processing methods combined with PET in detecting focal cortical dysplasia lesions for patients with MRI-negative epilepsy Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-03-28 Zhe Qian, Jiuluan Lin, Rifeng Jiang, Stéphane Jean, Yihai Dai, Donghuo Deng, Panashe Tevin Tagu, Lin Shi, Shiwei Song
Accurate detection of focal cortical dysplasia (FCD) through magnetic resonance imaging (MRI) plays a pivotal role in the preoperative assessment of epilepsy. The integration of multimodal imaging has demonstrated substantial value in both diagnosing FCD and devising effective surgical strategies. This study aimed to enhance MRI post-processing by incorporating positron emission tomography (PET) analysis
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Applicability of the International League Against Epilepsy (ILAE) 2022 diagnostic criteria for epilepsy syndromes in children: A retrospective review of 1550 children with epilepsy Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-03-27 Bhavya Kansal, Aakanksha Anand, Divyani Garg, Anshika Gupta, Ashna Kumar, Suvasini Sharma
Recently, the ILAE Nosology and Definitions Task Force defined diagnostic criteria for epilepsy syndromes. There is paucity of data on the use of these new diagnostic criteria in children with epilepsy, and how these criteria may lead to changes from previous practice. This was a retrospective chart review of data of children attending the epilepsy clinic in a tertiary care children's hospital from
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PETSurfer-Based Brain Segmentation in Patients with Temporal Lobe Epilepsy and Associated Hippocampal Sclerosis Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-03-27 Zorica Joković, Aleksa Pejović, Vera Miler Jerković, Dragoslav Sokić, Nikola Vojvodić, Marija Mijaljević, Vladimir Baščarević, Leposava Brajković, Aleksandar J. Ristić
In a homogeneous cohort of mesial temporal lobe epilepsy (mTLE) patients with hippocampal sclerosis (HS), this study utilizes the PETSurfer method to quantify and localize areas of cerebral hypometabolism. We selected patients from the University Clinical Center of Serbia who all underwent anterior temporal lobectomy with amygdalohippocampectomy and achieved seizure freedom (Engel class I). Our analysis
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Neuropsychology of late-onset epilepsies Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-03-26 C. Helmstaedter, C. Tailby, J-A. Witt
In an increasingly ageing society, patients ageing with epilepsy and those with late-onset epilepsies (LOE) represent a challenge for epilepsy care and treatment. Senescence itself bears risks of pathologies which in the form of acute focal damage (e.g. stroke) or slowly progressive degenerative damage can cause seizures and substantial cognitive impairment. There is converging evidence from studies
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Reprint of: Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-03-21 Liang Jin, Yun Li, Sheng Luo, Qian Peng, Qiong-Xiang Zhai, Jin-Xia Zhai, Liang-Di Gao, Jia-Jun Guo, Wang Song, Yong-Hong Yi, Na He, Yong-Jun Chen
The gene, encoding adenomatous polyposis coli protein-2, is involved in cytoskeletal regulation in neurons responding to endogenous extracellular signals and plays an important role in brain development. Previously, the variants have been reported to be associated with cortical dysplasia and intellectual disability. This study aims to explore the association between variants and epilepsy. Whole-exome
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Real-world safety of Levetiracetam: Mining and analysis of its adverse drug reactions based on FAERS database Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-03-21 Zhimin He, Cuimin Liu, Lin Lin, Guowen Feng, Gang Wu
Levetiracetam is a relatively new and widely utilized anti-seizure medication; however, limited information is available regarding its adverse effects. This study aims to thoroughly investigate, evaluate, and present evidence on the safety profile of Levetiracetam, relying on data from the FDA Adverse Event Reporting System (FAERS) database to facilitate informed clinical decision-making. We employed
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Optimizing EEG monitoring in critically ill children at risk for electroencephalographic seizures Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-03-20 Kyle Coleman, France W. Fung, Alexis Topjian, Nicholas S. Abend, Rui Xiao
Strategies are needed to optimally deploy continuous EEG monitoring (CEEG) for electroencephalographic seizure (ES) identification and management due to resource limitations. We aimed to construct an efficient multi-stage prediction model guiding CEEG utilization to identify ES in critically ill children using clinical and EEG covariates. The largest prospective single-center cohort of 1399 consecutive
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Human rights and support groups to improve quality of life, self-care and disability in epilepsy: [Rights and support groups for epilepsy] Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-03-16 Felipe Agudelo-Hernández, Gloria Inés Saldarriaga Toro, Laura Inés Plata-Casas
People with epilepsy have multiple barriers to recovering their quality of life. The objective of the present study was to determine the impact of a community group intervention focused on the components of mutual aid and human rights, to improve the quality of life in people with epilepsy. Prospective quasi-experimental study, incorporating pre- and post-intervention evaluations. There were 102 people
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Perceived and self-stigma in people with epilepsy in East Africa: Systematic review and meta-analysis Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-03-11 Techilo Tinsae, Shegaye Shumet, Girmaw Medfu Takelle, Gidey Rtbey, Setegn Fentahun, Wondale Getinet
People with stigmatizing conditions associated with epilepsy encounter many difficulties in their daily lives and are more likely to have low self-esteem, low levels of hope, internalize negative attitudes, decrease adherence to treatment, and experience unemployment. The purpose of this study was to quantify the extent of perceived stigma and self-stigma among people with epilepsy. This systematic
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Predictors of medical intractability in children with epilepsy onset during the first two years of life, excluding infantile epileptic spasm syndrome Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-03-09 Miraç Yıldırım, Mert Altıntaş, Ece Uysal, Ömer Bektaş, Serap Teber
Early childhood epilepsy presents a significant challenge, with approximately 30 % of individuals experiencing treatment failure. This study aimed to identify predictors of medical intractability in children with epilepsy onset during the first two years of life, excluding infantile epileptic spasm syndrome. A total of 323 children were retrospectively evaluated. The analyses included a review of medical
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Posttraumatic epilepsy in chronic disorders of consciousness due to severe traumatic brain injury after traffic accidents Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-03-08 Shoji Yasuda, Hirohito Yano, Yuka Ikegame, Morio Kumagai, Toru Iwama, Jun Shinoda, Tsuyoshi Izumo
To evaluate the clinical state of posttraumatic epilepsy (PTE) in patients with chronic disorders of consciousness (CDC) due to severe traumatic brain injury (STBI) after traffic accidents and clarify the risk factors for seizure occurrence in such patients. Two hundred ninety-three patients with CDC due to STBI (mean age at admission [±standard deviation]: 36.4 ± 17.9 years; men: 71.7 %; mean duration
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Teratogenicity of zonisamide and other little-used antiseizure medications Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-03-02 Frank J.E. Vajda, Terence J. O'Brien, Janet E. Graham, Alison A. Hitchcock, Piero Perucca, Cecilie M. Lander, Mervyn J. Eadie
To investigate the risk of teratogenesis occurring in relation to intrauterine exposure to infrequently used antiseizure medications in Australia. Analysis of data contained in the Raoul Wallenberg Australian Pregnancy Register of Antiepileptic Drugs. There was statistically significant evidence that zonisamide, but not any other of nine infrequently used antiseizure medications in Australia, was associated
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Neurostimulation targeting the epileptic focus: Current understanding and perspectives for treatment Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-03-02 Andreas Schulze-Bonhage, Michael A. Nitsche, Stefan Rotter, Niels K. Focke, Vikram R. Rao
For the one third of people with epilepsy whose seizures are not controlled with medications, targeting the seizure focus with neurostimulation can be an effective therapeutic strategy. In this focused review, we summarize a discussion of targeted neurostimulation modalities during a workshop held in Frankfurt, Germany in September 2023. Topics covered include: available devices for seizure focus stimulation;
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Psychiatric assessment prior to and after switch from levetiracetam to brivaracetam Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-02-29 Ammar Kassoum, Tassanai Intravooth, Anne-Sophie Wendling, Anke M. Staack, Bernhard J. Steinhoff
Brivaracetam is often used as an alternative to levetiracetam in patients with epilepsy (PWE) encountering efficacy issues or adverse events with levetiracetam. This study evaluated the psychological status of PWE who were switched from levetiracetam to brivaracetam due to psychiatric tolerability concerns in comparison to those who remained on levetiracetam. We used various psychological assessments
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A challenging case of epilepsy in infancy with migrating focal seizures due to a de novo KCNT1 missense variant (c.1438G>A, p.Asp480Asn) Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-02-29 Moisés León-Ruiz, Pablo Alonso-Singer, Milagros Merino-Andreu, Carlos Castañeda-Cabrero
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Comparison of neurodevelopmental, educational and adult socioeconomic outcomes in offspring of women with and without epilepsy: A systematic review and meta-analysis Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-02-29 Paolo Pierino Mazzone, Kirsty Mhairi Hogg, Christopher J. Weir, Jacqueline Stephen, Sohinee Bhattacharya, Simone Richer, Richard F.M. Chin
Adequate pre-pregnancy counselling and education planning are essential to improve outcomes for offspring of women with epilepsy (OWWE). The current systematic review and meta-analysis aimed to compare outcomes for OWWE and offspring of women without epilepsy (OWWoE). We conducted a systematic review and meta-analysis. We searched MEDLINE, EMBASE, CINAHL, PsycINFO (database inception-1 January 2023)
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Functional brain connectivity in children with focal epilepsy: A systematic review of functional MRI studies Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-02-28 Xiyu Feng, Rory J. Piper, Freya Prentice, Jonathan D. Clayden, Torsten Baldeweg
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Long-term prognosis of patients with photosensitive idiopathic generalized epilepsy Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-02-23 Tülay Yılmaz Erol, Tuba Cerrahoğlu Şirin, Nermin Görkem Şirin, Nerses Bebek, Betül Baykan
The long-term prognosis of photosensitive idiopathic generalized epilepsy (p-IGE) is generally considered favorable; however, its specific characteristics remain unclear. Our objective was to investigate the extended prognosis of p-IGE. We analyzed the demographics, clinical, and electroencephalographic (EEG) data of consecutive patients who were diagnosed as having p-IGE, who were under follow-up
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Diagnosis and management of infantile epileptic spasms syndrome (IESS) in Gulf Cooperation Council (GCC) countries: Expert consensus statement Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-02-23 Fahad A. Bashiri, Khalid Hundallah, Raidah Al-Baradie, Ali Al-Otaibi, Omar Ismayl, Mohamed Elhadi AlMalik, Osama Y. Muthaffar, Amna Al Futaisi, Daniah Kurdi, Asmaa Al Tawari, Daad AlSowat, Shatha AL Shafi, Ayman Ali, Lynn M. AlHajjar, Abdullah Aldakhil
Despite the availability of international recommendations for the management of Infantile Epileptic Spasms Syndrome (IESS), there is a lack of recommendations adapted to the local context of clinical practice of pediatric neurology in the Gulf Cooperation Council (GCC) countries. By an initiative from the Saudi Pediatric Neurology Society (SPNS), a literature review was performed and an expert panel
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An atypical case of phosphoglycerate kinase deficiency with a novel PGK1 variant Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-02-20 Xizhong Zhou, Qiuli Liu, Mingwei Huang
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A rare syndrome: Microcephaly, diabetes mellitus, and epilepsy due to homozygous TRMT10A mutation Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-01-19 Firdevs Ezgi Uçan Tokuç, Meltem Korucuk, Tarkan Kalkan, Fatma Genç
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Epilepsy-associated genes: discovery, clinical significance, and underlying principles of genetic medicine Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2024-01-03 Wei-Ping Liao
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Bilateral and synchronous "dents de scie" spikes: A highly specific EEG pattern of young adult Dravet syndrome. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-25 Philippe Gélisse,Pierre Genton,Arielle Crespel
BACKGROUND In Dravet syndrome (DS), EEGs evolve over time. OBJECTIVE To describe a peculiar EEG pattern in two adults with a de novo SCN1A gene mutation, in exon 5 (case 1) and 9 (case 2). METHODS Two female patients underwent a prolonged video EEG (24 h) as part of their epilepsy assessment. RESULTS In both cases, the EEG showed a very peculiar and stereotypical pattern of bilateral synchronous spikes
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Interpretable machine learning models for predicting 90-day death in patients in the intensive care unit with epilepsy. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-25 Yingfang She,Liemin Zhou,Yide Li
PURPOSE This study aims to develop a machine learning-based model for predicting mortality risk in patients with epilepsy admitted to the intensive care unit (ICU), providing clinicians with an accurate prognostic tool to guide individualized treatment. METHODS We collected clinical data from clinical databases (MIMIC IV and eICU-CRD) of epilepsy patients 24 h after ICU admission. The clinical characteristics
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Assessing the performance of ChatGPT's responses to questions related to epilepsy: A cross-sectional study on natural language processing and medical information retrieval. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-23 Hyun-Woo Kim,Dong-Hyeon Shin,Jiyoung Kim,Gha-Hyun Lee,Jae Wook Cho
BACKGROUND Epilepsy is a neurological condition marked by frequent seizures and various cognitive and psychological effects. Reliable information is essential for effective treatment. Natural language processing models like ChatGPT are increasingly used in healthcare for information access and data analysis, making it crucial to assess their accuracy. OBJECTIVE This study aimed to investigate the accuracy
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Normalization and cross-sectional validation of an extended Adverse Event Profile (E AEP) in a large cohort of patients with epilepsy. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-22 Christoph Helmstaedter,Carolin Meschede,Sandra Mastani,Susanna Moskau-Hartmann,Michael Rademacher,Randi von Wrede,Juri-Alexander Witt
PURPOSE The Liverpool Adverse Event Profile (L AEP) is commonly applied in clinical practice and pharmacological trials for the monitoring of side effects of anti-seizure medication (ASM). However, additional symptoms need to be assessed and normative data would be appreciated to put patients´ complaints into perspective. METHODS An extended 32-item AEP (E AEP) was given to 537 healthy subjects and
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Predictors of elevations in fasting lipid levels in adults with epilepsy on a modified Atkins diet. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-21 Tanya J W McDonald,Luisa Diaz-Arias,Diane Vizthum,Bobbie J Henry-Barron,Mackenzie C Cervenka
BACKGROUND Ketogenic diet therapies can improve seizure control in patients with drug-resistant epilepsy (DRE). The current study investigated whether dietary fat composition is associated with elevations in serum lipid levels in adults with epilepsy who began a modified Atkins diet (MAD). METHODS Adults with DRE were instructed to follow the MAD. Food records collected at baseline and follow-up were
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Clinician views regarding early surgery for paediatric epilepsy. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-20 Omar Salim,Aswin Chari,Ido Ben Zvi,Rachel Batchelor,Torsten Baldeweg,J Helen Cross,Martin Tisdall
OBJECTIVE Many children with lesional epilepsies progress to drug resistance, a criterion required for surgical referral. Expedited surgery may reduce exposure of the developing brain to uncontrolled seizures, improving cognitive outcomes. Designing a trial comparing early surgery with standard care necessitates input from specialist clinicians regarding feasibility and measurable outcomes, which this
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Peri-ictal water drinking with temporo-insular onset: A Stereoelectroencephalography (SEEG) case. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-13 Norah A AlKhaldi,Poul Espino Alvarado,Jorge G Burneo,Keith Macdougall,Brent Hayman-Abello,Ana Suller Marti
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The promises and pitfalls of seizure phenomenology. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-11 Alistair Wardrope
The typical adult patient presenting with a first seizure has a normal clinical examination, uninformative investigations, and often has no witness to their episode. The assessing clinician, therefore, has one primary source of information to guide their assessment; the patient's experience. However, seizure phenomenology - the subjective seizure experience - has received relatively less attention
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Role of magnetoencephalography in predicting the epileptogenic zone and post-operative seizure outcome - A retrospective study. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-11 Dodmalur Mallikarjuna Sindhu,Ravindranadh Chowdary Mundlamuri,Bhargava Goutham,Mariyappa Narayanan,Kenchaiah Raghavendra,Ajay Asranna,Lakshminarayanapuram Gopal Vishwanathan,Karthik Kulanthaivelu,Jitender Saini,Sandhya Mangalore,Rose Dawn Bharath,Nishanth Sadashiva,Anita Mahadevan,Rajeswaran Jamuna,Arimappamagan Arivazhagan,Malla Bhaskara Rao,Sanjib Sinha
PURPOSE Study assessed the role of MSI in predicting the post-operative seizure outcome. METHODS This retrospective study included patients who underwent MEG and epilepsy surgery and had a minimum 6 months of postoperative follow-up. Concordance of MEG cluster with post-surgical resection cavity was classified as follows Class I) Concordant and region-specific, Class II) Concordant and region non-specific
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Machine learning-based classification of physiological and pathological high-frequency oscillations recorded by stereoelectroencephalography. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-10 Zilin Li,Baotian Zhao,Wenhan Hu,Chao Zhang,Xiu Wang,Jianguo Zhang,Kai Zhang
OBJECTIVE High-frequency oscillations (HFOs) are an efficient indicator to locate the epileptogenic zone (EZ). However, physiological HFOs produced in the normal brain region may interfere with EZ localization. The present study aimed to build a machine learning-based classifier to distinguish the properties of each HFO event based on features in different domains. METHODS HFOs were detected in focal
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Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-09 Özlem Yalçın Çapan, Dilşad Türkdoğan, Sertaç Atalay, Hande S. Çağlayan
Developmental and Epileptic Encephalopathies (DEEs) are rare neurological disorders characterized by early-onset medically resistant epileptic seizures, structural brain malformations, and severe developmental delays. These disorders can arise from mutations in genes involved in vital metabolic pathways, including those within the brain. Recent studies have implicated defects in the mitochondrial malate
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Video-EEG in the first 24 hours after the first unprovoked seizure in patients with normal neurological examination and head CT scan. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-04 Virgilio Hernando-Requejo,Nuria Huertas-González,Clara Horcajo-Gómez,M Angeles Vilches-Martínez,Estefanía Cantador-Pavón,Maria Sastre-Real
PURPOSE to determine the yield of Video-Electroencephalogram (VEEG) in the first 24 h in patients with a first unprovoked seizure and normal neurological examination, laboratory findings, and cranial CT scans. METHODS we analyzed retrospectively the yield of VEEG performed in these patients in the emergency department. All the patients were subsequently seen in the Epilepsy Clinic, and the epilepsy
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Determinants of felt-stigma in adolescents with epilepsy: Is it the same story? Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-03 Nuran Aydemir,Özüm Karya Sakman,Şakir Delil,Çiğdem Özkara
PURPOSE The present study aimed to investigate previously researched variables in adult people with epilepsy (PWE), which include felt stigma, perceived overprotection, concealment of epilepsy, and epilepsy-related concerns for adolescents with epilepsy (AWE). Another goal was to determine the reported levels of these variables and explore the relationships among them, as well as their associations
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Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-02 Sarah E Buerki,Cordula Haas,Jacqueline Neubauer
PURPOSE Genetic studies in sudden infant death syndrome (SIDS) and sudden unexplained death (SUD) cohorts have indicated that cardiovascular diseases might have contributed to sudden unexpected death in 20-35 % of autopsy-negative cases. Sudden unexpected death can also occur in people with epilepsy, termed as sudden unexpected death in epilepsy (SUDEP). The pathophysiological mechanisms of SUDEP are
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Prevalence and nature of patient-reported antiseizure medication side effects in a Swedish regional multi-center study. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-11-02 Johan Zelano,Olha Nika,Fredrik Asztely,David Larsson,Klara Andersson,Kerstin Andrén
PURPOSE Side effects is one of the major clinical problems in epilepsy care. We assessed the prevalence of ASM side effects in participants in a large regional multicenter observational study in western Sweden and aimed to identify risk factors and inventory the nature of side effects with different ASM regimes. METHODS Cross-sectional analysis of survey answers and clinical characteristics of 406
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Advice following a possible first seizure: what do patients attending for EEG remember? Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-30 Orla McGonigle,Caoimh Russell,Yvonne Langan
PURPOSE This study was designed to assess the knowledge of patients following their first seizure or blackout of unknown cause. We aimed to compare the advice our cohort of patients recalled against that suggested in the current literature. BACKGROUND 5 % of the population will experience a non- febrile seizure in their lifetime. Education and advice for the patient and their family is an important
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Seizures at stroke onset: A case-control study. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-29 Ji-Won Kim,Henning R Stetefeld,Gereon R Fink,Michael P Malter
PURPOSE Seizures occurring at the immediate onset of a stroke, abbreviated "seizures at onset" (SaO), pose a diagnostic and therapeutic challenge for physicians. In this study, we report on the current clinical practice in managing stroke patients with SaO from a large tertiary stroke center in Germany. METHODS We selected all patients with SaO and acute ischemic or hemorrhagic stroke admitted to the
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DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-27 Wu-Chen Wu, Xiao-Yu Liang, Dong-Ming Zhang, Liang Jin, Zhi-Gang Liu, Xiao-Lu Zeng, Qiong-Xiang Zhai, Wei-Ping Liao, Na He, Xiang-Hong Meng
The variants are associated with abnormal brain morphology and neuromuscular disorders that are accompanied by epilepsy. This study aimed to explore the relationship between variants and epilepsy. Trios-based whole-exome sequencing was performed on patients with epilepsy. Previously reported epilepsy-related variants were systematically reviewed to analyse genotype-phenotype correlation. The variants
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Myoclonic status epilepticus in non-progressive encephalopathies within the GRIN2A-associated epilepsy-aphasia spectrum. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-26 Adnan Deniz,Defne Alikılıç,Merve Öztürk,Ömer Karaca,Ayfer Sakarya Güneş,Bülent Kara
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A case of drug-resistant epilepsy and autism with de novo SLC6A8 gene variant. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-23 David Horvat,Matthew Kaminski,Yitao Ma
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SCAF4 variants are associated with epilepsy with neurodevelopmental disorders Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-21 Yuanyuan Hu, Bingbing Zhang, Li Chen, Jing He, Letian Yang, Xuqin Chen
The genetic causes of epilepsy with unknown etiology in most patients remain unknown. The aim of this study was to elucidate the phenotype of -related epilepsy. Trio-based whole-exome sequencing was performed in patients with epilepsy. Silico programs and protein modeling were employed to predict the damaging of variants. Previously reported variants were systematically reviewed to analyze the genotype-phenotype
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Reply to Letter to the Editor regarding our report titled Incidence, severity and outcomes of COVID-19 in age and gender matched adults with and without epilepsy in Moscow: A historical cohort study. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-19 Flora Rider,W Allen Hauser,Alexander Yakovlev,Alexander Shpak,Alla Guekht
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Reduced total number of enlarged perivascular spaces in post-traumatic epilepsy patients with unilateral lesions - a feasibility study. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-13 Gernot Hlauschek,Morten I Lossius,Daniel L Schwartz,Lisa C Silbert,Amelia J Hicks,Jennie L Ponsford,Lucy Vivash,Benjamin Sinclair,Patrick Kwan,Terrence J O'Brien,Sandy R Shultz,Meng Law,Gershon Spitz
BACKGROUND We investigated the value of automated enlarged perivascular spaces (ePVS) quantification to distinguish chronic traumatic brain injury (TBI) patients with post-traumatic epilepsy (PTE+) from chronic TBI patients without PTE (PTE-) in a feasibility study. METHODS Patients with and without PTE were recruited and underwent an MRI post-TBI. Multimodal auto identification of ePVS algorithm was
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Evolution of antiseizure medication use and cost in the United States of America 2006-2021. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-10 Iván Sánchez Fernández,Marina Gaínza-Lein,Marta Amengual-Gual,Cristina Barcia Aguilar,Amanda Romeu,Alcy Torres,Rinat Jonas,Laurie M Douglass
OBJECTIVE To describe the evolution in use and cost of antiseizure medications (ASM) in the United States of America (USA). METHODS Retrospective descriptive study using the IBM MarketScan Commercial Database (data of privately-insured patients) for the years 2006 to 2021. We identified patients with epilepsy who were on ASM. We adjusted cost for inflation with the Gross Domestic Product Implicit Price
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UGT1A polymorphism rs4148324 associated with topiramate plasma concentration to dose ratio in children with epilepsy Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-06 Shifeng Wei, Xingmeng Li, Han Wu, Qiang Zhang, Yun Wu, Zhigang Zhao, Shenghui Mei, Weixing Feng
The objective of this study is to evaluate the association between genetic polymorphisms and the concentration to dose ratio of topiramate in children with epilepsy. A cohort of 163 pediatric patients with epilepsy receiving topiramate therapy were enrolled. The ultra-performance liquid chromatography-tandem mass spectrometry method was employed to measure the trough plasma concentration of topiramate
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Familial occipital lobe epilepsy associated with GABAA receptor variants. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-05 Joana Fonte,Gonçalo Videira,Rui Chorão,Joel Freitas,Inês Carrilho,João Parente Freixo,Jorge Oliveira,João Chaves
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Drug-resistant focal epilepsy in a girl with SETD5-related intellectual disability. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-03 Ranjith Kumar Manokaran,Ayako Ochi,Elizabeth Kerr,Gregory Costain,Olivia Moran,Hiroshi Otsubo,Robyn Whitney,Puneet Jain
None.
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Healthcare providers' perspectives on stigma when working with people with functional seizures. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-01 Tresan Samuels,Chrisma Pretorius
PURPOSE This study aimed to explore healthcare providers' (HCPs) perspectives and experiences of stigma when working with people with Functional Seizures (FS). Particular focus was given to understanding HCPs' experience and knowledge of FS, discovering the attitudes held by HCPs towards working with FS as a mental health condition, and exploring HCPs' views of how their stigma manifests towards people
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Prevalence and comparison of psychological trauma and stressors in functional seizure patients from a public and private hospital. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-10-01 Gabriele Vilyte,James Butler,Chrisma Pretorius
PURPOSE To date not much is known about the differences, if any, between patients with functional seizures (FS) from different socioeconomic backgrounds. We sought to compare the psychological stress and trauma profiles of patients with FS from a private and public hospital in Cape Town, South Africa. METHODS Only video-electroencephalography-confirmed patients with FS were eligible for the study.
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Seizures in Schuurs-Hoeijmakers syndrome patients may resolve spontaneously: A case report from China. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-09-29 Yun Wang,Guangshuang Lu,Yun Cheng,Jie Hu,Wu Yang
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Epidemiology of focal onset seizures in children aged >1 month to 4 years in Europe, United States, and Canada: A literature review. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-09-27 Susanne Schubert-Bast,Moninder Kaur,Lars Joeres,Nadia Foskett,Robert Roebling,Adam Strzelczyk
The present study aims to report the currently available epidemiology of focal onset seizures in children aged >1 month to 4 years with the help of a literature review. The terms 'seizure*' OR 'epilepsy' combined with pediatric and epidemiology terms were used to search Embase, PubMed, and Web of Science up to November 16, 2021. Due to the scarcity of epidemiology data on focal onset seizures, the
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Vagus nerve stimulation in refractory idiopathic generalised epilepsy: An Irish retrospective observational study. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-09-26 Javier Peña-Ceballos,Patrick B Moloney,Antonio Valentin,Cara O'Donnell,Niamh Colleran,Brenda Liggan,Breege Staunton-Grufferty,Patricia Ennis,Roger Grogan,Gerard Mullins,Daniel J Costello,Colin P Doherty,Kieron J Sweeney,Hany El Naggar,Ronan D Kilbride,Peter Widdess-Walsh,Donncha O'Brien,Norman Delanty
OBJECTIVE Refractory idiopathic generalised epilepsy (IGE; also known as genetic generalised epilepsy) is a clinical challenge due to limited available therapeutic options. While vagus nerve stimulation (VNS) is approved as an adjunctive treatment for drug-resistant focal epilepsy, there is limited evidence supporting its efficacy for refractory IGE. METHODS We conducted a single-centre retrospective
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The history of motion photography to video electroencephalography in the study of functional seizures and related seizure disorders: The first 100 years. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-09-24 Richard Ho,Enrique J Carrazana
This historical note highlights pivotal events of technology progressing between the late 19th and the 20th century to capture functional seizures and other related seizure episodes. From Charcot's initial use of photography for his study of hysteria at the Salpêtrière to the development of cinematography by Muybridge and Marey to study motion to the initial use of video electroencephalography (vEEG)
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Epilepsy-associated genes: an update Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-09-23 Meng-Wen Zhang, Xiao-Yu Liang, Jie Wang, Liang-Di Gao, Han-Jun Liao, Yun-Hua He, Yong-Hong Yi, Na He, Wei-Ping Liao, China Epilepsy Gene 1.0 Project
To provide an updated list of epilepsy-associated genes based on clinical-genetic evidence. Epilepsy-associated genes were systematically searched and cross-checked from the OMIM, HGMD, and PubMed databases up to July 2023. To facilitate the reference for the epilepsy-associated genes that are potentially common in clinical practice, the epilepsy-associated genes were ranked by the mutation number
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Epileptogenic zone in Broca's area is resectable under awake surgery in accordance with the hodotopic framework: A case report. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-09-21 Takahiro Suzuki,Tomotaka Ishizaki,Satoshi Maesawa,Miki Hashida,Manabu Mutoh,Yoshiki Ito,Takafumi Tanei,Ryuta Saito
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Incidence, severity and outcomes of COVID-19 in age and gender matched adults with and without epilepsy in Moscow: A historical cohort study. Seizure Eur. J. Epilepsy (IF 3.0) Pub Date : 2023-09-18 Flora Rider,W Allen Hauser,Alexander Yakovlev,Alexander Shpak,Alla Guekht
OBJECTIVE We hypothesized that PWE have an increased risk to acquire COVID-19. This was a historical cohort study to determine COVID-19 incidence, severity, mortality and risk factors in adults with active epilepsy (PWE) compared to residents of Moscow without epilepsy matched by age, gender, and region of residence - Moscow Community Comparisons (MCC). METHODS Subjects were derived from a cohort of