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(Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - December 1, 2023 Category: Neurology Source Type: research

Imaging biomarkers of sleep-related hypermotor epilepsy and sudden unexpected death in epilepsy: a review
Biomarkers are widely used in translational research as well as in everyday medical practice in different scenarios, including epilepsy. However, so far, a consensus on their definition and application is lacking. The profound and mutually influencing connection between sleep and epilepsy is well known and interests different epileptic syndromes either of pediatric and adult age, as well as other non-epileptic but otherwise dreadful conditions like sudden unexpected death in epilepsy (SUDEP) [1]. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - December 1, 2023 Category: Neurology Authors: Francesco Misirocchi, Anna Elisabetta Vaudano, Irene Florindo, Lucia Zinno, Alessandro Zilioli, Elisa Mannini, Liborio Parrino, Carlotta Mutti Tags: Review Source Type: research

Phenotypic Spectrum of SETD1B-Related Disorder: Myoclonic Absence Seizures and Concurrent Intellectual Disability - Insights from Two Cases
In 1969, Tassinari et al. initially described an epilepsy syndrome characterized by myoclonic absences as the main seizure type. This syndrome was later classified as part of the cryptogenic or symptomatic generalized epilepsies by the International Classification of Epilepsies and Epileptic Syndromes (ILAE, 1989) and subsequently as a non-motor generalized seizure (ILAE, 2017) [1]. Myoclonic absences are characterized by absences accompanied by myoclonic jerky movements and a tonic component leading to progressive elevation of the arms. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - November 28, 2023 Category: Neurology Authors: Ravindu Tiwari, Lakshminarayanpuram Gopal Viswanathan, Ravindranadh Mundlamuri Chowdary, Raghavendra Kenchaiah, Ajay Asranna, Sanjib Sinha Source Type: research

The First Report of a Korean/Vietnamese Child with Novel Pathogenic Variants in Asparagine Synthetase Deficiency (ASNSD) with Evolving Epilepsy Syndromes
Asparagine synthetase deficiency (ASNSD, OMIM #615574) is a rare neurometabolic disease with an autosomal recessive inheritance pattern. Initially reported in 2013 by Ruzzo and colleagues, gene sequencing is required for the diagnosis and patients from diverse ethnic origins have been reported [1]. ASNSD results in congenital microcephaly, global developmental delay, severe epilepsy, progressive brain atrophy and ventriculomegaly with mortality as high as 70% during early infancy [2]. Here, we report the first case of a Korean/Vietnamese male child with ASNSD caused by novel compound heterozygous mutations inherited from a...
Source: Seizure: European Journal of Epilepsy - November 28, 2023 Category: Neurology Authors: Seok-Jin Lee, Ji-Hoon Na, Hyunjoo Lee, Young-Mock Lee Source Type: research

Older Adults with Epilepsy and COVID-19: Outcomes in a Multi-Hospital Health System
The coronavirus disease 2019 (COVID-19) pandemic has caused disproportionate morbidity and mortality in older adults, especially those with pre-existing conditions.[1],[2],[3] While certain pre-existing conditions such as diabetes and cardiovascular disease have been associated with COVID-19 severity in older adults,[2] the contribution of other chronic diseases to mortality and morbidity have been less well studied. There is little work investigating how neurological conditions, specifically epilepsy, affect older adults with COVID-19. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - November 26, 2023 Category: Neurology Authors: Claire Ufongene, Grace Van Hyfte, Parul Agarwal, Jonathan Goldstein, Brian Mathew, Alison Navis, Louise McCarthy, Churl-Su Kwon, Kapil Gururangan, Priti Balchandani, Lara Marcuse, Georges Naasan, Anuradha Singh, James Young, Alexander Charney, Girish Nadk Source Type: research

Bilateral and synchronous “dents de scie” spikes: a highly specific EEG pattern of young adult Dravet syndrome
Dravet syndrome (DS) is a rare but severe encephalopathy with onset of seizures in a normal infant before the age of one year in a fever context. Infants develop prolonged febrile unilateral, asymmetric or apparently generalized seizures. From the second year of life on, psychomotor delays appear and refractory epilepsy develops, with several seizure types. There is no epileptic spasm, and tonic seizures are infrequent in this syndrome. No characteristic MRI change has been described. Molecular genetic analysis has shown mutations in the SCN1A (sodium channel) gene in over 80 % of cases [1]. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - November 25, 2023 Category: Neurology Authors: Philippe G élisse, Pierre Genton, Arielle Crespel Source Type: research

Diffusion Spectrum Imaging Based Semi-Automatic Optic Radiation Tractography for Vision Preservation in SEEG-guided Radiofrequency Thermocoagulation
To assess the efficacy and safety of stereoelectroencephalography (SEEG)-guided radiofrequency thermocoagulation (RFTC), using diffusion spectrum imaging (DSI) tractography to preoperatively delineate the optic radiation (OR) and reduce the risk of visual field defects (VFDs) where the epileptogenic zones (EZs) are located in or close to the eloquent visual areas. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - November 24, 2023 Category: Neurology Authors: Shiwei Song, St éphane Jean, Donghuo Deng, Yihai Dai, Xingrong Fang, Xiaoqiang Wei, Weitao Chen, Songsheng Shi, Rifeng Jiang Source Type: research

Interpretable machine learning models for predicting 90-day death in patients in the intensive care unit with epilepsy
Epilepsy, a neurological illness, impacted the world [1]. The reported lifetime prevalence of active epilepsy is 7.60 per 1000 individuals [2]. In 2019, it was estimated that there were 52.51 million people worldwide living with epilepsy (GBD estimate for 2019). In population studies in high-income nations, epilepsy has a standardized mortality rate of 2 –7 times greater than the overall population [3]. In 2016, over 126 000 epilepsy-related deaths and 5.9 million years of life were lost (YLLs) [3]. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - November 24, 2023 Category: Neurology Authors: Yingfang She, Liemin Zhou, Yide Li Source Type: research

Generalized onset seizures with focal evolution (GOFE) – a largely unknown ictal variation in genetic generalized epilepsies
The operational seizure classification by the ILAE in 2017 divides seizures into those with focal, generalized, or unknown onset [1]. Correct classification of seizures is the prerequisite to make the correct diagnosis of the epilepsy type. The ILAE defines focal seizures as “originating within networks limited to one hemisphere” whereas generalized seizures “engage bilateral networks from onset” [1]. In genetic generalized epilepsies (GGEs), however, up to one in four myoclonic seizures is asymmetrical [2,3], and at onset, every other generalized tonic–clonic seizure is characterized by an aversive head turn [4]...
Source: Seizure: European Journal of Epilepsy - November 24, 2023 Category: Neurology Authors: Frank Brandhoff, Thomas Mayer, Miriam Wienecke, Tatjana Kovacevic-Preradovic, Martin Holtkamp, Eva Breuer Source Type: research

Assessing the Performance of ChatGPT's Responses to Questions Related to Epilepsy: A Cross-Sectional Study on Natural Language Processing and Medical Information Retrieval
Epilepsy, a neurological disorder affecting approximately 1% of the global population, disrupts the brain's electrical activity and manifests as recurrent seizures of varying severity [1,2]. Although many patients manage their symptoms with various treatments including medication, diets, immunotherapy, surgery, and neuromodulatory devices, the condition can significantly impair quality of life, affecting factors such as employment, social relationships, and psychological well-being [3 –6]. Given the prevalence and impact of epilepsy, accurate and accessible information regarding the condition, including its causes, sympt...
Source: Seizure: European Journal of Epilepsy - November 22, 2023 Category: Neurology Authors: Hyun-Woo Kim, Dong-hyeon Shin, Jiyoung Kim, Gha-Hyun Lee, Jae Wook Cho Source Type: research

Clinical Letter New-Onset Epilepsy Presenting as Non-Convulsive Status Epilepticus in Mucopolysaccharidosis type II: a case report
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked lysosomal storage disease caused by a deficiency of the enzyme iduronate-2-sulfatase, which leads to the pathological accumulation of glycosaminoglycans in organs and tissues throughout the body, causing progressive multisystemic dysfunction. MPS II occurs predominantly in males and has an estimated prevalence of 1 in 100 000 male live births. The clinical presentation of MPS II is highly variable, and the disease is associated with a broad spectrum of severity. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - November 22, 2023 Category: Neurology Authors: Giulia Cannizzaro, Manuela L'Erario, Francesca Piras, Anna Rosati, Elena Procopio Source Type: research

Normalization and cross-sectional validation of an extended adverse event profile (E AEP) in a large cohort of patients with epilepsy
Anti-seizure medication (ASM) is the first-line symptomatic treatment of epilepsy. Understandingly, patients ’ and their caregivers’ primary hope and expectation regarding treatment aim is seizure control. Next in line, however, is the anticipation that seizure control will not be achievable only at the cost of adverse side effects. [1] Although patients might be willing to accept side effects in the p rospect of becoming seizure free, this willingness is slight, and it is particularly low with regard to psychiatric and cognitive side effects. (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - November 21, 2023 Category: Neurology Authors: Christoph Helmstaedter, Carolin Meschede, Sandra Mastani, Susanna Moskau-Hartmann, Michael Rademacher, Randi von Wrede, Juri-Alexander Witt Source Type: research

Predictors of elevations in fasting lipid levels in adults with epilepsy on a modified Atkins diet
Epilepsy is estimated to affect ∼68 million people worldwide with a median prevalence of 0.58% (0.27–1.24) in developed countries, 1.54% (0.48–4.96) in rural and 1.03% (0.28–3.77) in urban developing countries [1]. Roughly 1/3 of patients with epilepsy fail to respond to anti-seizure medication and have less than a 5% chan ce of seizure freedom with successive anti-seizure medication trials despite the development of over 25 different anti-seizure medications over the last century [2,3]. For these individuals with drug-resistant epilepsy, non-pharmacologic approaches including ketogenic diet therapies (KDTs) offer ...
Source: Seizure: European Journal of Epilepsy - November 20, 2023 Category: Neurology Authors: Tanya J.W. McDonald, Luisa Diaz-Arias, Diane Vizthum, Bobbie J. Henry-Barron, Mackenzie C. Cervenka Source Type: research

Predictors of elevations in fasting lipid levels in adults with epilepsy on a modified Atkins diet.
Epilepsy is estimated to affect ∼68 million people worldwide with a median prevalence of 0.58% (0.27-1.24) in developed countries, 1.54% (0.48-4.96) in rural and 1.03% (0.28-3.77) in urban developing countries[1]. Roughly 1/3 of patients with epilepsy fail to respond to anti-seizure medication and have less than a 5% chance of s eizure freedom with successive anti-seizure medication trials despite the development of over 25 different anti-seizure medications over the last century[2,3]. For these individuals with drug-resistant epilepsy, non-pharmacologic approaches including ketogenic diet therapies (KDTs) offer needed a...
Source: Seizure: European Journal of Epilepsy - November 20, 2023 Category: Neurology Authors: Tanya J.W. McDonald, Luisa Diaz-Arias, Diane Vizthum, Bobbie J. Henry-Barron, Mackenzie C. Cervenka Source Type: research

Clinician Views Regarding Early Surgery for Paediatric Epilepsy
Epilepsy is a major contributing factor to chronic disease burden in the paediatric population, with between 0.5-2% of children living with the condition globally [1,2]. Of those, approximately one in three have drug-resistant epilepsy (DRE) [3,4], defined as failure to control seizures using two adequate trials of tolerated, suitable antiseizure medications (ASMs) [5]. The majority of patients with MRI detectable epileptogenic lesions, focal cortical dysplasias (FCDs) and long-term epilepsy associated tumours (LEATs), will progress to DRE, with figures of 81% and 94% respectively reported in the literature [6,7]. (Source:...
Source: Seizure: European Journal of Epilepsy - November 20, 2023 Category: Neurology Authors: Omar Salim, Aswin Chari, Ido Ben Zvi, Rachel Batchelor, Torsten Baldeweg, J. Helen Cross, Martin Tisdall Source Type: research