journal
https://read.qxmd.com/read/38491959/clinical-and-molecular-characterization-of-patients-with-ywhag-related-epilepsy
#1
JOURNAL ARTICLE
Valentina Cetica, Tiziana Pisano, Gaetan Lesca, Dana Marafi, Laura Licchetta, Florence Riccardi, Davide Mei, Hon-Yin B Chung, Allan Bayat, Meena Balasubramanian, Daniel H Lowenstein, Milda Endzinienė, Maha Alotaibi, Nathalie Villeneuve, Julia Jacobs, Bertrand Isidor, Roberta Solazzi, Nicolette S den Hollander, Dragan Marjanovic, Christelle Rougeot-Jung, Julien Jung, Marion Lesieur-Sebellin, Andrea Accogli, Vincenzo Salpietro, Nebal W Saadi, Eleni Panagiotakaki, Thomas Foiadelli, Sylvia Redon, Meng-Han Tsai, Francesca Bisulli, Trine B Hammer, James R Lupski, Elena Parrini, Renzo Guerrini
OBJECTIVE: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy. METHODS: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG...
March 16, 2024: Epilepsia
https://read.qxmd.com/read/38491957/somatic-variants-as-a-cause-of-drug-resistant-epilepsy-including-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis
#2
JOURNAL ARTICLE
Robert J Carton, Michael G Doyle, Hugh Kearney, Charles A Steward, Nicholas J Lench, Anthony Rogers, Erin L Heinzen, Seamus McDonald, Joanna Fay, Austin Lacey, Alan Beausang, Jane Cryan, Francesca Brett, Hany El-Naggar, Peter Widdess-Walsh, Daniel Costello, Ronan Kilbride, Colin P Doherty, Kieron J Sweeney, Donncha F O'Brien, David C Henshall, Norman Delanty, Gianpiero L Cavalleri, Katherine A Benson
OBJECTIVE: The contribution of somatic variants to epilepsy has recently been demonstrated, particularly in the etiology of malformations of cortical development. The aim of this study was to determine the diagnostic yield of somatic variants in genes that have been previously associated with a somatic or germline epilepsy model, ascertained from resected brain tissue from patients with multidrug-resistant focal epilepsy. METHODS: Forty-two patients were recruited across three categories: (1) malformations of cortical development, (2) mesial temporal lobe epilepsy with hippocampal sclerosis, and (3) nonlesional focal epilepsy...
March 16, 2024: Epilepsia
https://read.qxmd.com/read/38491955/modification-of-brain-conductivity-in-human-focal-epilepsy-a-model-based-estimation-from-stereoelectroencephalography
#3
JOURNAL ARTICLE
Stanislas Lagarde, Julien Modolo, Maxime Yochum, Andres Carvallo, Alice Ballabeni, Didier Scavarda, Romain Carron, Nathalie Villeneuve, Fabrice Bartolomei, Fabrice Wendling
OBJECTIVE: We have developed a novel method for estimating brain tissue electrical conductivity using low-intensity pulse stereoelectroencephalography (SEEG) stimulation coupled with biophysical modeling. We evaluated the hypothesis that brain conductivity is correlated with the degree of epileptogenicity in patients with drug-resistant focal epilepsy. METHODS: We used bipolar low-intensity biphasic pulse stimulation (.2 mA) followed by a postprocessing pipeline for estimating brain conductivity...
March 16, 2024: Epilepsia
https://read.qxmd.com/read/38491947/diet-composition-and-sterilization-modifies-intestinal-microbiome-diversity-and-burden-of-theiler-s-virus-infection-induced-acute-seizures
#4
JOURNAL ARTICLE
Dannielle K Zierath, Stephanie Davidson, Jonathan Manoukian, Kevin M Knox, H Steve White, Stacey Meeker, Aaron Ericsson, Melissa Barker-Haliski
OBJECTIVE: Brain infection with Theiler's murine encephalomyelitis virus (TMEV) in C57BL/6J mice can induce acquired epileptogenesis. Diet alters acute seizure incidence in TMEV-infected mice; yet it is unclear whether intestinal dysbiosis may also impact acute or chronic behavioral comorbidities. This study thus assessed the impact of diet formulation and sterilization on acute seizure presentation, gut microbiome composition, and epilepsy-related chronic behavioral comorbidities. METHODS: Baseline fecal samples were collected from male C57BL/6J mice (4- to 5-weeks-old; Jackson Labs) upon facility arrival...
March 16, 2024: Epilepsia
https://read.qxmd.com/read/38488289/why-did-my-seizures-start-now-influences-of-lesion-connectivity-and-genetic-etiology-on-age-at-seizure-onset-in-focal-epilepsy
#5
JOURNAL ARTICLE
Emma Macdonald-Laurs, Aaron E L Warren, Richard J Leventer, A Simon Harvey
OBJECTIVE: Patients with focal, lesional epilepsy present with seizures at variable ages. Larger lesion size and overlap with sensorimotor or default mode network (DMN) have been associated with younger age at seizure onset in cohorts with mixed types of focal cortical dysplasia (FCD). Here, we studied determinants of age at seizure onset in patients with bottom-of-sulcus dysplasia (BOSD), a discrete type of FCD with highly localized epileptogenicity. METHODS: Eighty-four patients (77% operated) with BOSD were studied...
March 15, 2024: Epilepsia
https://read.qxmd.com/read/38470337/specific-consistency-score-for-rational-selection-of-epilepsy-resection-surgery-candidates
#6
JOURNAL ARTICLE
Maya Tojima, Akihiro Shimotake, Shuichiro Neshige, Tadashi Okada, Katsuya Kobayashi, Kiyohide Usami, Masao Matsuhashi, Masayuki Honda, Hirofumi Takeyama, Takefumi Hitomi, Takeshi Yoshida, Atsushi Yokoyama, Yasutaka Fushimi, Tsukasa Ueno, Yukihiro Yamao, Takayuki Kikuchi, Takao Namiki, Yoshiki Arakawa, Ryosuke Takahashi, Akio Ikeda
OBJECTIVE: Degree of indication for epilepsy surgery is determined by taking multiple factors into account. This study aimed to investigate the usefulness of the Specific Consistency Score (SCS), a proposed score for focal epilepsy to rate the indication for epilepsy focal resection. METHODS: This retrospective cohort study included patients considered for resective epilepsy surgery in Kyoto University Hospital from 2011 to 2022. Plausible epileptic focus was tentatively defined...
March 12, 2024: Epilepsia
https://read.qxmd.com/read/38470335/association-of-midazolam-route-of-administration-and-need-for-recurrent-dosing-among-children-with-seizures-cared-for-by-emergency-medical-services
#7
JOURNAL ARTICLE
Sriram Ramgopal, Sylvia Owusu-Ansah, Remle P Crowe, Masashi Okubo, Christian Martin-Gill
OBJECTIVE: National guidelines in the United States recommend the intramuscular and intranasal routes for midazolam for the management of seizures in the prehospital setting. We evaluated the association of route of midazolam administration with the use of additional benzodiazepine doses for children with seizures cared for by emergency medical services (EMS). METHODS: We conducted a retrospective cohort study from a US multiagency EMS dataset for the years 2018-2022, including children transported to the hospital with a clinician impression of seizures, convulsions, or status epilepticus, and who received an initial correct weight-based dose of midazolam (...
March 12, 2024: Epilepsia
https://read.qxmd.com/read/38470175/comprehensive-phenotypes-of-patients-with-syngap1-related-disorder-reveals-high-rates-of-epilepsy-and-autism
#8
JOURNAL ARTICLE
Kimberly Wiltrout, Elise Brimble, Annapurna Poduri
OBJECTIVE: To delineate the comprehensive phenotypic spectrum of SYNGAP1-related disorder in a large patient cohort aggregated through a digital registry. METHODS: We obtained de-identified patient data from an online registry. Data were extracted from uploaded medical records. We reclassified all SYNGAP1 variants using American College of Medical Genetics criteria and included patients with pathogenic/likely pathogenic (P/LP) single nucleotide variants or microdeletions incorporating SYNGAP1...
March 12, 2024: Epilepsia
https://read.qxmd.com/read/38470097/myd88-mediated-signaling-is-critical-for-the-generation-of-seizure-responses-and-cognitive-impairment-in-a-model-of-anti-n-methyl-d-aspartate-receptor-encephalitis
#9
JOURNAL ARTICLE
Olga Taraschenko, Howard S Fox, Ember Eldridge, Priscilla Heliso, Fetweh Al-Saleem, Scott Dessain, George Casale, Gregory Willcockson, Kayley Anderson, Wenyi Wang, Raymond Dingledine
OBJECTIVE: We previously demonstrated that interleukin-1 receptor-mediated immune activation contributes to seizure severity and memory loss in anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. In the present study, we assessed the role of the myeloid differentiation primary response gene 88 (MyD88), an adaptor protein in Toll-like receptor signaling, in the key phenotypic characteristics of anti-NMDAR encephalitis. METHODS: Monoclonal anti-NMDAR antibodies or control antibodies were infused into the lateral ventricle of MyD88 knockout mice (MyD88-/- ) and control C56BL/6J mice (wild type [WT]) via osmotic minipumps for 2 weeks...
March 12, 2024: Epilepsia
https://read.qxmd.com/read/38469885/effect-of-levodopa-on-pathological-gait-in-dravet-syndrome-a-randomized-crossover-trial-using-three-dimensional-gait-analysis
#10
JOURNAL ARTICLE
Takeshi Suzuki, Jun Natsume, Yuji Ito, Tadashi Ito, Koji Noritake, Fumie Kinoshita, Tatsuya Fukasawa, Takeshi Tsuji, Kazuya Itomi, Hirokazu Kurahashi, Kazuo Kubota, Tohru Okanishi, Shinji Saitoh, Hideshi Sugiura, Hirohisa Watanabe, Yoshiyuki Takahashi, Hiroyuki Kidokoro
OBJECTIVE: Individuals with Dravet syndrome (DS) exhibit progressive gait disturbance. No quantitative studies have been conducted to evaluate the effectiveness of medication for gait disturbance. Therefore, the aim of this study was to evaluate the effectiveness of levodopa for pathological gait in people with DS using three-dimensional gait analysis (3DGA). METHODS: Nine individuals with DS, ages 6-20 years, participated in a crossover study of levodopa and were randomly assigned to the levodopa precedence or no levodopa precedence group...
March 12, 2024: Epilepsia
https://read.qxmd.com/read/38456647/a-comprehensive-systematic-literature-review-of-the-burden-of-illness-of-lennox-gastaut-syndrome-on-patients-caregivers-and-society
#11
REVIEW
J Helen Cross, Arturo Benítez, Jeannine Roth, J Scott Andrews, Drishti Shah, Emma Butcher, Aimee Jones, Joseph Sullivan
Fully elucidating the burden that Lennox-Gastaut syndrome (LGS) places on individuals with the disease and their caregivers is critical to improving outcomes and quality of life (QoL). This systematic literature review evaluated the global burden of illness of LGS, including clinical symptom burden, care requirements, QoL, comorbidities, caregiver burden, economic burden, and treatment burden (PROSPERO ID: CRD42022317413). MEDLINE, Embase, and the Cochrane Library were searched for articles that met predetermined criteria...
March 8, 2024: Epilepsia
https://read.qxmd.com/read/38456606/transient-postictal-dysphagia-in-older-adults-with-focal-structural-epilepsy
#12
JOURNAL ARTICLE
Sriramya Lapa, Anna Schwingshackl, Ulrike Frank, Felix Rosenow, Catrin Mann, Adam Strzelczyk
OBJECTIVE: Seizures can cause transient neurological symptoms, such as hemiparesis and aphasia. However, temporary swallowing changes leading to postictal dysphagia have not been previously described. Therefore, this study evaluated the presence of swallowing disorders following seizure. In addition, dysphagia severity and duration of any recovery from dysphagic symptoms were investigated. METHODS: The local clinical database of all fiberoptic endoscopic evaluation of swallowing (FEES) examinations performed from 2008 to 2019 was screened for patients diagnosed with seizures, but excluding patients with intensive care unit admission or intubation >24 h...
March 8, 2024: Epilepsia
https://read.qxmd.com/read/38456604/delays-in-the-diagnosis-and-surgical-treatment-of-drug-resistant-epilepsy-a-cohort-study
#13
JOURNAL ARTICLE
Justin M Campbell, Samantha Yost, Diwas Gautam, Alysha Herich, David Botros, Mason Slaughter, Michael Chodakiewitz, Amir Arain, Angela Peters, Sindhu Richards, Blake Newman, Brian Johnson, Shervin Rahimpour, Ben Shofty
OBJECTIVE: Delay in referral for epilepsy surgery of patients with drug-resistant epilepsy (DRE) is associated with decreased quality of life, worse surgical outcomes, and increased risk of sudden unexplained death in epilepsy (SUDEP). Understanding the potential causes of delays in referral and treatment is crucial for optimizing the referral and treatment process. We evaluated the treatment intervals, demographics, and clinical characteristics of patients referred for surgical evaluation at our level 4 epilepsy center in the U...
March 8, 2024: Epilepsia
https://read.qxmd.com/read/38446133/a-global-update-on-cenobamate-based-on-real-world-experience-in-over-100%C3%A2-000-patients
#14
LETTER
Louis Ferrari, William E Rosenfeld, Marc Kamin
No abstract text is available yet for this article.
March 6, 2024: Epilepsia
https://read.qxmd.com/read/38441374/epilepsy-and-the-risk-of-covid-19-related-hospitalization-and-death-a-population-study
#15
JOURNAL ARTICLE
Huw Strafford, Joe Hollinghurst, Arron S Lacey, Ashley Akbari, Alan Watkins, Jan Paterson, Daniel Jennings, Ronan A Lyons, H Robert Powell, Michael P Kerr, Richard F Chin, William O Pickrell
OBJECTIVE: People with epilepsy (PWE) may be at an increased risk of severe COVID-19. It is important to characterize this risk to inform PWE and for future health and care planning. We assessed whether PWE were at higher risk of being hospitalized with, or dying from, COVID-19. METHODS: We performed a retrospective cohort study using linked, population-scale, anonymized electronic health records from the SAIL (Secure Anonymised Information Linkage) databank. This includes hospital admission and demographic data for the complete Welsh population (3...
March 5, 2024: Epilepsia
https://read.qxmd.com/read/38441332/health-care-utilization-and-mortality-for-people-with-epilepsy-during-covid-19-a-population-study
#16
JOURNAL ARTICLE
Huw Strafford, Joe Hollinghurst, Arron S Lacey, Ashley Akbari, Alan Watkins, Jan Paterson, Daniel Jennings, Ronan A Lyons, H Robert Powell, Michael P Kerr, Richard F Chin, William O Pickrell
OBJECTIVE: This study was undertaken to characterize changes in health care utilization and mortality for people with epilepsy (PWE) during the COVID-19 pandemic. METHODS: We performed a retrospective study using linked, individual-level, population-scale anonymized health data from the Secure Anonymised Information Linkage databank. We identified PWE living in Wales during the study "pandemic period" (January 1, 2020-June 30, 2021) and during a "prepandemic" period (January 1, 2016-December 31, 2019)...
March 5, 2024: Epilepsia
https://read.qxmd.com/read/38441298/ring-20-syndrome-a-call-to-action
#17
LETTER
William D James, Rudolf Roth, Mark Fitzgerald
No abstract text is available yet for this article.
March 5, 2024: Epilepsia
https://read.qxmd.com/read/38436479/evidence-for-interictal-blood-brain-barrier-dysfunction-in-people-with-epilepsy
#18
JOURNAL ARTICLE
Johannes T Reiter, Freya Schulte, Tobias Bauer, Bastian David, Christoph Endler, Alexander Isaak, Fabiane Schuch, Felix Bitzer, Juri-Alexander Witt, Elke Hattingen, Ralf Deichmann, Ulrike Attenberger, Albert J Becker, Christoph Helmstaedter, Alexander Radbruch, Rainer Surges, Alon Friedman, Theodor Rüber
OBJECTIVE: Interictal blood-brain barrier dysfunction in chronic epilepsy has been demonstrated in animal models and pathological specimens. Ictal blood-brain barrier dysfunction has been shown in humans in vivo using an experimental quantitative magnetic resonance imaging (MRI) protocol. Here, we hypothesized that interictal blood-brain barrier dysfunction is also present in people with drug-resistant epilepsy. METHODS: Thirty-nine people (21 females, mean age at MRI ± SD = 30 ± 8 years) with drug-resistant epilepsy were prospectively recruited and underwent interictal T1-relaxometry before and after administration of a paramagnetic contrast agent...
March 4, 2024: Epilepsia
https://read.qxmd.com/read/38430119/second-line-immunotherapy-in-new-onset-refractory-status-epilepticus
#19
REVIEW
Aurélie Hanin, Eyal Muscal, Lawrence J Hirsch
Several pieces of evidence suggest immune dysregulation could trigger the onset and modulate sequelae of new onset refractory status epilepticus (NORSE), including its subtype with prior fever known as febrile infection-related epilepsy syndrome (FIRES). Consensus-driven recommendations have been established to guide the initiation of first- and second-line immunotherapies in these patients. Here, we review the literature to date on second-line immunotherapy for NORSE/FIRES, presenting results from 28 case reports and series describing the use of anakinra, tocilizumab, or intrathecal dexamethasone in 75 patients with NORSE...
March 2, 2024: Epilepsia
https://read.qxmd.com/read/38426252/computer-vision-for-automated-seizure-detection-and-classification-a-systematic-review
#20
REVIEW
Brandon M Brown, Aidan M H Boyne, Adel M Hassan, Anthony K Allam, R James Cotton, Zulfi Haneef
Computer vision (CV) shows increasing promise as an efficient, low-cost tool for video seizure detection and classification. Here, we provide an overview of the fundamental concepts needed to understand CV and summarize the structure and performance of various model architectures used in video seizure analysis. We conduct a systematic literature review of the PubMed, Embase, and Web of Science databases from January 1, 2000 to September 15, 2023, to identify the strengths and limitations of CV seizure analysis methods and discuss the utility of these models when applied to different clinical seizure phenotypes...
March 1, 2024: Epilepsia
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