journal
https://read.qxmd.com/read/36965077/disadvantage-and-neurocognitive-comorbidities-in-childhood-idiopathic-epilepsies
#1
JOURNAL ARTICLE
William A Schraegle, Rebecca F Slomowitz, Carson Gundlach, David A Hsu, Dace N Almane, Carl E Stafstrom, Michael Seidenberg, Jana E Jones, Bruce P Hermann
OBJECTIVE: To characterize the relationship between neighborhood disadvantage on cognitive function as well as clinical, sociodemographic, and family factors in children with new onset idiopathic epilepsy and healthy controls. METHODS: Research participants were 288 children aged 8-18 years with recent onset epilepsy (CWE, n = 182; mean age = 12.2 <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"><mml:mo>±</mml:mo></mml:math> 3...
March 25, 2023: Epilepsia
https://read.qxmd.com/read/36961285/the-presence-and-severity-of-epilepsy-coincide-with-reduced-gaba-and-cortical-excitatory-markers-in-ssadh-deficiency
#2
JOURNAL ARTICLE
Itay Tokatly Latzer, Mariarita Bertoldi, Melissa L DiBacco, Erland Arning, Melissa Tsuboyama, Paul MacMullin, Daniyal Sachee, Alexander Rotenberg, Henry H C Lee, Deniz Aygun, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Jean-Baptiste Roullet, K Michael Gibson, Phillip L Pearl
OBJECTIVE: Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inherited metabolic disorder caused by a defect of ɣ-aminobutyrate (GABA) catabolism. Despite the resultant hyperGABAergic environment facilitated by the metabolic defect, individuals with this disorder have a paradoxically high prevalence of epilepsy. We aimed to study the characteristics of epilepsy in SSADHD and its concordance with GABA-related metabolites and neurophysiologic markers of cortical excitation...
March 24, 2023: Epilepsia
https://read.qxmd.com/read/36961094/treatment-of-norse-fires-with-tocilizumab-in-a-child-and-a-young-adult
#3
JOURNAL ARTICLE
Marie-Laure Girardin, Thomas Flamand, Ombeline Roignot, Marie-Therese Abi Warde, Veronique Mutschler, Paul Voulleminot, Max Guillot, Vera Dinkelacker, Anne De Saint-Martin
New Onset Refractory Status Epilepticus (NORSE) is a rare and devastating condition occurring in a previously healthy patient. It is called Febrile Infection Related Epilepsy Syndrome (FIRES) when preceded by a febrile infection. It often leads to intensive care treatment, including antiseizure drugs in combination with anaesthetic agents, and sometimes ketogenic diet. The mortality rate is high, and severe epileptic and neuropsychiatric sequelae are usually observed. Based on the possible role of neuroinflammation, intravenous immunoglobulin, corticosteroids and immunomodulatory treatment (anti-IL1, IL6) can be added...
March 24, 2023: Epilepsia
https://read.qxmd.com/read/36960686/pentanucleotide-repeat-related-disorders-genetics-and-bioinformatic-discovery-and-detection
#4
JOURNAL ARTICLE
Isabel Silveira, Mark F Bennett
In recent years a large group of familial epilepsies and hereditary ataxias is emerging, caused by an extraordinary type of a novel pentanucleotide repeat expansion that has arisen in a preexisting non-pathogenic repeat tract. Remarkably, these insertions have occurred in non-coding regions of genes expressed in the cerebellum, but with highly diverse functions. These conditions, clinically very heterogeneous, may remain underdiagnosed in patients with atypical phenotypes and age of onset. They share, however, many genetic and phenotypic features and discovery or detection of their pathogenic pentanucleotide repeats for diagnostic purposes can be achieved using recent bioinformatic methods...
March 24, 2023: Epilepsia
https://read.qxmd.com/read/36947106/current-treatment-options-for-familial-adult-myoclonus-epilepsy
#5
JOURNAL ARTICLE
Antonietta Coppola, Raffaele Dubbioso, Claudia Cuccurullo, Laura Licchetta, Mar Carreno, Edouard Hirsch, Leonilda Bilo
Familial Adult Myoclonus Epilepsy (FAME) is a genetic condition characterized by the occurrence of cortical tremor, myoclonus and epilepsy. To date, there is neither a curative nor a preventive treatment for FAME. Indeed, clinical management is essentially symptomatic and based on antiseizure medications (ASMs). The choice of the correct therapeutic option is limited to ASMs that have both an antiseizure and anti-myoclonic effect such as valproate (VPA), levetiracetam (LEV), benzodiazepines (BDZs) and perampanel (PER)...
March 22, 2023: Epilepsia
https://read.qxmd.com/read/36934317/identification-of-patients-with-epilepsy-using-automated-electronic-health-records-phenotyping
#6
JOURNAL ARTICLE
Marta Fernandes, Aidan Cardall, Jin Jing, Wendong Ge, Lidia M V R Moura, Claire Jacobs, Christopher McGraw, Sahar F Zafar, M Brandon Westover
OBJECTIVES: Unstructured data present in electronic health records (EHR) is a rich source of medical information, however its abstraction is labor intensive. Automated EHR phenotyping (AEP) can reduce the need for manual chart review. We present an AEP model that is designed to automatically identify patients diagnosed with epilepsy. METHODS: The ground truth for model training and evaluation was captured from a combination of structured questionnaires filled out by physicians for a subset of patients and manual chart review using customized software...
March 19, 2023: Epilepsia
https://read.qxmd.com/read/36931823/a-comparison-of-statistical-versus-clinical-classifiers-of-seizure-clustering-in-women-with-catamenial-and-non-catamenial-epilepsy
#7
JOURNAL ARTICLE
Andrew G Herzog, Enrique Carrazana, Adrian L Rabinowicz
OBJECTIVE: We assessed whether 1) women with statistical clustering of daily seizure counts (DSC) or seizure intervals (SI) also showed clinical clustering, defined separately by ≥2 (≥2-SC) and ≥3 (≥3-SC) seizures on any single day, and 2) how these classifiers might apply to catamenial epilepsy. METHODS: This is a retrospective case-control analysis of data from 50 women with epilepsy (WWE). We assessed the relationships of the 4 classifiers to each other and to catamenial versus non-catamenial epilepsy using chi-square, correlation, logistic regression and ROC analyses...
March 17, 2023: Epilepsia
https://read.qxmd.com/read/36929095/primidone-improves-symptoms-in-trpm3-linked-dee-swas
#8
JOURNAL ARTICLE
Lena-Luise Becker, Denise Horn, Felix Boschann, Evelien Van Hoeymissen, Thomas Voets, Joris Vriens, Christine Prager, Angela M Kaindl
Developmental and epileptic encephalopathy (DEE) with continuous spike-and-wave activation in sleep (CSWS) or DEE-SWAS is an age-dependent disease, often accompanied by a decline in cognitive abilities. Early successful treatment of CSWS is associated with a better cognitive outcome. We retrospectively analyzed the clinical, electrophysiological, radiological, and genetic data of children with DEE-SWAS associated with melastatin-related transient receptor type 3 gene (TRPM3) missense variants. We report two unrelated children with pharmaco-resistant DEE-SWAS and developmental delay/regression and different heterozygous de novo missense variants in the TRPM3 gene (NM_001366145...
March 16, 2023: Epilepsia
https://read.qxmd.com/read/36928628/scalp-ripple-rates-for-rapid-epilepsy-differentiation-and-seizure-activity-assessment-applicability-and-influential-factors
#9
JOURNAL ARTICLE
Xianyue Liu, Yinchao Li, Xiaonan Li, Shuda Chen, Lisen Sui, Zhengwei Su, Liming Cheng, Ke Zhao, Man Yang, Huanling Lai, Yue Xing, Yue Gui, Jiaoyang Wang, Xiaofeng Yang, Liemin Zhou
OBJECTIVE: We aim to determine whether automatically detected ripple rate (ADRR) of ten-minute scalp electroencephalography (EEG) during slow-wave sleep can be a useful tool for rapid epilepsy differentiation and seizure activity assessment, and analyze the clinical factors that may affect it. METHODS: We retrospectively included 336 patients who underwent long-term video EEG with a sampling rate ≥1000 Hz, and three groups were established based on their final clinical diagnosis (non-epilepsy; non-active epilepsy [epilepsy being seizure free for at least one year]; and active epilepsy [epilepsy with one or more seizures in the past year])...
March 16, 2023: Epilepsia
https://read.qxmd.com/read/36923995/health-related-quality-of-life-in-adults-with-drug-resistant-focal-epilepsy-treated-with-modified-atkins-diet-in-a-randomized-clinical-trial
#10
JOURNAL ARTICLE
Magnhild Kverneland, Karl Otto Nakken, Dag Hofoss, Annette Holth Skogan, Per Ole Iversen, Kaja Kristine Selmer, Morten Ingvar Lossius
Ketogenic diet, a high-fat, low-carbohydrate diet, is an established treatment for patients with severe epilepsy. We have previously reported a moderate reduction in seizure frequency after treatment with a modified Atkins diet. This study aimed to see whether dietary therapy impacts the patients' health-related quality of life (HRQOL). In a randomized controlled design, we compared the change in self-reported HRQOL among adults with difficult-to-treat epilepsy after a 12-week diet intervention. Thirty-nine patients with drug-resistant focal epilepsy (age 16 - 65 years) were randomized to eat a modified Atkins diet with maximum 16 grams of carbohydrate per day (diet group, n=19) or to continue eating habitual diet (control group, n=20)...
March 15, 2023: Epilepsia
https://read.qxmd.com/read/36916836/the-need-for-an-individualized-approach-to-what-is-considered-a-clinically-significant-reduction-in-seizure-frequency-a-patient-s-perspective
#11
JOURNAL ARTICLE
https://read.qxmd.com/read/36916834/metyrapone-abolishes-spike-wave-discharge-seizures-in-gaers-by-reducing-stress-hormones
#12
JOURNAL ARTICLE
Gabi Dezsi, Ezgi Ozturk, Georgia Harris, Cornelius Paul, Terence J O'Brien, Nigel C Jones
OBJECTIVE: Stress is one of the most commonly reported triggers for seizures in patients with epilepsy, although the mechanisms which mediate this effect are not established. The clinical evidence supporting this is derived from patient's subjective experience of stress, and how this influences their own seizures. Animal models can be used to explore this phenomenon in controlled environments, free from subjective bias. Here we used GAERS, a genetic rat model of absence epilepsy, to explore the influence of stress and stress hormones on spontaneous seizures...
March 14, 2023: Epilepsia
https://read.qxmd.com/read/36906958/stimulation-better-targets-fast-ripple-generating-networks-in-super-responders-to-the-responsive-neurostimulator-system-rns
#13
JOURNAL ARTICLE
Shennan Aibel Weiss, Dawn Eliashiv, John Stern, Daniel Rubinstein, Itzhak Fried, Chengyuan Wu, Ashwini Sharan, Jerome Engel, Richard Staba, Michael R Sperling
No abstract text is available yet for this article.
March 12, 2023: Epilepsia
https://read.qxmd.com/read/36897767/leveraging-expertise-and-optimizing-clinical-research-initial-success-of-a-pediatric-epilepsy-surgery-collaborative
#14
JOURNAL ARTICLE
Madison M Berl, Jennifer I Koop, Alyssa Ailion, Donald J Bearden, Katrina Boyer, Crystal M Cooper, Amanda M Decrow, Priscilla H Duong, Patricia Espe-Pfeifer, Marsha Gabriel, Elise Hodges, David F Marshall, Kelly A McNally, Andrew E Molnar, Emily K Olsen, Kim E Ono, Kristina E Patrick, Brianna M Paul, Jonathan Romain, Leigh N Sepeta, Rebecca L H Stilp, Greta N Wilkening, Michael Zaccariello, Frank Zelko, M Scott Perry
OBJECTIVE: Improve data-driven research to inform clinical decision-making with pediatric epilepsy surgery patients by expanding the Pediatric Epilepsy Research Consortium Epilepsy Surgery Workgroup to include neuropsychological data. This paper reports on the process and initial success of this effort and characterizes the cognitive functioning of the largest multi-site pediatric epilepsy surgery cohort in the United States. METHODS: Pediatric neuropsychologists from 18 institutions completed surveys regarding neuropsychological practice and impact of involvement in the collaborative...
March 10, 2023: Epilepsia
https://read.qxmd.com/read/36897228/passive-and-active-markers-of-cortical-excitability-in-epilepsy
#15
JOURNAL ARTICLE
Georgia Ramantani, Brandon Westover, Stephen Gliske, Johannes Sarnthein, Sridevi Sarma, Yujiang Wang, Maxime O Baud, William Stacey, Erin C Conrad
EEG has been the primary diagnostic tool in clinical epilepsy for nearly a century. Its review is performed using qualitative clinical methods that have changed little over time. However, the intersection of higher resolution digital EEG and analytical tools developed in the last decade invites a re-exploration of relevant methodology. In addition to the established spatial and temporal markers of spikes and high frequency oscillations, novel markers involving advanced post-processing and active probing of the interictal EEG are gaining ground...
March 10, 2023: Epilepsia
https://read.qxmd.com/read/36892496/blood-brain-barrier-damage-and-new-onset-refractory-status-epilepticus-an-exploratory-study-using-dynamic-contrast-enhanced-mri
#16
JOURNAL ARTICLE
Huiping Li, Xian Liu, Ruihong Wang, Aili Lu, Zhaohui Ma, Shibiao Wu, Hongji Lu, Yaming Du, Kan Deng, Lixin Wang, Fang Yuan
OBJECTIVES: To characterize the blood-brain barrier (BBB) dysfunction in patients with new-onset refractory status epilepticus (NORSE) using dynamic contrast-enhanced MRI (DCE-MRI). METHODS: This study included three groups of adult participants: patients with NORSE, encephalitis patients without status epilepticus (SE), and healthy subjects. These participants were retrospectively included from a prospective DCE-MRI database of neurocritically ill patients and healthy subjects...
March 9, 2023: Epilepsia
https://read.qxmd.com/read/36872854/comparing-electrical-stimulation-functional-mapping-with-subdural-electrodes-and-stereo-eeg
#17
JOURNAL ARTICLE
Gewalin Aungaroon, Kishore Vedala, Anna W Byars, Brian Ervin, Leonid Rozhkov, Paul S Horn, S K Z Ihnen, Katherine D Holland, Jeffrey R Tenney, Kelly Kremer, Susan L Fong, Nan Lin, Wei Liu, Todd M Arthur, Hisako Fujiwara, Jesse Skoch, James L Leach, Francesco T Mangano, Hansel M Greiner, Ravindra Arya
OBJECTIVES: Electrical stimulation mapping (ESM) is the clinical standard for functional localization with subdural electrodes (SDE). As stereo-EEG (SEEG) has emerged as an alternative option, we compared functional responses, after-discharges (ADs) and unwanted ESM-induced seizures (EIS) between the two electrode types. METHODS: Incidence and current thresholds for functional responses (sensory, motor, speech/language), ADs and EIS were compared between SDE and SEEG using mixed models incorporating relevant covariates...
March 5, 2023: Epilepsia
https://read.qxmd.com/read/36869855/should-substitution-monotherapy-or-combination-therapy-be-used-after-failure-of-the-first-antiseizure-medication-observations-from-a-30-year-cohort-study
#18
JOURNAL ARTICLE
Haris Hakeem, Bshra Ali A Alsfouk, Patrick Kwan, Martin J Brodie, Zhibin Chen
OBJECTIVES: To assess the temporal trends in the use of second antiseizure (ASM) regimens and compare the efficacy of substitution monotherapy and combination therapy after failure of initial monotherapy in people with epilepsy. METHODS: This was a longitudinal observational cohort study conducted at the Epilepsy Unit of the Western Infirmary in Glasgow, Scotland. We included patients who were newly treated for epilepsy with ASMs between July 1982, and October 2012...
March 4, 2023: Epilepsia
https://read.qxmd.com/read/36869851/not-surgical-technique-but-etiology-contralateral-mri-prior-surgery-and-side-of-surgery-determine-seizure-outcome-after-pediatric-hemispherotomy
#19
JOURNAL ARTICLE
Georgia Ramantani, Christine Bulteau, Dorottya Cserpan, Willem M Otte, Georg Dorfmüller, J Helen Cross, Josef Zentner, Martin Tisdall, Kees P J Braun
OBJECTIVE: We aimed to assess determinants of seizure outcome following pediatric hemispherotomy in a contemporary cohort. METHODS: We retrospectively analyzed the seizure outcomes of 457 children who underwent hemispheric surgery in five European epilepsy centers between 2000 and 2016. We identified variables related to seizure outcome through multivariable regression modeling with missing data imputation and optimal group matching and further investigated the role of surgical technique by Bayes factor (BF) analysis...
March 4, 2023: Epilepsia
https://read.qxmd.com/read/36869701/diagnostic-and-therapeutic-approaches-in-refractory-insular-epilepsy
#20
REVIEW
Odile Feys, Serge Goldman, Valentina Lolli, Chantal Depondt, Benjamin Legros, Nicolas Gaspard, Sophie Schuind, Xavier De Tiège, Estelle Rikir
Due to heterogenous seizure semiology and poor contribution of scalp EEG signals, insular epilepsy requires the use of appropriate diagnostic tools for its diagnosis and characterization. The deep location of the insula also presents surgical challenges. The aim of this paper is to review current diagnostic and therapeutic tools and their contribution to the management of insular epilepsy. Magnetic resonance imaging, isotopic imaging, neurophysiological imaging, and genetic testing should be used and interpretated with caution...
March 4, 2023: Epilepsia
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