Yangmei Li, Chao Chang, Zhi Zhu, Lan Sun, Chunhai Fan
A deficiency of Ca2+ fluxes arising from dysfunctional voltage-gated calcium channels has been associated with a list of calcium channelopathies such as epilepsy, hypokalemic periodic paralysis, episodic ataxia, etc. Apart from analyzing the pathogenic channel mutations, understanding how the channel regulates the ion conduction would be instructive to the treatment as well. In the present work, in relating the free energetics of Ca2+ transport to the calcium channel, we demonstrate the importance of bridging Ca2+ hydration waters, which form hydrogen bonds with channel -COO- and -C═O groups and enable a long-distance effect on the Ca2+ permeation...
February 24, 2021: Journal of the American Chemical Society
Parima Ahmadipour, Yuxiao Yang, Edward F Chang, Maryam M Shanechi
OBJECTIVE: Extracting and modeling the low-dimensional dynamics of multi-site electrocorticogram (ECoG) network activity is important in studying brain functions and dysfunctions and for developing translational neurotechnologies. Dynamic latent state models can be used to describe the ECoG network dynamics with low-dimensional latent states. But so far, non-stationarity of ECoG network dynamics has largely not been addressed in these latent state models. Such non-stationarity can happen due to a change in brain state or recording instability over time...
February 24, 2021: Journal of Neural Engineering
Henry Hing Cheong Lee, Phillip L Pearl, Alexander Rotenberg
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inborn metabolic disorder caused by the functional impairment of SSADH (encoded by the ALDH5A1 gene), an enzyme essential for metabolism of the inhibitory neurotransmitter γ-aminobutyric acid (GABA). In SSADHD, pathologic accumulation of GABA and its metabolite γ-hydroxybutyrate (GHB) results in broad spectrum encephalopathy including developmental delay, ataxia, seizures, and a heightened risk of sudden unexpected death in epilepsy (SUDEP)...
February 24, 2021: Journal of Child Neurology
Hiroshi Ito
No abstract text is available yet for this article.
February 24, 2021: Clinical Infectious Diseases
Abhijit Anil Patil, K P Vinayan, Arun Grace Roy
No abstract text is available yet for this article.
September 2020: Annals of Indian Academy of Neurology
Esra Sarigecili, Meltem Cobanogullari Direk, Mustafa Komur, Sevcan Tug Bozdogan, Cetin Okuyaz
We report a 2.5-year-old Turkish boy who first presented with nystagmus, lack of eye contact, and hypotonia at 2 months of age and developed refractory seizures when 6 months old. Extensive metabolic tests and imaging being noncontributory, whole-exome sequencing was carried out which revealed a heterozygote NM_001134407.2:C.3299A>G (p.Glu1100Gly) novel mutation in GRIN2A gene. Topiramate was started and seizures were rapidly brought under control. GRIN2A mutations may result in altered GluN2A membrane trafficking and response to glutamate...
September 2020: Annals of Indian Academy of Neurology
Karan Singh, Raj K Setia, Suman Sharma, Namita Bansal, Rajinder K Bansal, Anurag Chaudhary, Sarit Sharma, Jatinder Singh Goraya, Shivani Kalra, Gagandeep Singh
Background: The availability and affordability of antiepileptic drugs (AEDs) are critical to the success of public health initiatives enabling care for people with epilepsy in the community. Objective: To pilot survey the availability and affordability of AEDs in the community. Methods: Field workers used standard WHO-Health Action International approaches and collected data on the availability of, and maximum retail prices of originator brands and least price generics of AEDs in 46 randomly selected public ( n = 29), private ( n = 8), and charitable ( n = 9) pharmacy outlets...
September 2020: Annals of Indian Academy of Neurology
Chaturbhuj Rathore, Kurupath Radhakrishnan
No abstract text is available yet for this article.
September 2020: Annals of Indian Academy of Neurology
Sara Uccella, Livia Pisciotta, Mariasavina Severino, Enrico Bertini, Thea Giacomini, Ginevra Zanni, Giulia Prato, Elisa De Grandis, Lino Nobili, Maria Margherita Mancardi
Mutations in AarF domain-containing kinase 3 (ADCK3) are responsible for the most frequent form of hereditary coenzyme Q10 (CoQ10) deficiency (Q10 deficiency-4), which is mainly associated with autosomal recessive cerebellar ataxia type 2 (ARCA2). Clinical presentation is characterized by a variable degree of cerebellar atrophy and a broad spectrum of associated symptoms, including muscular involvement, movement disorders, neurosensory loss, cognitive impairment, psychiatric symptoms and epilepsy. In this report, we describe, for the first time, a case of photoparoxysmal response in a female patient with a mutation in ADCK3...
February 19, 2021: Epileptic Disorders: International Epilepsy Journal with Videotape
Jacqueline S Gofshteyn, Kevin Gurcharran K, Belinda O Marquis, Jacqueline Lamothe J, Dena Gourley, Zachary Grinspan, Srishti Nangia
Corticosteroids are commonly used to treat refractory epilepsy in children, but the heterogeneity of the population and lack of standardized outcome measures have limited understanding of their effectiveness. We conducted a single-center study of corticosteroids for epileptic encephalopathy to (a) identify domains for measurement and estimate potential effect sizes, (b) characterize heterogeneity, and (c) identify outcomes that may need better tools for measurement. In this retrospective single-center cohort study, children with epileptic encephalopathy (excluding infantile spasms) were treated with a standardized course of oral dexamethasone or IV methylprednisolone...
February 19, 2021: Epileptic Disorders: International Epilepsy Journal with Videotape
Mihai Dragos Maliia, Philippe Kahane, Anca Nica, Ioana Mindruta, Laura Castana, Francesco Cardinale, Stefano Francione
The SEEG International Course, organised in 2017, focused on the investigation and surgery of insulo-perisylvian epilepsies. We present one representative complex case that was discussed. The patient had seizures displaying startle/reflex components. He was MRI negative, while other non-invasive investigations offered only partially concordant data. Initial SEEG exploration resulted in an incomplete definition of the epileptogenic zone. A second SEEG followed, which led to a thorough assessment of the seizure onset zone and the epileptic network, localised to the lateral inferior premotor cortex, explaining the incongruent data obtained beforehand...
February 23, 2021: Epileptic Disorders: International Epilepsy Journal with Videotape
Yara Mikhaeil-Demo, Karina A Gonzalez Otarula, Elizabeth M Bachman, Stephan U Schuele
To study the yield of prolonged ambulatory electroencephalogram (aEEG). A retrospective chart review of all patients who underwent aEEG studies between 2013 and 2017 was performed. Reasons for aEEG were classified into five categories: detection of interictal epileptiform discharges (IEDs), capturing clinical events, detection of unrecognized seizures, monitoring IEDs during treatment, and unclassifiable. Ambulatory EEG reports were reviewed to evaluate whether the study answered the clinical question. A total of 1,264 patients were included...
February 23, 2021: Epileptic Disorders: International Epilepsy Journal with Videotape
Abigail Smakowski, Jacob S Bird, Megan Pritchard, Marco Mula
BACKGROUND: A large amount of literature surrounds the differences between dissociative neurological symptom disorder with non-epileptic seizures (DNSD-S) and epilepsy. AIMS: To explore the research gap on phenotypic differences between DNSD-S and other psychiatric disorders. METHOD: We conducted a case-control study of 1860 patients (620 patients with DNSD-S and 1240 controls with other psychiatric disorders) seen at the South London and Maudsley Hospital NHS Trust between 2007 and 2019...
February 24, 2021: BJPsych Open
Luiza Cury Muller, Maria Joana Mäder-Joaquim, Vera Cristina Terra, Luciano de Paola, Christiane Del Claro Hopker, Luciana de Paula Souza, Carlos Eduardo Soares Silvado
OBJECTIVE: To investigate the performance of epilepsy patients diagnosed with unilateral mesial temporal sclerosis (MTS) on a nonverbal fluency measure using the five-point test (FPT). Our secondary aim was to investigate any differences in FPT and verbal fluency test (VFT) scores between left and right MTS. We hypothesized that scores on the FPT, commonly utilized in the assessment of individuals with presumed frontal lobe damage, would be lower in patients with temporal lobe dysfunction...
February 24, 2021: Clinical Neuropsychologist
Mariana Baldini Prudencio, Patricia Azevedo de Lima, Daniela Kawamoto Murakami, Leticia Pereira de Brito Sampaio, Nágila Raquel Teixeira Damasceno
OBJECTIVES: This study evaluated the adequacy of micronutrient intake from the ketogenic diet (KD) with and without micronutrient supplementation according to age in Brazilian children and adolescents with refractory epilepsy undergoing KD treatment. METHODS: This study enrolled children and adolescents with refractory epilepsy who were up to 19 y of age. Nutrient intakes were monitored using 3 d food records before introducing micronutrient supplementation and 3 mo after starting KD treatment...
January 29, 2021: Nutrition
Wesley T Kerr, Xingruo Zhang, Chloe E Hill, Emily A Janio, Andrea M Chau, Chelsea T Braesch, Justine M Le, Jessica M Hori, Akash B Patel, Corinne H Allas, Amir H Karimi, Ishita Dubey, Siddhika S Sreenivasan, Norma L Gallardo, Janar Bauirjan, Eric S Hwang, Emily C Davis, Shannon R D'Ambrosio, Mona Al Banna, Andrew Y Cho, Sandra R Dewar, Jerome Engel, Jamie D Feusner, John M Stern
PURPOSE: While certain clinical factors suggest a diagnosis of dissociative seizures (DS), otherwise known as functional or psychogenic nonepileptic seizures (PNES), ictal video-electroencephalography monitoring (VEM) is the gold standard for diagnosis. Diagnostic delays were associated with worse quality of life and more seizures, even after treatment. To understand why diagnoses were delayed, we evaluated which factors were associated with delay to VEM. METHODS: Using data from 341 consecutive patients with VEM-documented dissociative seizures, we used multivariate log-normal regression with recursive feature elimination (RFE) and multiple imputation of some missing data to evaluate which of 76 clinical factors were associated with time from first dissociative seizure to VEM...
February 15, 2021: Seizure: the Journal of the British Epilepsy Association
Anna Maria Buccoliero, Chiara Caporalini, Mirko Scagnet, Federico Mussa, Flavio Giordano, Iacopo Sardi, Irene Migliastro, Selene Moscardi, Valerio Conti, Carmen Barba, Manila Antonelli, Francesca Gianno, Sabrina Rossi, Francesca Diomedi-Camassei, Marco Gessi, Vittoria Donofrio, Luca Bertero, Felice Giangaspero, Mariarita Santi, Eleonora Aronica, Lorenzo Genitori, Renzo Guerrini
PURPOSE: Our purpose was to better understand the pathogenesis of seizures associated with angiocentric glioma. Angiocentric glioma is an indolent and rare low-grade glioma. Its typical clinical presentation is with epileptic seizures. The pathogenesis of tumor-associated seizures is poorly understood. Among the possible pathomechanisms, the increased neurotoxic concentrations of the glutamate has been proposed. Glutamate transporters, pyruvate carboxylase and glutamine synthetase are involved in maintaining the physiological concentration of glutamate in the inter synaptic spaces...
February 16, 2021: Seizure: the Journal of the British Epilepsy Association
Christoph Helmstaedter, Lázló Solymosi, Martin Kurthen, Shahan Momjian, Karl Schaller
BACKGROUND: Alien hand syndrome (AHS) is a disabling condition in which one hand behaves in a way that the person finds "alien". This feeling of alienation is related to the occurrence of movements of the respective hand performed without or against conscious intention. Most information on AHS stems from single case observations in patients with frontal, callosal, or parietal brain damage. METHODS: Retrospective analysis of distinctive clinical features of three out of 18 epilepsy patients who developed AHS with antagonistic movements of the left hand after corpus callosotomy (CC) (one anterior, two complete) for the control of epileptic seizures, particularly epileptic drop attacks (EDA)...
February 16, 2021: Seizure: the Journal of the British Epilepsy Association
Hsiu-Fang Chen, Yun-Fang Tsai, Jun-Yu Fan, Min-Chi Chen, Mo-Song Hsi, Mau-Sun Hua
PURPOSE: Epilepsy is a neurological disease that causes recurrent seizures and can have a significant impact on a person's quality of life (QOL). A self-management intervention (SMI) can allow adults with epilepsy to modify behaviors in order to manage their seizures and evaluate the impact of medication and treatments on their daily lives. The purpose of this study was to investigate the effects of a SMI for adults with epilepsy. METHODS: This was a longitudinal randomized controlled trial...
February 20, 2021: Epilepsy & Behavior: E&B
Randi von Wrede, Carolin Meschede, Fiona Brand, Christoph Helmstaedter
This study investigated to which degree levetiracetam (LEV) and perampanel (PER), antiseizure medications (ASM) that are both known to cause aggression and irritability, share the same or different, behavioral side-effect profiles. In this self-report study, 68 participants with epilepsy treated with LEV (n = 35) or PER (n = 33) as part of their medication were asked to rate their behavioral experience with the respective drug as positive, neutral, or negative. Results of a German adaptation of the Adverse Events Profile (AEP) and of the "FPZ", a German personality questionnaire, were analyzed as a function of drug and rating...
February 20, 2021: Epilepsy & Behavior: E&B
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