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https://www.readbyqxmd.com/read/28725554/successful-surgical-management-of-new-onset-refractory-status-epilepticus-norse-presenting-with-gelastic-seizures-in-a-3%C3%A2-year-old-girl
#1
Ahmad Marashly, Sean Lew, Jennifer Koop
Gelastic seizures (GS) are typically associated with hypothalamic hamartomas and present during childhood. However it is now known that GS can be found in focal epilepsies arising from other regions in the brain, including mesial and neocortical frontal, temporal and parietal regions. GS have rarely been described as the presenting manifestation of New Onset Refractory Status Epilepticus (NORSE). In this article we describe a previously healthy 3-year-old who presented with an explosive onset of GS that were refractory to multiple anti-seizure medications...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28714074/altered-metabolomic-genomic-signature-a-potential-noninvasive-biomarker-of-epilepsy
#2
Helen C Wu, Fabien Dachet, Farhad Ghoddoussi, Shruti Bagla, Darren Fuerst, Jeffrey A Stanley, Matthew P Galloway, Jeffrey A Loeb
OBJECTIVE: This study aimed to identify noninvasive biomarkers of human epilepsy that can reliably detect and localize epileptic brain regions. Having noninvasive biomarkers would greatly enhance patient diagnosis, patient monitoring, and novel therapy development. At the present time, only surgically invasive, direct brain recordings are capable of detecting these regions with precision, which severely limits the pace and scope of both clinical management and research progress in epilepsy...
July 17, 2017: Epilepsia
https://www.readbyqxmd.com/read/28699523/altered-homeostatic-functions-in-reactive-astrocytes-and-their-potential-as-a-therapeutic-target-after-brain-ischemic-injury
#3
Helena Pivonkova, Miroslava Anderova
Brain ischemic injury represents one of the greatest medical challenges for the aging population in developed countries, yet despite strong efforts, possibilities to treat ischemic injury still remain poor. Stroke, the most common type of brain ischemic injury in humans, is caused by brain artery occlusion, and represents a focal form of ischemia, which leads to neuronal loss in the ischemic core, and glial scar formation in the penumbral region around the core. Such glial scar mainly comprises reactive astrocytes, reactive NG2 glia and activated microglia...
July 10, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28688606/a-clinical-and-neurophysiological-motor-signature-of-unverricht-lundborg-disease
#4
E Hainque, A Blancher, V Mesnage, S Rivaud-Pechoux, A Bertrand, S Dupont, V Navarro, E Roze, I Gourfinkel-An, E Apartis
OBJECTIVES: Unverricht-Lundborg disease (ULD) is the most common form of progressive myoclonus epilepsy. Cerebellar dysfunction may appear over time, contributing along with myoclonus to motor disability. The purpose of the present work was to clarify the motor and neurophysiological characteristics of ULD patients. METHODS: Nine patients with genetically proven ULD were evaluated clinically (medical history collected from patient charts, the Scale for the Assessment and Rating of Ataxia and Unified Myoclonus Rating Scale)...
July 5, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28675562/innate-and-adaptive-immunity-in-human-epilepsies
#5
Jan Bauer, Albert J Becker, Wassim Elyaman, Jukka Peltola, Stephan Rüegg, Maarten J Titulaer, James A Varley, Ettore Beghi
Inflammatory mechanisms have been increasingly implicated in the origin of seizures and epilepsy. These mechanisms are involved in the genesis of encephalitides in which seizures are a common complaint. Experimental and clinical evidence suggests different inflammatory responses in the brains of patients with epilepsy depending on the etiology. In general, activation of both innate and adaptive immunity plays a role in refractory forms of epilepsy. Epilepsies in which seizures develop after infiltration of cells of the adaptive immune system in the central nervous system (CNS) include a broad range of epileptic disorders with different (known or unknown) etiologies...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28669061/male-patients-affected-by-mosaic-pcdh19-mutations-five-new-cases
#6
I M de Lange, P Rump, R F Neuteboom, P B Augustijn, K Hodges, A I Kistemaker, O F Brouwer, G M S Mancini, H A Newman, Y J Vos, K L Helbig, C Peeters-Scholte, M Kriek, N V Knoers, D Lindhout, B P C Koeleman, M J A van Kempen, E H Brilstra
Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mechanism named cellular interference. Until now, only four affected mosaic male patients have been described in literature. Here, we report five additional male patients, of which four are older than the oldest patient reported so far. All reported patients were selected for genetic testing because of developmental delay and/or epilepsy...
July 1, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28659857/a-new-rat-model-of-epileptic-spasms-based-on-methylazoxymethanol-induced-malformations-of-cortical-development
#7
Eun-Hee Kim, Mi-Sun Yum, Minyoung Lee, Eun-Jin Kim, Woo-Hyun Shim, Tae-Sung Ko
Malformations of cortical development (MCDs) can cause medically intractable epilepsies and cognitive disabilities in children. We developed a new model of MCD-associated epileptic spasms by treating rats prenatally with methylazoxymethanol acetate (MAM) to induce cortical malformations and postnatally with N-methyl-d-aspartate (NMDA) to induce spasms. To produce cortical malformations to infant rats, two dosages of MAM (15 mg/kg, intraperitoneally) were injected to pregnant rats at gestational day 15. In prenatally MAM-exposed rats and the controls, spasms were triggered by single (6 mg/kg on postnatal day 12 (P12) or 10 mg/kg on P13 or 15 mg/kg on P15) or multiple doses (P12, P13, and P15) of NMDA...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28622332/comparison-of-monocyte-gene-expression-among-patients-with-neurocysticercosis-associated-epilepsy-idiopathic-epilepsy-and-idiopathic-headaches-in-india
#8
COMPARATIVE STUDY
Vasudevan Prabhakaran, Douglas A Drevets, Govindan Ramajayam, Josephine J Manoj, Michael P Anderson, Jay S Hanas, Vedantam Rajshekhar, Anna Oommen, Hélène Carabin
BACKGROUND: Neurocysticercosis (NCC), a neglected tropical disease, inflicts substantial health and economic costs on people living in endemic areas such as India. Nevertheless, accurate diagnosis using brain imaging remains poorly accessible and too costly in endemic countries. The goal of this study was to test if blood monocyte gene expression could distinguish patients with NCC-associated epilepsy, from NCC-negative imaging lesion-free patients presenting with idiopathic epilepsy or idiopathic headaches...
June 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28599984/prevention-and-management-of-postoperative-seizures-in-neuro-oncology
#9
F Chassoux, E Landre
INTRODUCTION: Epilepsy related to brain tumors is often difficult to treat and may impact the quality of life. We performed a review of current recommendations for the prevention of postoperative seizures and optimizing the anti-epileptic treatment. MATERIAL AND METHODS: Based on studies performed since 2000 we conducted the review by (1) analyzing the incidence of tumoral epilepsy and mechanisms of epileptogenicity; (2) describing the current medical and surgical strategy according to oncologic treatments; (3) discussing the management of postoperative seizures; (4) considering the drug withdrawal after oncologic therapy...
June 6, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28599256/cirrhosis-patients-stroke-risks-and-adverse-outcomes-two-nationwide-studies
#10
Hsin-Yun Wu, Chao-Shun Lin, Chun-Chieh Yeh, Chaur-Jong Hu, Chun-Chuan Shih, Yih-Giun Cherng, Ta-Liang Chen, Chien-Chang Liao
BACKGROUND & AIMS: The association between liver cirrhosis (LC) and stroke is not completely understood. Our purpose was to evaluate stroke risk and post-stroke outcomes in patients with LC. METHODS: We identified 6944 adults aged 20 years and older, newly diagnosed with LC, using the Taiwan's National Health Insurance Research Database from 2000 to 2005. The comparison cohort consisted of 27,776 adults without LC, randomly selected by frequency matching in age and sex...
May 25, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28587680/in-vitro-antineoplastic-effects-of-brivaracetam-and-lacosamide-on-human-glioma-cells
#11
Ambra Rizzo, Sara Donzelli, Vita Girgenti, Andrea Sacconi, Chiara Vasco, Andrea Salmaggi, Giovanni Blandino, Marta Maschio, Emilio Ciusani
BACKGROUND: Epilepsy is a frequent symptom in patients with glioma. Although treatment with antiepileptic drugs is generally effective in controlling seizures, drug-resistant patients are not uncommon. Multidrug resistance proteins (MRPs) and P-gp are over-represented in brain tissue of patients with drug-resistant epilepsy, suggesting their involvement in the clearance of antiepileptic medications. In addition to their anticonvulsant action, some drugs have been documented for cytotoxic effects...
June 6, 2017: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/28579820/cannabis-and-intractable-chronic-pain-an-explorative-retrospective-analysis-of-italian-cohort-of-614-patients
#12
Guido Fanelli, Giuliano De Carolis, Claudio Leonardi, Adele Longobardi, Ennio Sarli, Massimo Allegri, Michael E Schatman
BACKGROUND: Despite growing interest in the therapeutic use of cannabis to manage chronic pain, only limited data that address these issues are available. In recent years, a number of nations have introduced specific laws to allow patients to use cannabis preparations to treat a variety of medical conditions. In 2015, the Italian government authorized the use of cannabis to treat several diseases, including chronic pain generally, spasticity in multiple sclerosis, cachexia and anorexia among AIDS and cancer patients, glaucoma, Tourette syndrome, and certain types of epilepsy...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28565819/genetic-basis-of-pediatric-epilepsy-syndromes
#13
Dongli Zhang, Xiaoming Liu, Xingqiang Deng
Childhood epilepsy affects ~0.5-1% in the general population worldwide. Early-onset epileptic encephalopathies are considered to be severe neurological disorders, which lead to impaired motor, cognitive, and sensory development due to recurrence of seizures. Many of the observed epilepsy phenotypes are associated with specific chromosomal imbalances and thus display gene dosage effects, and also specific mutations of a variety of genes ranging from ion channels to transcription factors. High throughput sequencing technologies and whole exome sequencing have led to the recognition of several new candidate genes with a possible role in the pathogenesis of epileptic encephalopathies...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28511603/clinical-experience-with-perampanel-for-refractory-pediatric-epilepsy-in-one-canadian-center
#14
Anita N Datta, Qi Xu, Shafina Sachedina, Cyrus Boelman, Linda Huh, Mary B Connolly
Perampanel (PER) is a new antiseizure medication that inhibits the α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) class of glutamate receptors. It is important for physicians to be aware of the efficacy and tolerability of new drugs in the postmarketing phase. We performed a retrospective review of our experience with perampanel at BC Children's Hospital. Twenty-four pediatric patients prescribed perampanel from 2014 to 2016 were identified. Fifteen (63%) discontinued perampanel, and 10 (42%) had greater than 50% reduction in seizures...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28462454/the-national-institute-of-neurological-disorders-and-stroke-ninds-epilepsy-therapy-screening-program-etsp
#15
John H Kehne, Brian D Klein, Shamsi Raeissi, Shalini Sharma
For over 40 years, the National Institute of Neurological Disorders and Stroke/National Institutes of Health-funded Anticonvulsant Screening Program has provided a preclinical screening service for participants world-wide that helped identify/characterize new antiseizure compounds, a number of which advanced to the market for the treatment of epilepsy. The newly-renamed Epilepsy Therapy Screening Program (ETSP) has a refocused mission to identify novel agents which will help address the considerable remaining unmet medical needs in epilepsy...
May 2, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28416780/new-onset-epilepsy-in-the-elderly-clinical-radiological-and-electroencephalographic-features-and-treatment-responses
#16
Erum M Shariff, Fahd A AlKhamis
OBJECTIVE: To evaluate new onset epilepsy characteristics, etiology, radiological and electroencephalographic features and to document treatment response in the elderly. METHODS: This was a retrospective study carried out in King Fahd Medical City, Riyadh, Kingdom of Saudi Arabia, from 2010 to 2013. Medical records were searched to recruit patients. Hundred and nineteen patients were enrolled who fulfill the inclusion criteria. Clinical data with respect to seizure semiology, etiology, electroencephalographic findings, radiological findings, co-morbidities, and anti-epileptic drug (AED) therapy were assessed...
April 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28411518/how-do-you-exercise-with-epilepsy-insights-into-the-barriers-and-adaptations-to-successfully-exercise-with-epilepsy
#17
Sarah S Collard, Caroline Ellis-Hill
Exercise has been shown to be a physiological and psychological benefit for people with epilepsy (PWE). However, barriers prevent many PWE from exercising safely and confidently. This research explored current perceived barriers to exercise and adaptation techniques used by PWE in order to maintain physical activity levels. Three focus groups (2-3 participants per group) and three semi-structured interviews were conducted (11 participants total). Constructive grounded theory was used to frame the study and analyse the findings, presenting new insight into the motivation, perceived barriers, and adaptation techniques used to exercise...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28387933/wonoep-appraisal-development-of-epilepsy-biomarkers-what-we-can-learn-from-our-patients
#18
REVIEW
Sergiusz Jozwiak, Albert Becker, Carlos Cepeda, Jerome Engel, Vadym Gnatkovsky, Gilles Huberfeld, Mehmet Kaya, Katja Kobow, Michele Simonato, Jeffrey A Loeb
OBJECTIVE: Current medications for patients with epilepsy work in only two of three patients. For those medications that do work, they only suppress seizures. They treat the symptoms, but do not modify the underlying disease, forcing patients to take these drugs with significant side effects, often for the rest of their lives. A major limitation in our ability to advance new therapeutics that permanently prevent, reduce the frequency of, or cure epilepsy comes from a lack of understanding of the disease coupled with a lack of reliable biomarkers that can predict who has or who will get epilepsy...
June 2017: Epilepsia
https://www.readbyqxmd.com/read/28384730/intractable-epilepsy-and-progressive-cognitive-decline-in-a-young-man
#19
Alexander L Cohen, Lyell K Jones, Joseph E Parisi, James P Klaas
A young man with normal neurodevelopment presented with 3 years of medically refractory, progressive epilepsy and myoclonus. Initial examination included neuroimaging, electroencephalography, and biochemical analyses, all of which were unremarkable except for mildly enlarged ventricles. Over the following year, the patient experienced rapid cognitive decline with new-onset recurrent visual hallucinations and progressive lethargy. Results of subsequent electroencephalography and brain imaging were unchanged, and a fluorodeoxyglucose F 18 positron emission tomographic scan was normal...
June 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28379373/genetic-and-phenotypic-heterogeneity-suggest-therapeutic-implications-in-scn2a-related-disorders
#20
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot-Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, Maria J Miranda, Maja Hempel, Eva Brilstra, Nine Knoers, Nienke Verbeek, Marjan van Kempen, Kees P Braun, Grazia Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily Wong-Kisiel, Friedrich M Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G Thoene, Daniel H Arndt, Nicolas Deconinck, Thomas Schmitt-Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, Claudio Finetti, Reinhard Brückner, Joachim Pietz, Günther Golla, Dinesh Jillella, Karen M Linnet, Perrine Charles, Ute Moog, Eve Õiglane-Shlik, John F Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, G Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L Helbig, Katia Hardies, Hannah Stamberger, Peter de Jonghe, Sarah Weckhuysen, Johannes R Lemke, Ingeborg Krägeloh-Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S Møller
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p...
March 4, 2017: Brain: a Journal of Neurology
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