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https://www.readbyqxmd.com/read/28073790/clemizole-and-modulators-of-serotonin-signalling-suppress-seizures-in-dravet-syndrome
#1
Aliesha Griffin, Kyla R Hamling, Kelly Knupp, SoonGweon Hong, Luke P Lee, Scott C Baraban
Dravet syndrome is a catastrophic childhood epilepsy with early-onset seizures, delayed language and motor development, sleep disturbances, anxiety-like behaviour, severe cognitive deficit and an increased risk of fatality. It is primarily caused by de novo mutations of the SCN1A gene encoding a neuronal voltage-activated sodium channel. Zebrafish with a mutation in the SCN1A homologue recapitulate spontaneous seizure activity and mimic the convulsive behavioural movements observed in Dravet syndrome. Here, we show that phenotypic screening of drug libraries in zebrafish scn1 mutants rapidly and successfully identifies new therapeutics...
January 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28057450/antiepileptic-drugs-prevent-seizures-in-hyperbaric-oxygen-a-novel-model-of-epileptiform-activity
#2
Ivan T Demchenko, Sergei Yu Zhilyaev, Alexander N Moskvin, Alexander I Krivchenko, Claude A Piantadosi, Barry W Allen
Breathing oxygen at sufficiently elevated pressures can trigger epileptiform seizures. Therefore, we tested the hypothesis that pre-treatment with FDA-approved antiepileptic drugs could prevent seizure onset in hyperoxia at 5 atmospheres absolute. We selected drugs from two putative functional categories, Na(+)-channel antagonists and GABA enhancers, each administered intraperitoneally at four doses in separate groups of C57BL/6 mice. The drugs varied in efficacy at the doses used. Of the five tested Na(+)-channel antagonists, carbamazepine and lamotrigine more than tripled seizure latency compared to values seen in vehicle controls...
January 2, 2017: Brain Research
https://www.readbyqxmd.com/read/28041880/dynamic-cell-type-specific-roles-for-gabaergic-interneurons-in-a-mouse-model-of-optogenetically-inducible-seizures
#3
Sattar Khoshkhoo, Daniel Vogt, Vikaas S Sohal
GABAergic interneurons play critical roles in seizures, but it remains unknown whether these vary across interneuron subtypes or evolve during a seizure. This uncertainty stems from the unpredictable timing of seizures in most models, which limits neuronal imaging or manipulations around the seizure onset. Here, we describe a mouse model for optogenetic seizure induction. Combining this with calcium imaging, we find that seizure onset rapidly recruits parvalbumin (PV), somatostatin (SOM), and vasoactive intestinal peptitde (VIP)-expressing interneurons, whereas excitatory neurons are recruited several seconds later...
December 29, 2016: Neuron
https://www.readbyqxmd.com/read/28034485/the-photosensitivity-model-is-also-a-model-for-focal-partial-seizures
#4
Dorothee Kasteleijn-Nolst Trenite, Pierre Genton, Christian Brandt, Ronald C Reed
The 'Photosensitivity Model' uses a standardized stimulation protocol of repeated intermittent photic stimulation (IPS) over a three-day period, with administration of a single dose of an investigational antiepileptic drug (AED) after a baseline IPS day in photosensitive patients, followed by a third IPS day to determine duration of effect. This 'Photosensitivity Model' has shown its' value in the development of new AEDs. Levetiracetam (LEV), currently a first-line AED in new-onset focal epilepsies, was not effective in classical animal models, but showed dose-dependent efficacy in the human 'Photosensitivity Model'...
December 2, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/28033278/delayed-onset-of-posterior-reversible-encephalopathy-syndrome-in-a-case-of-scleroderma-renal-crisis-with-maintenance-hemodialysis-case-report-and-literature-review
#5
Ching-Yang Chen, Shin-Yuan Hung, Yi-Jer Lee, Yi-Chan Lin, Chu-Cheng Pai
INTRODUCTION: In some cases, scleroderma renal crisis (SRC) is not easily distinguishable from other thrombotic microangiopathies such as thrombotic thrombocytopenic purpura, especially when the presentation includes neurological or extra-renal manifestations. Here, we present a case of SRC who developed a rare neurotoxic complication, posterior reversible encephalopathy syndrome (PRES).A 36-year-old man with a history of diffuse cutaneous systemic sclerosis developed SRC and acute-on-chronic renal failure and ultimately required maintenance hemodialysis...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28027373/new-onset-seizure-in-adults-and-adolescents-a-review
#6
Jay R Gavvala, Stephan U Schuele
Importance: Approximately 8% to 10% of the population will experience a seizure during their lifetime. Only about 2% to 3% of patients go on to develop epilepsy. Understanding the underlying etiology leading to an accurate diagnosis is necessary to ensure appropriate treatment and that patients with low risk for recurrence are not treated unnecessarily. Observations: Patients can present with new-onset seizure for a variety of reasons such as acute symptomatic seizures due to acute brain injury or metabolic derangements, or unprovoked seizures that are the initial manifestation of epilepsy...
27, 2016: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28025529/anticonvulsant-effects-of-fractions-isolated-from-dinoponera-quadriceps-kempt-ant-venom-formicidae-ponerinae
#7
Diana Aline Morais Ferreira Nôga, Luiz Eduardo Mateus Brandão, Fernanda Carvalho Cagni, Delano Silva, Dina Lilia Oliveira de Azevedo, Arrilton Araújo, Wagner Ferreira Dos Santos, Antonio Miranda, Regina Helena da Silva, Alessandra Mussi Ribeiro
Natural products, sources of new pharmacological substances, have large chemical diversity and architectural complexity. In this context, some toxins obtained from invertebrate venoms have anticonvulsant effects. Epilepsy is a neurological disorder that affects about 65 million people worldwide, and approximately 30% of cases are resistant to pharmacological treatment. Previous studies from our group show that the denatured venom of the ant Dinoponera quadriceps (Kempt) protects mice against bicuculline (BIC)-induced seizures and death...
December 23, 2016: Toxins
https://www.readbyqxmd.com/read/28017648/non-invasive-pet-imaging-of-brain-inflammation-at-disease-onset-predicts-spontaneous-recurrent-seizures-and-reflects-comorbidities
#8
Daniele Bertoglio, Jeroen Verhaeghe, Eva Santermans, Halima Amhaoul, Elisabeth Jonckers, Leonie Wyffels, Annemie Van Der Linden, Niel Hens, Steven Staelens, Stefanie Dedeurwaerdere
Brain inflammation is an important factor in the conversion of a healthy brain into an epileptic one, a phenomenon known as epileptogenesis, offering a new entry point for prognostic tools. The development of anti-epileptogenic therapies to treat before or at disease onset is hampered by our inability to predict the severity of the disease outcome. In a rat model of temporal lobe epilepsy we aimed to assess whether in vivo non-invasive imaging of brain inflammation at disease onset was predictive of spontaneous recurrent seizures (SRS) frequency and severity of depression-like and sensorimotor-related comorbidities...
December 22, 2016: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28003499/new-onset-seizure-in-hiv-infected-adult-zambians-a-search-for-causes-and-consequences
#9
Omar K Siddiqi, Melissa A Elafros, Christopher M Bositis, Igor J Koralnik, William H Theodore, Jason F Okulicz, Lisa Kalungwana, Michael J Potchen, Izukanji Sikazwe, Gretchen L Birbeck
OBJECTIVE: To identify the etiology of new-onset seizure in HIV-infected Zambian adults and identify risk factors for seizure recurrence. METHODS: A prospective cohort study enrolling HIV-infected adults with new-onset seizure within 2 weeks of index seizure obtained clinical, laboratory, and neuroimaging data to determine seizure etiology. Participants were followed to identify risk factors for seizure recurrence. Risk factors for mortality were examined as mortality rates were unexpectedly high...
December 21, 2016: Neurology
https://www.readbyqxmd.com/read/27988965/ictal-asystole-a-systematic-review
#10
Dalma Tényi, Csilla Gyimesi, Péter Kupó, Réka Horváth, Beáta Bóné, Péter Barsi, Norbert Kovács, Tamás Simor, Zsuzsa Siegler, László Környei, András Fogarasi, József Janszky
OBJECTIVE: To comprehensively analyze ictal asystole (IA) on a large number of subjects. METHODS: We performed a systematic review of case report studies of patients diagnosed with IA (1983-2016). Each included case was characterized with respect to patient history, IA seizure characteristics, diagnostic workup, and therapy. In addition, comparative analyses were also carried out: two alignments were developed based on the delay between epilepsy onset and IA onset ("new-onset" if <1 year, "late-onset" if ≥1 year) and asystole duration (asystole was "very prolonged" if lasted >30 s)...
December 18, 2016: Epilepsia
https://www.readbyqxmd.com/read/27936450/clinical-outcome-following-medical-treatment-of-cavernous-malformation-related-epilepsy
#11
Yoonju Lee, Kyoo Ho Cho, Hye Ihn Kim, Seung-Koo Lee, Yang-Je Cho, Kyoung Heo, Byung In Lee
PURPOSE: The study was conducted to assess the long-term outcome of antiepileptic drug (AED) treatment in drug-naïve patients with cavernous malformation (CM) related epilepsy (CRE). METHOD: This is a retrospective, single-center, long-term observational study of 34 patients with previously untreated seizures related to CM. All patients were followed-up for at least two years. Drug resistant epilepsy (DRE) was defined as two or more seizures per year after trial of two appropriate AEDs...
November 18, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27920872/anterior-and-posterior-suprasellar-extensions-of-a-symmetrical-trilobed-nonfunctional-giant-pituitary-adenoma-in-the-sagittal-plane-a-case-report-and-review-of-literature
#12
Rushabh M Vakharia, Roman Kremen, Ajit Vakharia, Obed Adarkwah, Gordon Anderson
INTRODUCTION: To the best of our knowledge, the presence of a trilobed nonfunctional giant pituitary adenoma has never been described before in the literature. These tumors present unique diagnostic and therapeutic challenges. Tumors of this etiology can be managed with pharmacologic treatment or aggressive surgical intervention. The following case illustrates an unique visual presentation of a giant pituitary adenoma. CASE PRESENTATION: We report the case of a 40-year-old Hispanic man who presented with new onset seizures...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27915111/clinical-outcomes-of-perampanel-vs-lacosamide-in-cohorts-of-consecutive-patients-with-severely-refractory-epilepsies-a-monocentric-retrospective-analysis-of-systematically-collected-data-from-the-german-kork-epilepsy-center
#13
Christoph Kurth, Edgar Kockelmann, Bernhard J Steinhoff
PURPOSE: Perampanel (PER) and lacosamide (LCM) are antiepileptic drugs (AEDs) approved for the adjunctive treatment of partial-onset seizures. At the time of market entry, information on clinical effectiveness of new AEDs is limited to results from pivotal trials, real-life or comparative data are missing. This analysis of data collected retrospectively in a German epilepsy center used unified evaluation criteria, and describes treatment outcomes with LCM and PER at 6 months. METHODS: Results of the first 70 consecutive patients who had received LCM or PER after their market entries in Germany were compared...
November 23, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#14
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27878553/magnesium-sulfate-provides-neuroprotection-in-eclampsia-like-seizure-model-by-ameliorating-neuroinflammation-and-brain-edema
#15
Xiaolan Li, Xinjia Han, Jinying Yang, Junjie Bao, Xiaodan Di, Guozheng Zhang, Huishu Liu
Eclampsia is a hypertensive disorder of pregnancy that is defined by the new onset of grand mal seizures on the basis of preeclampsia and a leading cause of maternal and fetal mortality worldwide. Presently, magnesium sulfate (MgSO4) is the most effective treatment, but the mechanism by which MgSO4 prevents eclampsia has yet to be fully elucidated. We previously showed that systemic inflammation decreases the seizure threshold in a rat eclampsia-like model, and MgSO4 treatment can decrease systemic inflammation...
November 22, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27876882/nr4a1-knockdown-suppresses-seizure-activity-by-regulating-surface-expression-of-nr2b
#16
Yanke Zhang, Guojun Chen, Baobing Gao, Yunlin Li, Shuli Liang, Xiaofei Wang, Xuefeng Wang, Binglin Zhu
Nuclear receptor subfamily 4 group A member 1 (NR4A1), a downstream target of CREB that is a key regulator of epileptogenesis, has been implicated in a variety of biological processes and was previously identified as a seizure-associated molecule. However, the relationship between NR4A1 and epileptogenesis remains unclear. Here, we showed that NR4A1 protein was predominantly expressed in neurons and up-regulated in patients with epilepsy as well as pilocarpine-induced mouse epileptic models. NR4A1 knockdown by lentivirus transfection (lenti-shNR4A1) alleviated seizure severity and prolonged onset latency in mouse models...
November 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27876089/rapid-onset-obesity-hypoventilation-hypothalamic-dysfunction-autonomic-dysregulation-and-neuroendocrine-tumor-syndrome-with-a-homogenous-enlargement-of-the-pituitary-gland-a-case-report
#17
Lama Aljabban, Lina Kassab, Nour Alhuda Bakoura, Mohammad Fayez Alsalka, Ismaeil Maksoud
BACKGROUND: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome is a rare pediatric disorder with a variable sequence of clinical presentations, undefined etiology, and high risk of mortality. Our patient presented an unusual course of the disease accompanied by a homogenous mild enlargement of her pituitary gland with an intact pituitary-endocrine axis which, to the best of our knowledge, represents a new finding in rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome...
November 22, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27868350/an-elderly-jervell-and-lange-nielsen-patient-heterozygous-compound-for-two-new-kcnq1-mutations
#18
Eliecer Coto, Francisco J García-Fernández, David Calvo, Ricardo Salgado-Aranda, Javier Martín-González, Belén Alonso, Sara Iglesias, Juan Gómez
We present the case of a 66-year-old female with early onset deafness and seizures, who was diagnosed with epilepsy at the age of 2 years. She received antiepileptic drugs and was free of syncope episodes for 32 years. After a syncope at the age of 34, the ECG was characteristic of long-QT syndrome and was treated with antiarrhythmic drugs. Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27862011/effective-reduction-of-acute-ethanol-withdrawal-by-the-tetracycline-derivative-tigecycline-in-female-and-male-dba-2j-mice
#19
Joseph M Martinez, Jessica A Groot, David C Curtis, Clayton L Allison, Patrick C Marquardt, Ashley N Holmes, David S Edwards, David R M Trotter, Peter J Syapin, Deborah A Finn, Susan E Bergeson
BACKGROUND: Alcohol use disorder (AUD) is a spectrum disorder characterized by mild to severe symptoms, including potential withdrawal signs upon cessation of consumption. Approximately five hundred thousand patients with AUD undergo clinically relevant episodes of withdrawal annually (New Engl J Med, 2003, 348, 1786). Recent evidence indicates potential for drugs that alter neuroimmune pathways as new AUD therapies. We have previously shown the immunomodulatory drugs, minocycline and tigecycline, were effective in reducing ethanol (EtOH) consumption in both the 2-bottle choice and drinking-in-the-dark paradigms...
December 2016: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/27861786/infantile-spasms-and-encephalopathy-without-preceding-neonatal-seizures-caused-by-kcnq2-r198q-a-gain-of-function-variant
#20
John J Millichap, Francesco Miceli, Michela De Maria, Cynthia Keator, Nishtha Joshi, Baouyen Tran, Maria Virginia Soldovieri, Paolo Ambrosino, Vandana Shashi, Mohamad A Mikati, Edward C Cooper, Maurizio Taglialatela
Variants in KCNQ2 encoding for Kv 7.2 neuronal K(+) channel subunits lead to a spectrum of neonatal-onset epilepsies, ranging from self-limiting forms to severe epileptic encephalopathy. Most KCNQ2 pathogenic variants cause loss-of-function, whereas few increase channel activity (gain-of-function). We herein provide evidence for a new phenotypic and functional profile in KCNQ2-related epilepsy: infantile spasms without prior neonatal seizures associated with a gain-of-function gene variant. With use of an international registry, we identified four unrelated patients with the same de novo heterozygous KCNQ2 c...
January 2017: Epilepsia
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