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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/28038389/adherence-to-antiepileptic-drugs-among-diverse-older-americans-on-part-d-medicare
#3
Kendra Piper, Joshua Richman, Edward Faught, Roy Martin, Ellen Funkhouser, Jerzy P Szaflarski, Chen Dai, Lucia Juarez, Maria Pisu
INTRODUCTION: Older minority groups are more likely to have poor AED adherence. We describe adherence to antiepileptic drugs (AEDs) among older Americans with epilepsy. METHODS: In retrospective analyses of 2008-2010 Medicare claims for a 5% random sample of beneficiaries augmented by minority representation, epilepsy cases in 2009 were those with ≥1 claim with ICD-9345.x or ≥2 with 780.3x, and ≥1 AED. New-onset cases had no such claims or AEDs in the year before the 2009 index event...
December 27, 2016: Epilepsy & Behavior: E&B
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/28027373/new-onset-seizure-in-adults-and-adolescents-a-review
#5
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
#6
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
#7
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/27988965/ictal-asystole-a-systematic-review
#8
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/27988430/kinin-receptors-key-regulators-of-autoimmunity
#9
REVIEW
Rafael Cypriano Dutra
The central function of the immune system is to protect the host from environmental agents such as microbes or chemicals, thereby preserving the integrity of the body, and preventing the onset of illness and infection. Moreover, the immune system is constantly challenged to discriminate self vs. non-self and mediate the correct response, a phenomenon called self-tolerance. The failure of mechanisms responsible for self-tolerance and induction of an immune response against components of the self, induces autoimmunity and culminates however, in several autoimmune diseases...
December 15, 2016: Autoimmunity Reviews
https://www.readbyqxmd.com/read/27942472/cutis-tricolor-a-literature-review-and-report-of-five-new-cases
#10
Martino Ruggieri, Agata Polizzi, Carmelo Schepis, Massimiliano Morano, Serena Strano, Giuseppe Belfiore, Stefano Palmucci, Pietro Valerio Foti, Concetta Pirrone, Mario Roggini, Emanule David, Vincenzo Salpietro, Pietro Milone
BACKGROUND: Cutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (Ruggieri-Happle syndrome, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata); and (IV) in association with other skin disturbances [e...
October 2016: Quantitative Imaging in Medicine and Surgery
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/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
#12
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
#13
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/27876882/nr4a1-knockdown-suppresses-seizure-activity-by-regulating-surface-expression-of-nr2b
#14
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/27868350/an-elderly-jervell-and-lange-nielsen-patient-heterozygous-compound-for-two-new-kcnq1-mutations
#15
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/27861786/infantile-spasms-and-encephalopathy-without-preceding-neonatal-seizures-caused-by-kcnq2-r198q-a-gain-of-function-variant
#16
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
https://www.readbyqxmd.com/read/27861775/prevalence-of-juvenile-myoclonic-epilepsy-in-people-30-years-of-age-a-population-based-study-in-norway
#17
Marte Syvertsen, Morten Kristoffer Hellum, Gunnar Hansen, Astrid Edland, Karl Otto Nakken, Kaja Kristine Selmer, Jeanette Koht
OBJECTIVE: Despite juvenile myoclonic epilepsy (JME) being considered one of the most common epilepsies, population-based prevalence studies of JME are lacking. Our aim was to estimate the prevalence of JME in a Norwegian county, using updated diagnostic criteria. METHODS: This was a cross-sectional study, based on reviews of the medical records of all patients with a diagnosis of epilepsy at Drammen Hospital in the period 1999-2013. The study population consisted of 98,152 people <30 years of age...
January 2017: Epilepsia
https://www.readbyqxmd.com/read/27857123/low-grade-epilepsy-associated-neuroepithelial-tumours-the-2016-who-classification
#18
REVIEW
Ingmar Blümcke, Eleonora Aronica, Albert Becker, David Capper, Roland Coras, Mrinalini Honavar, Thomas S Jacques, Katja Kobow, Hajime Miyata, Angelika Mühlebner, José Pimentel, Figen Söylemezoğlu, Maria Thom
Rapid developments in molecular genetic technology and research have swiftly advanced our understanding of neuro-oncology. As a consequence, the WHO invited their expert panels to revise the current classification system of brain tumours and to introduce, for the first time, a molecular genetic approach for selected tumour entities, thus setting a new gold standard in histopathology. The revised 5th edition of the 'blue book' was released in May 2016 and will have a major impact in stratifying diagnosis and treatment...
November 18, 2016: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/27830114/disruptions-in-cortico-subcortical-covariance-networks-associated-with-anxiety-in-new-onset-childhood-epilepsy
#19
Camille Garcia-Ramos, Jack J Lin, Leonardo Bonilha, Jana E Jones, Daren C Jackson, Vivek Prabhakaran, Bruce P Hermann
Anxiety disorders represent a prevalent psychiatric comorbidity in both adults and children with epilepsy for which the etiology remains controversial. Neurobiological contributions have been suggested, but only limited evidence suggests abnormal brain volumes particularly in children with epilepsy and anxiety. Since the brain develops in an organized fashion, covariance analyses between different brain regions can be investigated as a network and analyzed using graph theory methods. We examined 46 healthy children (HC) and youth with recent onset idiopathic epilepsies with (n = 24) and without (n = 62) anxiety disorders...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27815844/incidence-and-geographic-distribution-of-succinic-semialdehyde-dehydrogenase-ssadh-deficiency
#20
Savita Verma Attri, Pratibha Singhi, Natrujee Wiwattanadittakul, Jyotindra N Goswami, Naveen Sankhyan, Gajja S Salomons, Jean-Baptiste Roullett, Ryan Hodgeman, Mahsa Parviz, K Michael Gibson, Phillip L Pearl
The incidence of succinic semialdehyde dehydrogenase (SSADH) deficiency, an autosomal recessive inherited disorder of GABA degradation, is unknown. Upon a recent diagnosis of a new family of affected fraternal twins from the Punjabi ethnic group of India, case ascertainment from the literature and our database was done to determine the number of confirmed cases along with their geographic distribution. The probands presented with global developmental delay, infantile onset epilepsy, and a persistent neurodevelopmental disorder upon diagnosis at 10 years of age with intellectual disability, expressive aphasia, and behavioral problems most prominent for hyperactivity...
November 5, 2016: JIMD Reports
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