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epilepsy update

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https://www.readbyqxmd.com/read/28636645/genetic-susceptibility-in-juvenile-myoclonic-epilepsy-systematic-review-of-genetic-association-studies
#1
Bruna Priscila Dos Santos, Chiara Rachel Maciel Marinho, Thalita Ewellyn Batista Sales Marques, Layanne Kelly Gomes Angelo, Maísa Vieira da Silva Malta, Marcelo Duzzioni, Olagide Wagner de Castro, João Pereira Leite, Fabiano Timbó Barbosa, Daniel Leite Góes Gitaí
BACKGROUND: Several genetic association investigations have been performed over the last three decades to identify variants underlying Juvenile Myoclonic Epilepsy (JME). Here, we evaluate the accumulating findings and provide an updated perspective of these studies. METHODOLOGY: A systematic literature search was conducted using the PubMed, Embase, Scopus, Lilacs, epiGAD, Google Scholar and Sigle up to February 12, 2016. The quality of the included studies was assessed by a score and classified as low and high quality...
2017: PloS One
https://www.readbyqxmd.com/read/28569419/regulating-drivers-with-epilepsy-in-maryland-results-of-the-application-of-a-united-states-consensus-guideline
#2
Brandy B Ma, John Bloch, Allan Krumholz, Jennifer L Hopp, Perry J Foreman, Carl A Soderstrom, Mary A Scottino, Martha Matsumoto, Gregory L Krauss
OBJECTIVE: Driving regulations for people with seizures vary widely throughout the United States and the world. Maryland updated their guidelines in 2003 to reflect those of a U.S. consensus guideline requiring a minimum 3-month seizure-free period as well as an individual risk assessment by a Medical Advisory Board (MAB). This retrospective study provides the first analysis of outcomes after the implementation of the consensus guidelines and an assessment of their predictive validity through longitudinal outcome data...
June 1, 2017: Epilepsia
https://www.readbyqxmd.com/read/28524224/-epileptic-encephalopathies-in-infancy-how-do-we-treat-them-does-the-aetiology-influence-the-response-to-treatment
#3
S Roldan
INTRODUCTION: Resistance to treatments is a common feature of Ohtahara, Aicardi, West and Dravet syndromes, as well as malignant migrating epilepsy in infancy. AIMS: To update the therapeutic management and to analyse whether the aetiology somehow determines the treatment. DEVELOPMENT: Convulsive seizures in the first year of life may be due to a potentially treatable aetiology, which makes it essential to carry out a complete evaluation so as to be able to begin, as early as possible, the most suitable and the non-specific symptomatic treatments to control the seizures, which prevents or minimises their deleterious effects...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28521067/antiepileptic-drugs-for-the-treatment-of-infants-with-severe-myoclonic-epilepsy
#4
REVIEW
Francesco Brigo, Stanley C Igwe, Nicola Luigi Bragazzi
BACKGROUND: This is an updated version of the original Cochrane review published in 2015, Issue 10.Severe myoclonic epilepsy in infants (SMEI), also known as Dravet syndrome, is a rare, refractory form of epilepsy, for which stiripentol (STP) has been recently licensed as add-on therapy. OBJECTIVES: To evaluate the efficacy and tolerability of STP and other antiepileptic drug treatments (including ketogenic diet) for patients with SMEI. SEARCH METHODS: For the latest update we searched the Cochrane Epilepsy Group Specialized Register (20 December 2016), the Cochrane Central Register of Controlled Trials (CENTRAL) via the Cochrane Register of Studies Online (CRSO, 20 December 2016), MEDLINE (Ovid, 1946 to 20 December 2016) and ClinicalTrials...
May 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28488252/multiscale-modeling-in-the-clinic-diseases-of-the-brain-and-nervous-system
#5
REVIEW
William W Lytton, Jeff Arle, Georgiy Bobashev, Songbai Ji, Tara L Klassen, Vasilis Z Marmarelis, James Schwaber, Mohamed A Sherif, Terence D Sanger
Computational neuroscience is a field that traces its origins to the efforts of Hodgkin and Huxley, who pioneered quantitative analysis of electrical activity in the nervous system. While also continuing as an independent field, computational neuroscience has combined with computational systems biology, and neural multiscale modeling arose as one offshoot. This consolidation has added electrical, graphical, dynamical system, learning theory, artificial intelligence and neural network viewpoints with the microscale of cellular biology (neuronal and glial), mesoscales of vascular, immunological and neuronal networks, on up to macroscales of cognition and behavior...
May 9, 2017: Brain Informatics
https://www.readbyqxmd.com/read/28487569/novel-mutations-in-adsl-for-adenylosuccinate-lyase-deficiency-identified-by-the-combination-of-trio-wes-and-constantly-updated-guidelines
#6
Xiao Mao, Kai Li, Beisha Tang, Yang Luo, Dongxue Ding, Yuwen Zhao, Chunrong Wang, Xiaoting Zhou, Zhenhua Liu, Yuan Zhang, Puzhi Wang, Qian Xu, Qiying Sun, Kun Xia, Xinxiang Yan, Hong Jiang, Shen Lu, Jifeng Guo
Whole-exome sequencing (WES), one of the next-generation sequencing (NGS), has become a powerful tool to identify exonic variants. Investigating causality of the sequence variants in human disease becomes an important part in NGS for the research and clinical applications. Recently, important guidelines on them have been published and will keep on updating. In our study, two Chinese families, with the clinical diagnosis of "Epilepsy", which presented with seizures, psychomotor retardation, hypotonia and etc...
May 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28483337/individualised-prediction-model-of-seizure-recurrence-and-long-term-outcomes-after-withdrawal-of-antiepileptic-drugs-in-seizure-free-patients-a-systematic-review-and-individual-participant-data-meta-analysis
#7
Herm J Lamberink, Willem M Otte, Ada T Geerts, Milen Pavlovic, Julio Ramos-Lizana, Anthony G Marson, Jan Overweg, Letícia Sauma, Luigi M Specchio, Michael Tennison, Tania M O Cardoso, Shlomo Shinnar, Dieter Schmidt, Karin Geleijns, Kees P J Braun
BACKGROUND: People with epilepsy who became seizure-free while taking antiepileptic drugs might consider discontinuing their medication, with the possibility of increased quality of life because of the elimination of adverse events. The risk with this action, however, is seizure recurrence. The objectives of our study were to identify predictors of seizure recurrence and long-term seizure outcomes and to produce nomograms for estimation of individualised outcomes. METHODS: We did a systematic review and meta-analysis, and identified eligible articles and candidate predictors, using PubMed and Embase databases with a last update on Nov 6, 2014...
May 5, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28434203/topiramate-monotherapy-for-juvenile-myoclonic-epilepsy
#8
REVIEW
Jia Liu, Lu-Ning Wang, Yu-Ping Wang
BACKGROUND: Topiramate is a newer broad-spectrum antiepileptic drug (AED). Some studies have shown the benefits of topiramate monotherapy in the treatment of juvenile myoclonic epilepsy (JME). However, there are no current systematic reviews to determine the efficacy and tolerability of topiramate monotherapy in people with JME. This is an updated version of the original Cochrane Review published in Issue 12, 2015. OBJECTIVES: To evaluate the efficacy and tolerability of topiramate monotherapy in the treatment of JME...
April 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28429106/occupational-exposure-to-extremely-low-frequency-magnetic-fields-and-risk-for-central-nervous-system-disease-an-update-of-a-danish-cohort-study-among-utility-workers
#9
Camilla Pedersen, Aslak Harbo Poulsen, Naja Hulvej Rod, Patrizia Frei, Johnni Hansen, Kathrine Grell, Ole Raaschou-Nielsen, Joachim Schüz, Christoffer Johansen
PURPOSE: Evidence of whether exposure to extremely low-frequency magnetic fields (ELF-MF) is related to central nervous system diseases is inconsistent. This study updates a previous study of the incidence of such diseases in a large cohort of Danish utility workers by almost doubling the period of follow-up. METHODS: We investigated the risks for dementia, motor neurone disease, Parkinson disease, multiple sclerosis and epilepsy among 32,006 men employed at the 99 utility companies that supplied Denmark with electricity during the period 1900-1993...
April 20, 2017: International Archives of Occupational and Environmental Health
https://www.readbyqxmd.com/read/28427024/knowledge-attitude-and-practice-about-epilepsy-among-teachers-at-ethio-national-school-addis-ababa-ethiopia
#10
Tesfaye Berhe, Bethlehem Yihun, Emebet Abebe, Hailu Abera
BACKGROUND: Epilepsy is one of the most common serious chronic brain disorders and is poorly understood by the public and has been associated with numerous misconceptions and beliefs. This, coupled with its dramatic clinical manifestations, has resulted in a strong social stigma. Since teachers have a key role in society as educators, the purpose of this study was to find out the knowledge, attitude, and practice towards epilepsy among school teachers. METHODS: A cross-sectional study design was used to assess the knowledge, attitude, and practice of 135 teachers about epilepsy using a semi-structured, self-administered questionnaire...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28412919/neurological-disorders-in-medical-use-of-cannabis-an-update
#11
Renata Solimini, Maria Concetta Rotolo, Simona Pichini, Roberta Pacifici
Medical cannabis is increasingly used as a treatment or adjunct treatment with different levels of efficacy in several neurological disorders or related symptoms (such as multiple sclerosis, autism, Parkinson and Alzheimer disease, Tourette's syndrome, Huntington's disease, neuropathic pain, epilepsy, headache), as well as in other medical conditions (e.g. nausea and vomiting, glaucoma, appetite stimulation, cancer, inflammatory conditions, asthma). Nevertheless, a number of neurological adverse effects from use of medical cannabis on the short- and on the long- term have been reported, in addition to other adverse health events...
April 13, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28399591/autosomal-recessive-primary-microcephaly-mcph-an-update
#12
Sami Zaqout, Deborah Morris-Rosendahl, Angela M Kaindl
Autosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a genetically heterogeneous neurodevelopmental disorder characterized by a significantly reduced head circumference present already at birth and intellectual disability. Inconsistent features include hyperactivity, an expressive speech disorder, and epilepsy. Here, we provide a brief overview on this rare disorder pertinent for clinicians.
April 11, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28376926/cancer-and-central-nervous-system-disorders-protocol-for-an-umbrella-review-of-systematic-reviews-and-updated-meta-analyses-of-observational-studies
#13
Ferrán Catalá-López, Brian Hutton, Jane A Driver, Matthew J Page, Manuel Ridao, José M Valderas, Adolfo Alonso-Arroyo, Jaume Forés-Martos, Salvador Martínez, Ricard Gènova-Maleras, Diego Macías-Saint-Gerons, Benedicto Crespo-Facorro, Eduard Vieta, Alfonso Valencia, Rafael Tabarés-Seisdedos
BACKGROUND: The objective of this study will be to synthesize the epidemiological evidence and evaluate the validity of the associations between central nervous system disorders and the risk of developing or dying from cancer. METHODS/DESIGN: We will perform an umbrella review of systematic reviews and conduct updated meta-analyses of observational studies (cohort and case-control) investigating the association between central nervous system disorders and the risk of developing or dying from any cancer or specific types of cancer...
April 4, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28329897/maternal-labor-delivery-and-perinatal-outcomes-associated-with-placental-abruption-a-systematic-review
#14
Katheryne L Downes, Katherine L Grantz, Edmond D Shenassa
Objective Risk factors for placental abruption have changed, but there has not been an updated systematic review investigating outcomes. Methods We searched PubMed, EMBASE, Web of Science, SCOPUS, and CINAHL for publications from January 1, 2005 through December 31, 2016. We reviewed English-language publications reporting estimated incidence and/or risk factors for maternal, labor, delivery, and perinatal outcomes associated with abruption. We excluded case studies, conference abstracts, and studies that lacked a referent/comparison group or did not clearly characterize placental abruption...
March 22, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28284392/diseases-of-the-synaptic-vesicle-a-potential-new-group-of-neurometabolic-disorders-affecting-neurotransmission
#15
E Cortès-Saladelafont, A Tristán-Noguero, R Artuch, X Altafaj, A Bayès, A García-Cazorla
The general concept of inborn error of metabolism is currently evolving into the interface between classical biochemistry and cellular biology. Basic neuroscience is providing increasing knowledge about the mechanisms of neurotransmission and novel related disorders are being described. There is a necessity of updating the classic concept of "inborn error of neurotransmitters (NT)" that considers mainly defects of synthesis and catabolism and transport of low weight NT molecules. Monogenic defects of the synaptic vesicle (SV), and especially those affecting the SV cycle are a potential new group of NT disorders since they end up in abnormal NT turnover and release...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28276062/ilae-classification-of-the-epilepsies-position-paper-of-the-ilae-commission-for-classification-and-terminology
#16
Ingrid E Scheffer, Samuel Berkovic, Giuseppe Capovilla, Mary B Connolly, Jacqueline French, Laura Guilhoto, Edouard Hirsch, Satish Jain, Gary W Mathern, Solomon L Moshé, Douglas R Nordli, Emilio Perucca, Torbjörn Tomson, Samuel Wiebe, Yue-Hua Zhang, Sameer M Zuberi
The International League Against Epilepsy (ILAE) Classification of the Epilepsies has been updated to reflect our gain in understanding of the epilepsies and their underlying mechanisms following the major scientific advances that have taken place since the last ratified classification in 1989. As a critical tool for the practicing clinician, epilepsy classification must be relevant and dynamic to changes in thinking, yet robust and translatable to all areas of the globe. Its primary purpose is for diagnosis of patients, but it is also critical for epilepsy research, development of antiepileptic therapies, and communication around the world...
April 2017: Epilepsia
https://www.readbyqxmd.com/read/28240353/carbamazepine-versus-phenytoin-monotherapy-for-epilepsy-an-individual-participant-data-review
#17
REVIEW
Sarah J Nevitt, Anthony G Marson, Jennifer Weston, Catrin Tudur Smith
BACKGROUND: This is an updated version of the original Cochrane Review published in Issue 2, 2002 and its subsequent updates in 2010 and 2015.Epilepsy is a common neurological condition in which recurrent, unprovoked seizures are caused by abnormal electrical discharges from the brain. It is believed that with effective drug treatment, up to 70% of individuals with active epilepsy have the potential to become seizure-free and go into long-term remission shortly after starting drug therapy with a single antiepileptic drug in monotherapy...
February 27, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28229395/transcranial-magnetic-and-direct-current-stimulation-in-children
#18
REVIEW
Mustafa Q Hameed, Sameer C Dhamne, Roman Gersner, Harper L Kaye, Lindsay M Oberman, Alvaro Pascual-Leone, Alexander Rotenberg
Promising results in adult neurologic and psychiatric disorders are driving active research into transcranial brain stimulation techniques, particularly transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS), in childhood and adolescent syndromes. TMS has realistic utility as an experimental tool tested in a range of pediatric neuropathologies such as perinatal stroke, depression, Tourette syndrome, and autism spectrum disorder (ASD). tDCS has also been tested as a treatment for a number of pediatric neurologic conditions, including ASD, attention-deficit/hyperactivity disorder, epilepsy, and cerebral palsy...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28215372/the-managing-epilepsy-well-network-advancing-epilepsy-self-management
#19
EDITORIAL
Martha Sajatovic, Barbara C Jobst, Ross Shegog, Yvan A Bamps, Charles E Begley, Robert T Fraser, Erica K Johnson, Dilip K Pandey, Rakale C Quarells, Peter Scal, Tanya M Spruill, Nancy J Thompson, Rosemarie Kobau
Epilepsy, a complex spectrum of disorders, affects about 2.9 million people in the U.S. Similar to other chronic disorders, people with epilepsy face challenges related to management of the disorder, its treatment, co-occurring depression, disability, social disadvantages, and stigma. Two national conferences on public health and epilepsy (1997, 2003) and a 2012 IOM report on the public health dimensions of epilepsy highlighted important knowledge gaps and emphasized the need for evidence-based, scalable epilepsy self-management programs...
March 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28202008/relationship-between-abcb1-3435tt-genotype-and-antiepileptic-drugs-resistance-in-epilepsy-updated-systematic-review-and-meta-analysis
#20
REVIEW
Malek Chouchi, Wajih Kaabachi, Hedia Klaa, Kalthoum Tizaoui, Ilhem Ben-Youssef Turki, Lamia Hila
BACKGROUND: Antiepileptic drugs (AEDs) are effective medications available for epilepsy. However, many patients do not respond to this treatment and become resistant. Genetic polymorphisms may be involved in the variation of AEDs response. Therefore, we conducted an updated systematic review and a meta-analysis to investigate the contribution of the genetic profile on epilepsy drug resistance. METHODS: We proceeded to the selection of eligible studies related to the associations of polymorphisms with resistance to AEDs therapy in epilepsy, published from January 1980 until November 2016, using Pubmed and Cochrane Library databases...
February 15, 2017: BMC Neurology
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