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Epilepsy in children

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https://www.readbyqxmd.com/read/29778029/late-onset-childhood-neuronal-ceroid-lipofuscinosis-early-clinical-and-electroencephalographic-markers
#1
Lucas Beltrán, Gabriela Reyes Valenzuela, Mariana Loos, Rodrigo Vargas, Rafael Lizama, Pablo Spinsanti, Roberto Caraballo
PURPOSE: The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantile neuronal ceroid lipofuscinosis (LINCL). METHOD: The clinical charts of 35 patients seen between 1990 and 2016 were reviewed. The patients were divided into two groups: Group 1 (G1) consisting of 12 patients with NCL type 2 (CLN2) disease confirmed by enzymatic activity in dried blood spots on filter paper and/or genetic studies, and Group 2 (G2) consisting of 23 patients with a diagnosis of LINCL based on pathology studies by muscle biopsy...
May 15, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29775848/long-term-outcome-in-children-with-neonatal-seizures-a-tertiary-center-experience-in-cohort-of-168-patients
#2
Biljana Vucetic Tadic, Ruzica Kravljanac, Vlada Sretenovic, Vladislav Vukomanovic
PURPOSE: The purpose of this study was to evaluate long-term outcome and assess predictors of prognosis in children with neonatal seizures (NS). METHOD: This retrospective study includes children with NS treated at our Institute from January the 1st 2005 until December the 31st 2015. The data were collected from medical charts and the electroencephalogram (EEG) database at the Institute. The predictive value was evaluated for following parameters: (1) characteristics of the patients, such as gender, gestational age, birth body weight, Apgar score, artificial ventilation; (2) etiology; (3) characteristics of seizures such as type, time of onset, resistance to treatment; and (4) EEG background activity and paroxysmal discharges...
May 15, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29772401/evaluation-ofserum-free-carnitine-acylcarnitine-levels-and-left-ventricular-systolic-functions-in-children-with-idiopathic-epilepsy-receiving-valproic-acid
#3
Ilknur Kulhas Celik, Haydar Ali Tasdemir, Hülya Ince, Halil Celik, Metin Sungur
OBJECTIVES: In the study, the effect of valproic acid on serum free/acylcarnitine levels and left ventricular systolic function in pediatric patients with idiopathic epilepsy receiving valproic acid was investigated. PATIENTS AND METHODS: Patients receiving valproic acid treatment for six months between January 2012 and December 2012 were evaluated. Blood samples were obtained from the participants twice (pretreatment and the sixth month of treatment) and serum-free and acylcarnitine levels (from C2 to C18:1-OH) were measured using tandem mass spectrometry...
May 14, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29772390/pathobiology-of-christianson-syndrome-linking-disrupted-endosomal-lysosomal-function-with-intellectual-disability-and-sensory-impairments
#4
Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29770117/clinical-application-of-epilepsy-genetics-in-africa-is-now-the-time
#5
Alina I Esterhuizen, Gemma L Carvill, Rajkumar S Ramesar, Symon M Kariuki, Charles R Newton, Annapurna Poduri, Jo M Wilmshurst
Over 80% of people with epilepsy live in low- to middle-income countries where epilepsy is often undiagnosed and untreated due to limited resources and poor infrastructure. In Africa, the burden of epilepsy is exacerbated by increased risk factors such as central nervous system infections, perinatal insults, and traumatic brain injury. Despite the high incidence of these etiologies, the cause of epilepsy in over 60% of African children is unknown, suggesting a possible genetic origin. Large-scale genetic and genomic research in Europe and North America has revealed new genes and variants underlying disease in a range of epilepsy phenotypes...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29768152/effect-of-cannabidiol-on-drop-seizures-in-the-lennox-gastaut-syndrome
#6
Orrin Devinsky, Anup D Patel, J Helen Cross, Vicente Villanueva, Elaine C Wirrell, Michael Privitera, Sam M Greenwood, Claire Roberts, Daniel Checketts, Kevan E VanLandingham, Sameer M Zuberi
BACKGROUND: Cannabidiol has been used for treatment-resistant seizures in patients with severe early-onset epilepsy. We investigated the efficacy and safety of cannabidiol added to a regimen of conventional antiepileptic medication to treat drop seizures in patients with the Lennox-Gastaut syndrome, a severe developmental epileptic encephalopathy. METHODS: In this double-blind, placebo-controlled trial conducted at 30 clinical centers, we randomly assigned patients with the Lennox-Gastaut syndrome (age range, 2 to 55 years) who had had two or more drop seizures per week during a 28-day baseline period to receive cannabidiol oral solution at a dose of either 20 mg per kilogram of body weight (20-mg cannabidiol group) or 10 mg per kilogram (10-mg cannabidiol group) or matching placebo, administered in two equally divided doses daily for 14 weeks...
May 17, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29766538/chronic-exposure-to-cannabidiol-induces-reproductive-toxicity-in-male-swiss-mice
#7
Renata K Carvalho, Monaliza L Santos, Maingredy R Souza, Thiago L Rocha, Francisco S Guimarães, Janete A Anselmo-Franci, Renata Mazaro-Costa
Children and adults with frequent and severe episodes of epilepsy that do not respond to standard treatments (such as carbamazepine, phenytoin and valproate) have long been prescribed cannabidiol (CBD) as an anticonvulsant drug. However, the safety of its chronic use in relation to reproduction has not been fully examined. This study aimed to assess the effects of chronic CBD exposure on the male reproductive system. CBD was orally administered to 21-day-old male Swiss mice at doses of 15 and 30 mg kg-1 daily (CBD 15 and 30 groups, respectively), with a control group receiving sunflower oil, for 34 consecutive days...
May 16, 2018: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/29763803/study-of-the-mozart-effect-in-children-with-epileptic-electroencephalograms
#8
Eliza Grylls, Max Kinsky, Amy Baggott, Cecile Wabnitz, Ailsa McLellan
PURPOSE: To establish if listening to Mozart's Sonata for two pianos in D major (K448) has an anti-epileptic effect on the EEGs (electroencephalograms) of children. METHODS: Forty five children (2-18 years; mean 7 years 10 months) who had epileptiform activity on EEG were recruited from those attending for scheduled EEG investigations. Mozart's Sonata for two pianos in D major (K448) and an age-appropriate control music were played during the EEG. There were five consecutive states during the record, each lasting 5 min; before Mozart music (baseline), during Mozart music, after Mozart music/before control music, during control music and after control music...
May 9, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29761351/economic-evaluation-of-stiripentol-for-dravet-syndrome-a-cost-utility-analysis
#9
Jesse Elliott, Bláthnaid McCoy, Tammy Clifford, George A Wells, Doug Coyle
BACKGROUND: Dravet syndrome is a catastrophic form of pediatric treatment-resistant epilepsy with few effective treatment options. Stiripentol is approved for use in Canada for treatment of Dravet syndrome, but the associated long-term costs and benefits have not been well-studied and its cost effectiveness is unclear. OBJECTIVE: The aim of this study was to evaluate the cost effectiveness of stiripentol as an adjunctive treatment to clobazam and valproate for treatment of Dravet syndrome from the perspective of the Canadian public healthcare payer...
May 15, 2018: PharmacoEconomics
https://www.readbyqxmd.com/read/29761020/tested-and-reported-executive-problems-in-children-and-youth-epilepsy
#10
Erik Hessen, Kristin Å Alfstad, Halvor Torgersen, Morten I Lossius
Objectives: Executive problems in children and youth with epilepsy influence their ability to handle important aspects of daily life activities. The present study sought to explore factors associated with executive problems for patients with epilepsy in this age group. Methods: The cohort consisted of 97 consecutive patients at the National Centre for Epilepsy in Norway, aged 10-19 years, with focal or genetic generalized epilepsy. All underwent tests of executive functions (D-KEFS), the Behavior Rating Inventory for Executive Function (BRIEF), and screening for psychiatric symptoms, using the Strengths and Difficulties Questionnaire (SDQ)...
May 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29760947/incorporating-epilepsy-genetics-into-clinical-practice-a-360%C3%A2-evaluation
#11
Stephanie Oates, Shan Tang, Richard Rosch, Rosalie Lear, Elaine F Hughes, Ruth E Williams, Line H G Larsen, Qin Hao, Hans Atli Dahl, Rikke S Møller, Deb K Pal
We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and surveyed referring clinicians and families. We costed alternative investigational pathways for neonatal onset epilepsy. Patients with epilepsy of unknown aetiology onset < 2 years; treatment resistant epilepsy; or familial epilepsy were referred for counseling and testing. We developed NGS panels, performing clinical interpretation with a multidisciplinary team...
2018: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29760294/breath-profiles-of-children-on-ketogenic-therapy
#12
Vera Ruzsanyi, Miklós Péter Kalapos, Christine Schmidl, Daniela Karall, Sabine Scholl-Buergi, Matthias Baumann
Ketogenic diets (KD) were initially introduced to clinical practice as alimentary approaches with the aim to control drug-resistant epilepsies. Therapy control, particularly at initiation, happens through regular blood analysis and control of urine ketone levels. However, there is a lack of fast, reliable and preferably non-invasive methods of analysis. The exhaled breath contains hundreds of volatile organic compounds (VOCs), which can be modified by diet. The instrumental development of VOC detection converges in the direction of low cost sensors, which can facilitate the self-monitoring of the patients in the future if reliable breath markers are available...
May 15, 2018: Journal of Breath Research
https://www.readbyqxmd.com/read/29758444/yield-of-eeg-monitoring-in-children-with-developmental-disabilities-is-high
#13
Ali A Asadi-Pooya
PURPOSE: The purpose of this study was to investigate the yield of a 2-hour electroencephalography (EEG) monitoring (awake and sleep) in children with developmental disabilities and without any clinically apparent seizures. METHODS: In this retrospective study, I investigated all children below 9 years of age who had developmental disabilities and were referred to Shiraz Comprehensive Epilepsy center for electroencephalographic investigation from June 2017 until January 2018...
May 11, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29754108/knowledge-of-women-issues-and-epilepsy-among-doctors-in-sudan
#14
Awab K Elnaeim, Mohamed K Elnaeim, Ismat B A Babiker
OBJECTIVE: The objective of this study was to assess the knowledge of doctors in Sudan about women issues related to epilepsy. METHODS: In this cross-sectional study that was conducted in Sudan during the period from October 2017 to December 2017, we used Google forms to collect data from 154 doctors using Knowledge of Women Issues and Epilepsy (KOWIE) II standardized questionnaire. RESULTS: Our studied group included house officers (n = 34), medical officers (n = 60), registrars (n = 52), and specialists (n = 8)...
May 10, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29753575/quantitative-apparent-diffusion-coefficient-mapping-may-predict-seizure-onset-in-children-with-sturge-weber-syndrome
#15
Anna L R Pinto, Yangming Ou, Mustafa Sahin, P Ellen Grant
BACKGROUND: Sturge-Weber syndrome (SWS) is often accompanied by seizures, stroke-like episodes, hemiparesis, and visual field deficits. This study aimed to identify early pathophysiologic changes that exist before the development of clinical symptoms and to evaluate if the apparent diffusion coefficient (ADC) map is a candidate early biomarker of seizure risk in patients with SWS. METHODS: This is a prospective cross-sectional study using quantitative ADC analysis to predict onset of epilepsy...
April 12, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29753573/impact-of-prior-authorization-of-antiepileptic-drugs-in-children-with-epilepsy
#16
Elaine C Wirrell, Alexander J Vanderwiel, Lauren Nickels, Saskia L Vanderwiel, Katherine C Nickels
OBJECTIVE: We assessed how commonly prior authorization results in treatment delay or missed doses in children with epilepsy. METHODS: Parents of 462 children followed in a pediatric epilepsy clinic were surveyed regarding prior authorization in the preceding year. Epilepsy and insurance details were collected. If prior authorization was required, parents were asked whether it resulted in (1) delayed initiation of a newly-prescribed antiepileptic drug, and/or (2) lapse in coverage of a current medication...
April 3, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29753047/chromosomal-microarray-analysis-of-bulgarian-patients-with-epilepsy-and-intellectual-disability
#17
Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova, Dimitar Stamatov, Daniela Avdjieva-Tzavella, Iliana Alexandrova, Sashka Zhelyazkova, Iliana Pacheva, Petya Dimova, Ivan Ivanov, Ivan Litvinenko, Veneta Bozhinova, Ivailo Tournev, Emil Simeonov, Vanyo Mitev, Albena Jordanova, Radka Kaneva
High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like epileptic seizures, autism and additional congenital anomalies. These observations require whole genome approach in order to detect the genetic causes of these complex disorders...
May 9, 2018: Gene
https://www.readbyqxmd.com/read/29752173/associations-of-coexisting-conditions-with-healthcare-spending-for-children-with-cerebral-palsy
#18
Jay G Berry, Laurie Glader, Richard D Stevenson, Fareesa Hasan, Charis Crofton, Kinza Hussain, Matt Hall
OBJECTIVE: To determine which coexisting conditions have the strongest associations with healthcare use and spending among children with cerebral palsy (CP). STUDY DESIGN: Retrospective analysis of 16 695 children ages 0-18 years with CP - identified with International Classification of Diseases, Ninth Revision, Clinical Modification codes - using Medicaid from January 1, 2013 to December 31, 2013 from 10 states in the Truven MarketScan Medicaid Database. Using generalized linear models, we assessed which coexisting conditions (including medical technology) identified with Agency for Healthcare Research and Quality's Chronic Condition Indicators had the strongest associations with total healthcare spending across the healthcare continuum...
May 8, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29751354/evaluation-of-knowledge-about-epilepsy-and-attitudes-towards-patients-with-epilepsy-among-university-students-in-upper-egypt
#19
Mohamed N Thabit, Mohamed A Sayed, Magda M Ali
PURPOSE: Epilepsy is a major public health problem worldwide. There are many misconceptions about people's knowledge and attitudes about epilepsy, which influence people's behavior towards patients with epilepsy. METHODS: We conducted a cross-sectional study in Sohag University, a public Egyptian University, in Upper Egypt. We used an Arabic language designed questionnaire to assess people's knowledge about epilepsy and their attitudes towards patients with epilepsy...
May 5, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29748835/canonical-transient-receptor-potential-channel-3-contributes-to-febrile-seizure-inducing-neuronal-cell-death-and-neuroinflammation
#20
Dan Sun, Hui Ma, Jiehui Ma, Jing Wang, Xiaolong Deng, Chunhui Hu, Xianbo Deng
Febrile seizure (FS) counts as the most common seizures symptom in children undergoing recurrent seizures, posing a high risk to developing subsequent temporal lobe epilepsy. Canonical transient receptor potential channel (TRPC) members are identified as the FS-related genes in hyperthermia prone rats. However, the role of TRPC3 in hyperthermia-induced FS rats remains unclear. In the present study, we investigated whether TRPC3 functionally contributes to the development of FSs. Elevated TRPC3 mRNA and protein levels was detected in hyperthermia-induced FS rats and rat hippocampal neuron cells...
May 10, 2018: Cellular and Molecular Neurobiology
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