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Epilepsy in childhood

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https://www.readbyqxmd.com/read/29223885/three-novel-slc2a1-mutations-in-bulgarian-patients-with-different-forms-of-genetic-generalized-epilepsy-reflecting-the-clinical-and-genetic-diversity-of-glut1-deficiency-sydnrome
#1
Nevyana Ivanova, Valentina Peycheva, Kunka Kamenarova, Dalia Kancheva, Irina Tsekova, Iliana Aleksandrova, Dimitrina Hristova, Ivan Litvinenko, Diana Todorova, Gergana Sarailieva, Petya Dimova, Veselin Tomov, Veneta Bozhinova, Vanio Mitev, Radka Kaneva, Albena Jordanova
PURPOSE: GLUT1-deficiency syndrome (GLUT1-DS) is a metabolic brain disorder with a great clinical heterogeneity underlined by various mutations in the SLC2A1 gene which make the clinical and genetic diagnosis complicated. The purpose of our study is to investigate the genetic defects affecting the SLC2A1 gene in a group of Bulgarian patients with genetic generalized epilepsy (GGE), and to bring new insights into the molecular pathology of GLUT1-DS that would strengthen the genotype-phenotype correlations and improve the diagnostic procedure...
November 28, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29218870/loss-of-function-of-neuroplasticity-related-genes-confers-risk-for-human-neurodevelopmental-disorders
#2
Milo R Smith, Benjamin S Glicksberg, Li Li, Rong Chen, Hirofumi Morishita, Joel T Dudley
High and increasing prevalence of neurodevelopmental disorders place enormous personal and economic burdens on society. Given the growing realization that the roots of neurodevelopmental disorders often lie in early childhood, there is an urgent need to identify childhood risk factors. Neurodevelopment is marked by periods of heightened experience-dependent neuroplasticity wherein neural circuitry is optimized by the environment. If these critical periods are disrupted, development of normal brain function can be permanently altered, leading to neurodevelopmental disorders...
2018: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/29213044/-the-course-and-development-of-epilepsy-in-patients-with-typical-variant-of-rett-syndrome-and-mutations
#3
M Yu Bobylova, I V Ivanova, I V Nekrasova, O A Pylaeva, K Yu Mukhin, A A Kholin, Ek S Iljina, A V Kulikov, El S Iljina, Yu E Nesterovsky
AIM: To study the anamnesis, clinical state, electro-encephalographic and brain MRI characteristics in patients with Rett syndrome (МЕСР2) and epilepsy. MATERIAL AND METHODS: Eleven female patients, aged from 3 to 23 years, with Rett syndrome and MeCP2 mutations were studied. The study continued for 10 years (2006-2015). Assessment of neurological and mental status, night sleep video-EEG monitoring, MRI were performed. RESULTS AND CONCLUSION: Epilepsy was diagnosed in six cases (54...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29213042/-new-opportunities-in-the-optimization-of-epilepsy-treatment-in-adolescents
#4
V I Guzeva, I V Okhrim, O V Guzeva, V V Guzeva, N E Maksimova
In the pubertal period, the most severe forms of childhood epilepsy persist and are modified; genetically determined syndromes, atypical for early and late age periods, make their debut. Hereditary predisposition, instability of homeostatic mechanisms, neuroendocrine restructuring at the age of puberty and the influence of factors contributing to the realization of a genetic defect lead to a long-term transformation of mediator systems and formation of epileptic activity in adolescents. The authors present common approaches in the treatment and characterization of the modern antiepileptic drug perampanel, which is highly effective in treatment of patients with resistant forms of epilepsy...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29209390/the-mechanism-of-anti-epileptogenesis-by-levetiracetam-treatment-is-similar-to-the-spontaneous-recovery-of-idiopathic-generalized-epilepsy-during-adolescence
#5
Hiroki Kikuyama, Tadahito Hanaoka, Tetsufumi Kanazawa, Yasushi Yoshida, Takafumi Mizuno, Hirotaka Toyoda, Hiroshi Yoneda
Objective: The anti-epileptogenic drug levetiracetam has anticonvulsant and anti-epileptogenesis effects. Synergy between cell death and inflammation can lead to increased levels of apoptosis inhibitory factors and brain-derived neurotrophic factor, aberrant neurogenesis and extended axon sprouting. Once hyperexcitation of the neural network occurs, spontaneous seizures or epileptogenesis develops. This study investigated whether the anti-epileptogenic effect of levetiracetam is due to its alternate apoptotic activity...
November 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/29208197/-treatment-of-rolandic-epilepsy
#6
Maria Jose Miranda, Banoo Bakir Ahmad
Recent literature indicates, that rolandic epilepsy/epilepsy of childhood with centrotemporal spikes may not be as benign as previously assumed. This study investigates the existing evidence, which describes the treatment effects on seizure frequency as well as improvement of cognition in children with rolandic epilepsy. We conclude, that treatment with anti-epileptic drugs could be justified, if treatment reduces seizures, prevents the evolution to atypical forms, or diminishes the negative cognitive consequences associated with the disease...
November 27, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29196143/intravenous-immunoglobulin-g-as-adjuvant-treatment-in-drug-resistant-childhood-epilepsy
#7
Z González-Castillo, E Solórzano Gómez, A Torres-Gómez, J A Venta Sobero, J Gutiérrez Moctezuma
BACKGROUND: Epilepsy is the most common neurological disease in childhood; depending on the definition of drug-resistant epilepsy, incidence varies from 10% to 23% in the paediatric population. The objective of this study was to account for the decrease in the frequency and/or monthly duration of epileptic seizures in paediatric patients with drug-resistant epilepsy treated with antiepileptic drugs, before and after adding intravenous immunoglobulin G (iIV IgG). METHODS: This is an analytic, observational, retrospective case-control study...
November 28, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/29195225/stigma-and-functional-disability-in-relation-to-marriage-and-employment-in-young-people-with-epilepsy-in-rural-tanzania
#8
Jack Goodall, Sabrine Salem, Richard W Walker, William K Gray, Kathryn Burton, Ewan Hunter, Jane Rogathi, Esther Shali, Ali Mohin, Declare Mushi, Stephen Owens
PURPOSE: To assess the impact of childhood epilepsy on social transitioning outcomes for young people with epilepsy (YPWE) living in Tanzania, and to explore influences on these outcomes. METHODS: At six years from baseline, we followed up 84 YPWE and 79 age- sex- and village- matched controls recruited into a case-control study of childhood epilepsy in rural northern Tanzania. Data were collected from interviews with young people and their carers using a structured questionnaire...
November 26, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29187023/biopsy-proven-hepatocellular-carcinoma-in-a-53-year-old-woman-with-arginase-deficiency
#9
Matthew Koo, Gerald S Lipshutz, Stephen D Cederbaum, Charles Lassman
Arginase 1 deficiency, the least common urea cycle disorder, commonly presents with childhood-onset spastic paraplegia, progressive neurologic impairment, epilepsy, and developmental delay or regression. Biopsy-proven cirrhosis and hepatocellular carcinoma diagnosed via clinical and imaging studies (but without biopsy confirmation) have been previously reported. We report, herein, a case of a 53-year-old woman with arginase 1 deficiency who developed symptoms of "abdominal bloating." Imaging studies (ultrasound and magnetic resonance imaging) demonstrated 2 dominant hepatic masses, measuring 5...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29186479/febrile-seizures-prior-to-sudden-cardiac-death-a-danish-nationwide-study
#10
Niels Kjær Stampe, Charlotte Glinge, Reza Jabbari, Thea Bjune, Bjarke Risgaard, Jacob Tfelt-Hansen, Bo Gregers Winkel
Aims: Febrile seizure (FS) is a common disorder affecting 2-5% of children up to 5 years of age. The aim of this study was to determine whether FS in early childhood are over-represented in young adults dying from sudden cardiac death (SCD). Methods and results: We included all deaths (n = 4595) nationwide and through review of all death certificates, we identified 245 SCD in Danes aged 1-30 years in 2000-09. Through the usage of nationwide registries, we identified all persons admitted with first FS among SCD cases (14/245; 5...
November 23, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29183384/core-health-outcomes-in-childhood-epilepsy-choice-protocol-for-the-selection-of-a-core-outcome-set
#11
Christopher Morris, Colin Dunkley, Frances M Gibbon, Janet Currier, Deborah Roberts, Morwenna Rogers, Holly Crudgington, Lucy Bray, Bernie Carter, Dyfrig Hughes, Catrin Tudur Smith, Paula R Williamson, Paul Gringras, Deb K Pal
BACKGROUND: There is increasing recognition that establishing a core set of outcomes to be evaluated and reported in trials of interventions for particular conditions will improve the usefulness of health research. There is no established core outcome set for childhood epilepsy. The aim of this work is to select a core outcome set to be used in evaluative research of interventions for children with rolandic epilepsy, as an exemplar of common childhood epilepsy syndromes. METHODS: First we will identify what outcomes should be measured; then we will decide how to measure those outcomes...
November 28, 2017: Trials
https://www.readbyqxmd.com/read/29179740/childhood-disability-in-malawi-a-population-based-assessment-using-the-key-informant-method
#12
Myroslava Tataryn, Sarah Polack, Linda Chokotho, Wakisa Mulwafu, Petros Kayange, Lena Morgon Banks, Christiane Noe, Chris Lavy, Hannah Kuper
BACKGROUND: Epidemiological data on childhood disability are lacking in Low and Middle Income countries (LMICs) such as Malawi, hampering effective service planning and advocacy. The Key Informant Method (KIM) is an innovative, cost-effective method for generating population data on the prevalence and causes of impairment in children. The aim of this study was to use the Key Informant Method to estimate the prevalence of moderate/severe, hearing, vision and physical impairments, intellectual impairments and epilepsy in children in two districts in Malawi and to estimate the associated need for rehabilitation and other services...
November 28, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/29173786/drug-treatment-of-seizures-and-epilepsy-in-newborns-and-children
#13
REVIEW
Louis T Dang, Faye S Silverstein
The mainstay of treatment of childhood epilepsy is to administer antiepileptic drugs (AEDs). This article provides an overview of the clinical approach to drug treatment of childhood epilepsy, focusing on general principles of therapy and properties of recently introduced medications. Initiation and cessation of therapy, adverse medication effects, drug interactions, indications for the various AEDs, and off-label use of AEDs are reviewed. The distinct challenges in treatment of epileptic spasms and neonatal seizures are addressed...
December 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29157096/complementary-and-alternative-medicine-the-mozart-effect-on-childhood-epilepsy-a-systematic-review
#14
Dana E Brackney, Jessica L Brooks
This systematic review examines the effectiveness of Mozart's music in decreasing seizures in children with epilepsy (Mozart Effect) using the Johns Hopkins Nursing Evidence-Based Practice rating scale(©). A search for articles with "Mozart Effect," "child*," and "epilepsy" was conducted in CINAHL Complete, Science Direct, Cochrane, and PubMed databases. Eight studies were selected based on the exclusion and inclusion criteria after removal of duplicates ( n = 17) and others ( n = 46). Studies included were English language, peer reviewed, published between April 2010 and February 2017, and available in full text with an abstract...
January 1, 2017: Journal of School Nursing: the Official Publication of the National Association of School Nurses
https://www.readbyqxmd.com/read/29130289/development-and-pilot-testing-of-a-parent-reported-health-related-quality-of-life-measure-for-children-on-the-ketogenic-diet-the-ketoqol
#15
Katie Barwick, Tamara Parker, Nicole Murphy, Alwyn Todd, Michael Leveritt, Shelley A Wilkinson
AIM: The aim of the present study was to develop a parent-reported tool that will measure health-related quality of life (HRQoL) in children following ketogenic diet (KD) therapies for refractory epilepsy once it has been pilot tested and analysed. METHODS: Parents of children following KD therapies for epilepsy were recruited through a public hospital in Queensland, Australia, in 2012 and 2014. Qualitative semistructured interviews were conducted in 2012 with 13 parents who described changes seen in their child's HRQoL while on the KD...
November 2017: Nutrition & Dietetics: the Journal of the Dietitians Association of Australia
https://www.readbyqxmd.com/read/29128679/early-onset-epileptic-encephalopathy-with-de-novo-scn8a-mutation
#16
Yangyang Xiao, Jie Xiong, Ding'an Mao, Lingjuan Liu, Jian Li, Xingfang Li, Haiyan Luo, Liqun Liu
Early-onset epileptic encephalopathies (EOEEs) are clinically and genetically heterogeneous disorders characterized by intractable seizures and unremitting interictal paroxysmal epileptiform activity. Consequently, these syndromes impair neurodevelopment during the first year of life. Currently, the etiology of these disorders is largely unknown. In this study, Childhood-Onset Epilepsy Gene Panel Testing (containing 511 epilepsy-related genes) was performed in a parent-offspring trio. In this family, the son had refractory seizures, intellectual disability, and motor abnormalities, and he was diagnosed with EOEE...
October 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29126048/lennox-gastaut-syndrome-in-adulthood-long-term-clinical-follow-up-of-38-patients-and-analysis-of-their-recorded-seizures
#17
Aglaia Vignoli, Gaia Oggioni, Giovanni De Maria, Angela Peron, Miriam Nella Savini, Elena Zambrelli, Valentina Chiesa, Francesca La Briola, Katherine Turner, Maria Paola Canevini
Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy with childhood onset that usually continues through adolescence and into adulthood. In the long term, patients with this condition still have intractable seizures, intellectual disability, behavioral problems, and physical comorbidities. The aim of this study was to describe the clinical and EEG characteristics of a group of adults with Lennox-Gastaut syndrome. We identified 38 (22 females, 16 males) patients with LGS older than age 18years at their last evaluation, with mean age of 43...
November 7, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29116485/prevalence-risk-factors-and-response-to-treatment-for-hypersomnia-of-central-origin-in-survivors-of-childhood-brain-tumors
#18
Raja B Khan, Thomas E Merchant, Zsila S Sadighi, Mercedes S Bello, Zhaohua Lu, April Sykes, Merrill S Wise, Valerie M Crabtree, Jennifer Zabrowski, Andrea Simmons, Mary E Clark, Belinda N Mandrell
Daytime sleepiness is recognized in childhood brain tumor survivors. Our objective was to determine prevalence, risk factors for PSG/MLST proven hypersomnia/narcolepsy, and response to stimulants in childhood brain tumor survivors. Standard PSG/MSLT criteria were used to diagnose hypersomnia/narcolepsy. Medical records of brain tumor survivors having undergone a PSG/MSLT were reviewed for the diagnostic code of hypersomnia/narcolepsy. Survivors with hypersomnia/narcolepsy were matched with 2-3 survivors without reported hypersomnia/narcolepsy by age at tumor diagnosis, gender, and time from tumor diagnosis...
November 8, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29106684/frontal-lobe-epilepsy-surgery-in-childhood-and-adolescence-predictors-of-long-term-seizure-freedom-overall-cognitive-and-adaptive-functioning
#19
Georgia Ramantani, Navah Ester Kadish, Hans Mayer, Constantin Anastasopoulos, Kathrin Wagner, Gitta Reuner, Karl Strobl, Susanne Schubert-Bast, Gert Wiegand, Armin Brandt, Rudolf Korinthenberg, Irina Mader, Vera van Velthoven, Josef Zentner, Andreas Schulze-Bonhage, Thomas Bast
BACKGROUND: Although frontal lobe resections account for one-third of intralobar resections in pediatric epilepsy surgery, there is a dearth of information regarding long-term seizure freedom, overall cognitive and adaptive functioning. OBJECTIVE: To identify outcome predictors and define the appropriate timing for surgery. METHODS: We retrospectively analyzed the data of 75 consecutive patients aged 10.0 ± 4.9 yr at surgery that had an 8...
July 5, 2017: Neurosurgery
https://www.readbyqxmd.com/read/29095389/paroxysmal-tonic-upgaze-in-children-three-case-reports-and-a-review-of-the-literature
#20
Ayse Kartal
BACKGROUND: In clinical practice, nonepileptic paroxysmal events during infancy and childhood are common reasons for parents and caregivers to seek for medical advice. These events are mostly unrecognized and considered as an epileptic seizure because of the clinical features resembling an epileptic seizure. Paroxysmal tonic upgaze, which consists of recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness, is a diagnostic challenge for the pediatrician and pediatric neurologist...
October 31, 2017: Pediatric Emergency Care
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