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Epilepsy in childhood

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https://www.readbyqxmd.com/read/29665529/electroclinical-characteristics-and-syndromic-associations-of-eye-condition-related-visual-sensitive-epilepsies-a-cross-sectional-study
#1
Kalyani Dilip Karkare, Ramshekhar N Menon, Ashalatha Radhakrishnan, Ajith Cherian, Sanjeev V Thomas
PURPOSE: The systematic study of visual phenomena such as eye closure (ECLS), eye-closed/fixation-off sensitivity (FOS) [terminology proposed as eye-condition sensitive (ECS) epilepsy] distinct from photosensitivity is rarely explored in literature. METHODS: Clinical, electroencephalographic (EEG) and imaging records of patients attending an epilepsy clinic were screened. Inclusion criterion was demonstrable electrographic visual sensitivitiy in the form of ECS parameters with/without photosensitivity...
March 30, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29656858/a-recurrent-de-novo-pacs2-heterozygous-missense-variant-causes-neonatal-onset-developmental-epileptic-encephalopathy-facial-dysmorphism-and-cerebellar-dysgenesis
#2
Heather E Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Paul A van der Zwaag, Emilia K Bijlsma, Bryan L Krock, E Backer, Erik-Jan Kamsteeg, Margje Sinnema, Margot R F Reijnders, David Bearden, Amber Begtrup, Aida Telegrafi, Roelineke J Lunsing, Lydie Burglen, Gaetan Lesca, Megan T Cho, Lacey A Smith, Beth R Sheidley, Christelle Moufawad El Achkar, Phillip L Pearl, Annapurna Poduri, Cara M Skraban, Jennifer Tarpinian, Addie I Nesbitt, Dietje E Fransen van de Putte, Claudia A L Ruivenkamp, Patrick Rump, Nicolas Chatron, Isabelle Sabatier, Julitta De Bellescize, Laurent Guibaud, David A Sweetser, Jessica L Waxler, Klaas J Wierenga, Jean Donadieu, Vinodh Narayanan, Keri M Ramsey, Caroline Nava, Jean-Baptiste Rivière, Antonio Vitobello, Frédéric Tran Mau-Them, Christophe Philippe, Ange-Line Bruel, Yannis Duffourd, Laurel Thomas, Stefan H Lelieveld, Janneke Schuurs-Hoeijmakers, Han G Brunner, Boris Keren, Julien Thevenon, Laurence Faivre, Gary Thomas, Christel Thauvin-Robinet
Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals...
April 10, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29649723/the-relevance-of-attention-deficit-hyperactivity-disorder-in-self-limited-childhood-epilepsy-with-centrotemporal-spikes
#3
Ellen Marise Lima, Patricia Rzezak, Bernardo Dos Santos, Letícia Gentil, Maria A Montenegro, Marilisa M Guerreiro, Kette D Valente
In this study, we aimed to evaluate the attentional and executive functions in patients with benign childhood epilepsy with centrotemporal spikes (BCECTS) with and without attention-deficit hyperactivity disorder (ADHD) compared with controls and compared with patients with ADHD without epilepsy. We evaluated 12 patients with BCECTS and ADHD (66.7% boys; mean age of 9.67years); 11 children with non-ADHD BCECTS (63.6% boys; mean age of 11.91years); 20 healthy children (75% boys; mean age of 10.15years); and 20 subjects with ADHD without epilepsy (60% boys; mean age of 10...
April 9, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29629540/role-of-language-related-functional-connectivity-in-patients-with-benign-childhood-epilepsy-with-centrotemporal-spikes
#4
Hyeon Jin Kim, Jung Hwa Lee, Chang Hyun Park, Hye Sun Hong, Yun Seo Choi, Jeong Hyun Yoo, Hyang Woon Lee
BACKGROUND AND PURPOSE: Benign childhood epilepsy with centrotemporal spikes (BECTS) does not always have a benign cognitive outcome. We investigated the relationship between cognitive performance and altered functional connectivity (FC) in the resting-state brain networks of BECTS patients. METHODS: We studied 42 subjects, comprising 19 BECTS patients and 23 healthy controls. Cognitive performance was assessed using the Korean version of the Wechsler Intelligence Scale for Children-III, in addition to verbal and visuospatial memory tests and executive function tests...
January 2018: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29627177/the-evolutionary-saga-of-circumcision-from-a-religious-perspective
#5
REVIEW
Venkatachalam Raveenthiran
Circumcision is the oldest surgical operation known to mankind. It probably originated as a less radical form of genital mutilation inflicted on prisoners of war. Over time it was adopted by the Egyptian priesthood and nobility, perhaps inspired by the mythology of Osiris. In turn, circumcision became part of the Jewish and Muslim religious cultures. In contrast, ancient Greeks valued an intact prepuce, as evident from the nude figures of Renaissance art. In the 19th century, circumcision was touted as a treatment for excessive masturbation, seizures, epilepsy, and paraplegia...
March 8, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29620010/epilepsy-surgery-for-patients-with-genetic-refractory-epilepsy-a-systematic-review
#6
Remi Stevelink, Maurits Wcb Sanders, Maarten P Tuinman, Eva H Brilstra, Bobby Pc Koeleman, Floor E Jansen, Kees Pj Braun
In recent years, many different DNA mutations underlying the development of refractory epilepsy have been discovered. However, genetic diagnostics are still not routinely performed during presurgical evaluation and reports on epilepsy surgery outcome for patients with genetic refractory epilepsy are limited. We aimed to create an overview of the literature on seizure outcome following epilepsy surgery in patients with different genetic causes of refractory epilepsy. We systematically searched PubMed and Embase prior to January 2017 and included studies describing treatment outcome following epilepsy surgery in patients with genetic causes of epilepsy...
April 5, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29620008/de-novo-late-onset-absence-status-epilepticus-or-late-onset-idiopathic-generalized-epilepsy-a-case-report-and-systematic-review-of-the-literature
#7
Francesco Brigo, Veronica Tavernelli, Raffaele Nardone, Eugen Trinka
Idiopathic (genetic) generalized epilepsies (IGEs) are age-related epileptic syndromes with typical age onset in childhood or adolescence. We report a patient with de novo late-onset absence status epilepticus (ASE) occurring at the age of 64 years, with clinical and EEG features suggestive of late-onset IGE. We also discuss the relationship between de novo late-onset ASE and late-onset IGE, and provide a comprehensive and critical review of the available literature on late-onset (i.e. onset ≥60 years) IGE...
April 5, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29618625/getting-serious-about-the-early-life-epilepsies-lessons-from-the-world-of-pediatric-oncology
#8
REVIEW
Anne T Berg, Stewart Goldman
Early-life epilepsies represent a group of many individually rare and often complex developmental brain disorders associated with lifelong devastating consequences and high risk for early mortality. The quantity and quality of evidence needed to guide the evaluation and treatment to optimize outcomes of affected children is minimal; most children are treated within an evidence-free practice zone based solely on anecdote and lore. The remarkable advances in diagnostics and therapeutics are implemented haphazardly with no systematic effort to understand their effects and value...
April 4, 2018: Neurology
https://www.readbyqxmd.com/read/29615062/kars-related-diseases-progressive-leukoencephalopathy-with-brainstem-and-spinal-cord-calcifications-as-new-phenotype-and-a-review-of-literature
#9
Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
BACKGROUND: KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been reported to date. The associated clinical phenotype is heterogeneous ranging from early onset encephalopathy to isolated peripheral neuropathy or nonsyndromic hearing impairment. Recently additional presentations including leukoencephalopathy as predominant cerebral involvement or cardiomyopathy, isolated or associated with muscular and cerebral involvement, have been reported...
April 4, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29610157/clinical-benefit-of-nmda-receptor-antagonists-in-a-patient-with-atp1a2-gene-mutation
#10
Keisuke Ueda, Fatema Serajee, Ahm M Huq
Mutations in the ATP1A2 gene cause familial hemiplegic migraine type 2, alternating hemiplegia of childhood, and cerebellar function deficits, epilepsy, and mental retardation. These symptoms are likely related to glutamatergic hyperexcitability. Our patient is a 12-year-old boy with a history of complex partial seizures, attention-deficit/hyperactivity disorder, and fine motor difficulty. During early childhood, he had episodes of a self-resolving right-sided hemiparesis and focal epilepsy. His seizures did not respond to several antiepileptic medications but stopped after he received valproate...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29610055/language-function-in-childhood-idiopathic-epilepsy-syndromes
#11
D C Jackson, J E Jones, D A Hsu, C E Stafstrom, J J Lin, D Almane, M A Koehn, M Seidenberg, B P Hermann
PURPOSE: To examine the impact of diverse syndromes of focal and generalized epilepsy on language function in children with new and recent onset epilepsy. Of special interest was the degree of shared language abnormality across epilepsy syndromes and the unique effects associated with specific epilepsy syndromes. METHODS: Participants were 136 youth with new or recent-onset (diagnosis within past 12 months) epilepsy and 107 healthy first-degree cousin controls...
March 30, 2018: Brain and Language
https://www.readbyqxmd.com/read/29607562/risk-factors-and-topographies-for-self-injurious-behaviour-in-a-sample-of-adults-with-intellectual-developmental-disorders
#12
A Folch, M J Cortés, L Salvador-Carulla, P Vicens, M Irazábal, S Muñoz, L Rovira, C Orejuela, J M Haro, E Vilella, R Martínez-Leal
BACKGROUND: Self-injurious behaviour (SIB) is a prevalent form of challenging behaviour in people with intellectual developmental disorders (IDD). Existing research has yielded conflicting findings concerning the major risk factors involved, and in addition, SIB shows multiple topographies and presentations. Although presence of autism spectrum disorders (ASD) and severity of intellectual disability (ID) are known risk factors for SIB, there are no studies comparing SIB topographies by severity degrees of ID and ASD...
April 1, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29602081/juvenile-myoclonic-epilepsy-refractory-to-treatment-in-a-tertiary-referral-center
#13
Gonçalo Cação, Joana Parra, Shahidul Mannan, Sanjay M Sisodiya, Josemir W Sander
INTRODUCTION: Juvenile myoclonic epilepsy (JME) is an epileptic syndrome often regarded as one in which seizures are relatively easy to control. Individuals with JME, however, often require lifelong therapy to remain seizure-free, and a few have refractory epilepsy. We ascertained a population with JME and characterized a subgroup with refractory epilepsy. MATERIAL AND METHODS: We audited and reviewed clinical records of individuals diagnosed with JME identified via a sample of 6600 individuals in a clinical database from a specialized epilepsy clinic at a tertiary referral center...
March 26, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29594870/treatment-strategies-for-dravet-syndrome
#14
REVIEW
Kelly G Knupp, Elaine C Wirrell
Dravet syndrome (DS) is a medically refractory epilepsy that onsets in the first year of life with prolonged seizures, often triggered by fever. Over time, patients develop other seizure types (myoclonic, atypical absences, drops), intellectual disability, crouch gait and other co-morbidities (sleep problems, autonomic dysfunction). Complete seizure control is generally not achievable with current therapies, and the goals of treatment are to balance reduction of seizure burden with adverse effects of therapies...
March 28, 2018: CNS Drugs
https://www.readbyqxmd.com/read/29593509/tantrums-emotion-reactions-and-their-eeg-correlates-in-childhood-benign-rolandic-epilepsy-vs-complex-partial-seizures-exploratory-observations
#15
Michael Potegal, Elena H Drewel, John T MacDonald
We explored associations between EEG pathophysiology and emotional/behavioral (E/B) problems of children with two types of epilepsy using standard parent questionnaires and two new indicators: tantrums recorded by parents at home and brief, emotion-eliciting situations in the laboratory. Children with Benign Rolandic epilepsy (BRE, N = 6) reportedly had shorter, more angry tantrums from which they recovered quickly. Children with Complex Partial Seizures (CPS, N = 13) had longer, sadder tantrums often followed by bad moods...
2018: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/29588987/single-item-measure-for-assessing-quality-of-life-in-children-with-drug-resistant-epilepsy
#16
Lauryn Conway, Elysa Widjaja, Mary Lou Smith
Objective: The current study investigated the psychometric properties of a single-item quality of life (QOL) measure, the Global Quality of Life in Childhood Epilepsy question (G-QOLCE), in children with drug-resistant epilepsy. Method: Data came from the Impact of Pediatric Epilepsy Surgery on Health-Related Quality of Life Study (PESQOL), a multicenter prospective cohort study (n = 118) with observations collected at baseline and at 6 months of follow-up on children aged 4-18 years...
March 2018: Epilepsia Open
https://www.readbyqxmd.com/read/29588970/prevalence-risk-factors-and-neurobehavioral-comorbidities-of-epilepsy-in-kenyan-children
#17
Charles J Kind, Charles R J C Newton, Symon M Kariuki
Objective: To investigate the prevalence, risk factors, clinical features, and neurobehavioral comorbidities of epilepsy and acute symptomatic seizures in school-aged children in Kilifi, Kenya. Methods: Randomly selected children (N = 11,223) were screened for epilepsy and other neurodevelopmental disorders. Those who screened positive were invited for further clinical, electroencephalographic (EEG), and neuropsychological evaluations. Prevalence was measured by dividing cases by screened population, providing Agresti-Coull confidence intervals (CIs)...
December 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29588952/gene-panel-analysis-for-nonsyndromic-cryptogenic-neonatal-infantile-epileptic-encephalopathy
#18
Cheuk-Wing Fung, Anna Ka-Yee Kwong, Virginia Chun-Nei Wong
Objective: Epileptic encephalopathy (EE) is a heterogeneous condition associated with deteriorations of cognitive, sensory and/or motor functions as a consequence of epileptic activity. The phenomenon is the most common and severe in infancy and early childhood. Genetic-based diagnosis in EE patients is challenging owing to genetic and phenotypic heterogeneity of numerous monogenic disorders and the fact that thousands of genes are involved in neurodevelopment. Therefore, high-throughput next-generation sequencing (NGS) was used to investigate the genetic causes of non-syndromic cryptogenic neonatal/infantile EE (NIEE)...
June 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29579553/a-systematic-review-of-quality-of-life-in-parents-of-children-with-epilepsy
#19
REVIEW
Klajdi Puka, Tamara P Tavares, Kelly K Anderson, Mark A Ferro, Kathy N Speechley
OBJECTIVES: This systematic review aimed to 1) describe the quality of life (QOL) of parents of children with childhood-onset epilepsy (CWE), 2) identify factors associated with parental QOL, and 3) evaluate the association between parents' QOL and children's psychological well-being. METHODS: We conducted a comprehensive search of MEDLINE, EMBASE, and PsycINFO and conducted forward and backward citation tracking. A total of 15 articles met inclusion criteria. Parents' QOL was compared with population norms, healthy controls, and parents of children with other chronic conditions...
March 23, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29573802/milk-nutrition-and-childhood-epilepsy-an-ex-vivo-study-on-cytokines-and-oxidative-stress-in-response-to-milk-protein-fractions
#20
M Albenzio, A Santillo, M G Ciliberti, L Figliola, M Caroprese, A N Polito, G Messina
We present a pilot study on the effects of milk protein fractions [αS1 -casein (CN), αS2 -CN, κ-CN, β-CN, and a mix of α-lactalbumin (α-LA) and β-lactoglobulin (β-LG)] from different animal species (bovine, ovine, and caprine) on pro- and anti-inflammatory cytokines and oxidative status in cultured peripheral blood mononuclear cells from children with generalized epilepsy. Peripheral blood mononuclear cells (PBMC) were obtained by density gradient from blood of 10 children with generalized epilepsy (5 males; mean age 33...
March 21, 2018: Journal of Dairy Science
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