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Epilepsy in childhood

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https://www.readbyqxmd.com/read/28210849/developmental-changes-in-notch1-and-nle1-expression-in-a-genetic-model-of-absence-epilepsy
#1
Fariba Karimzadeh, Sayed Mostafa Modarres Mousavi, Fatemeh Alipour, Hassan Hosseini Ravandi, Stjepana Kovac, Ali Gorji
Childhood absence epilepsy (CAE) is an epilepsy syndrome with seizures occurring in the early childhood, highlighting that seizures susceptibility in CAE is dependent on brain development. The Notch 1 signalling pathway is important in brain development, yet the role of the Notch1 signalling pathway in CAE remains elusive. We here explored Notch1 and its modulator notchless homologue 1 (NLE1) expression in WAG/Rij and control rats using immunohistochemistry. Functional Notch 1 effects were assessed in WAG/Rij rats in vivo...
February 16, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28209769/seizures-in-children-with-cerebral-palsy-and-white-matter-injury
#2
Monica S Cooper, Mark T Mackay, Michael Fahey, Dinah Reddihough, Susan M Reid, Katrina Williams, A Simon Harvey
OBJECTIVE: The goal of this study was to describe the prevalence, syndromes, and evolution of seizure disorders in children with cerebral palsy (CP) due to white matter injury (WMI). METHODS: For this population-based cohort study, brain MRI scans and medical records were reviewed in children in the Victorian Cerebral Palsy Register born between 1999 and 2006 recorded as having WMI. Children were excluded if they had features of an undiagnosed syndrome, associated cortical malformation or injury, or no medical contact in the preceding year...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28209266/changes-in-functional-organization-and-functional-connectivity-during-story-listening-in-children-with-benign-childhood-epilepsy-with-centro-temporal-spikes
#3
Jennifer Vannest, Thomas C Maloney, Jeffrey R Tenney, Jerzy P Szaflarski, Diego Morita, Anna W Byars, Mekibib Altaye, Scott K Holland, Tracy A Glauser
Children with Benign Epilepsy with Centrotemporal Spikes (BECTS), despite high likelihood for seizure remission, are reported to have subtle difficulties in language and other cognitive skills. We used functional MRI and a story listening task to examine the effect of BECTS on patterns of activation and connectivity. Language and cognitive skills were assessed using standardized measures. Twenty-four children with recently diagnosed BECTS and 40 typically-developing children participated. In a functionally-defined region of interest in right inferior frontal gyrus, BECTS patients showed a lower level of activation...
February 13, 2017: Brain and Language
https://www.readbyqxmd.com/read/28203222/unexpected-death-of-a-child-with-complex-febrile-seizures-pathophysiology-similar-to-sudden-unexpected-death-in-epilepsy
#4
Brian J Dlouhy, Michael A Ciliberto, Christina L Cifra, Patricia A Kirby, Devin L Shrock, Marcus Nashelsky, George B Richerson
Febrile seizures are usually considered relatively benign. Although some cases of sudden unexplained death in childhood have a history of febrile seizures, no documented case of febrile seizure-induced death has been reported. Here, we describe a child with complex febrile seizures who died suddenly and unexpectedly after a suspected seizure while in bed at night during the beginning phases of sleep. She was resuscitated and pronounced brain dead 2 days later at our regional medical center. Autopsy revealed multiorgan effects of hypoperfusion and did not reveal an underlying (precipitating) disease, injury, or toxicological cause of death...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28203156/papular-epidermal-nevus-with-skyline-basal-cell-layer-syndrome-natural-course-case-report-and-literature-review
#5
Carole Anouk Zahn, Peter Itin
Papular epidermal nevus with "skyline" basal cell layer (PENS) is a very rare type of keratinocytic nevus and is associated with extracutaneous findings such as neurological symptoms in about 50% of the cases. Therefore, it is also referred to as PENS syndrome. Clinically visible hyperkeratotic papules and plaques already appear at birth or shortly thereafter, while neurological symptoms such as epilepsy and mental retardation manifest themselves during childhood. Genetics suggests gonadal mosaicism as a possible cause for the disease...
January 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28202406/cannabis-cultivation-methodological-issues-for-obtaining-medical-grade-product
#6
REVIEW
Suman Chandra, Hemant Lata, Mahmoud A ElSohly, Larry A Walker, David Potter
As studies continue to reveal favorable findings for the use of cannabidiol in the management of childhood epilepsy syndromes and other disorders, best practices for the large-scale production of Cannabis are needed for timely product development and research purposes. The processes of two institutions with extensive experience in producing large-scale cannabidiol chemotype Cannabis crops-GW Pharmaceuticals and the University of Mississippi-are described, including breeding, indoor and outdoor growing, harvesting, and extraction methods...
February 12, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28199897/real-world-utility-of-whole-exome-sequencing-with-targeted-gene-analysis-for-focal-epilepsy
#7
Piero Perucca, Ingrid E Scheffer, A Simon Harvey, Paul A James, Sebastian Lunke, Natalie Thorne, Clara Gaff, Brigid M Regan, John A Damiano, Michael S Hildebrand, Samuel F Berkovic, Terence J O'Brien, Patrick Kwan
OBJECTIVE: Driven by advances in genomic technology and reduction in costs, next-generation sequencing (NGS) is venturing into routine clinical care. The 'real-world' clinical utility of NGS remains to be determined in focal epilepsies, which account for 60% of all epilepsies and for which the importance of genetic factors is just beginning to emerge. We investigated the diagnostic yield and management implications of whole exome sequencing (WES)-based screening of selected genes in the routine care of common focal epilepsies suspected to have a genetic basis...
February 7, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28199002/validating-the-shortened-quality-of-life-in-childhood-epilepsy-questionnaire-qolce-55-in-a-sample-of-children-with-drug-resistant-epilepsy
#8
Lauryn Conway, Elysa Widjaja, Mary Lou Smith, Kathy N Speechley, Mark A Ferro
OBJECTIVE: The aim of this study was to validate the newly developed shortened Quality of Life in Childhood Epilepsy Questionnaire (QOLCE-55) in a sample of children with drug-resistant epilepsy. METHODS: Data came from 136 children enrolled in the Impact of Pediatric Epilepsy Surgery on Health-Related Quality of Life Study (PEPSQOL), a multicenter prospective cohort study. Confirmatory factor analysis was used to assess the higher-order factor structure of the QOLCE-55...
February 15, 2017: Epilepsia
https://www.readbyqxmd.com/read/28195639/ethosuximide-sodium-valproate-or-lamotrigine-for-absence-seizures-in-children-and-adolescents
#9
REVIEW
Francesco Brigo, Stanley C Igwe
BACKGROUND: This is an updated version of the original Cochrane review originally published in 2003, Issue 3, and updated in 2005, Issue 4.Absence seizures are brief epileptic seizures which present in childhood and adolescence. Depending on clinical features and electroencephalogram (EEG) findings they are divided into typical, atypical absences, and absences with special features. Typical absences are characterised by sudden loss of awareness and an EEG typically shows generalised spike wave discharges at three cycles per second...
February 14, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28195311/reduced-local-input-to-fast-spiking-interneurons-in-the-somatosensory-cortex-in-the-gabaa-%C3%AE-2-r43q-mouse-model-of-absence-epilepsy
#10
Stephen P Currie, Liliana L Luz, Sam A Booker, David J A Wyllie, Peter C Kind, Michael I Daw
OBJECTIVE: Absence seizures in childhood absence epilepsy are initiated in the thalamocortical (TC) system. We investigated if these seizures result from altered development of the TC system before the appearance of seizures in mice containing a point mutation in γ-aminobutyric acid A (GABAA ) receptor γ2 subunits linked to childhood absence epilepsy (R43Q). Findings from conditional mutant mice indicate that expression of normal γ2 subunits during preseizure ages protect from later seizures...
February 13, 2017: Epilepsia
https://www.readbyqxmd.com/read/28192756/scn1a-clinical-spectrum-includes-the-self-limited-focal-epilepsies-of-childhood
#11
Sara Kivity, Karen L Oliver, Zaid Afawi, John A Damiano, Todor Arsov, Melanie Bahlo, Samuel F Berkovic
INTRODUCTION: Amongst autosomal dominant genetic epilepsy with febrile seizures plus (GEFS+) families, SCN1A variants are the most common genetic cause. Initially regarded as a generalized form of epilepsy, the GEFS+ spectrum is now known to include some focal epilepsies, but it is generally not conceptualized as extending to the self-limited focal epilepsies of childhood, such as Panayiotopoulos syndrome. There are, however, three reports of SCN1A variants in Panayiotopoulos syndrome...
February 4, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28188045/treatment-issues-for-children-with-epilepsy-transitioning-to-adult-care
#12
REVIEW
Rima Nabbout, Carol S Camfield, Danielle M Andrade, Alexis Arzimanoglou, Catherine Chiron, Joyce A Cramer, Jacqueline A French, Eric Kossoff, Marco Mula, Peter R Camfield
This is the third of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper focuses on treatment issues that arise during the course of childhood epilepsy and make the process of transition to adult care more complicated. Some AEDs used during childhood, such as stiripentol, vigabatrin, and cannabidiol, are unfamiliar to adult epilepsy specialists. In addition, new drugs are being developed for treatment of specific childhood onset epilepsy syndromes and have no indication yet for adults...
February 7, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28187363/epilepsy-birth-weight-and-academic-school-readiness-in-canadian-children-data-from-the-national-longitudinal-study-of-children-and-youth
#13
A N Prasad, B Corbett
PURPOSE: Birth weight is an important indicator of prenatal/in-utero environment. Variations in birth weight have been reportedly associated with risks for cognitive problems. The National Longitudinal Survey of Children and Youth (NLSCY) dataset was explored to examine relationships between birth weight, academic school readiness and epilepsy. METHODS: A population based sample of 32,900 children of the NLSCY were analyzed to examine associations between birth weight, and school readiness scores in 4-5-year-old children...
January 12, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28183009/similarities-and-differences-in-the-meanings-children-and-their-parents-attach-to-epilepsy-medications
#14
Michelle Webster
By exploring the meanings children and their parents attached to two household treatments for childhood epilepsy (antiepileptic drugs and emergency medications), this paper broadens our understanding of the ways in which children view their medications and how these views can impact on their adherence to treatment. The paper draws on data collected during 2013 and 2014 from 24 families across the UK that had a child with epilepsy aged 3-13 years. In-depth semi-structured interviews were conducted with the parents and 10 children participated in autodriven photo-elicitation interviews...
February 1, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28182669/a-de-novo-loss-of-function-grin2a-mutation-associated-with-childhood-focal-epilepsy-and-acquired-epileptic-aphasia
#15
Kai Gao, Anel Tankovic, Yujia Zhang, Hirofumi Kusumoto, Jin Zhang, Wenjuan Chen, Wenshu XiangWei, Gil H Shaulsky, Chun Hu, Stephen F Traynelis, Hongjie Yuan, Yuwu Jiang
OBJECTIVE: N-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD). In this study, we investigated the phenotype and underlying molecular mechanism of a GRIN2A missense mutation identified by next generation sequencing on idiopathic focal epilepsy using in vitro electrophysiology. METHODS: Genomic DNA of patients with epilepsy and ID/DD were sequenced by targeted next-generation sequencing within 300 genes related to epilepsy and ID/DD...
2017: PloS One
https://www.readbyqxmd.com/read/28167968/prevalence-response-to-cysticidal-therapy-and-risk-factors-for-persistent-seizure-in-indian-children-with-neurocysticercosis
#16
Animesh Kumar, Anirban Mandal, Sheela Sinha, Amitabh Singh, Rashmi Ranjan Das
Background. Neurocysticercosis (NCC) is the commonest cause of childhood acquired epilepsy in developing countries. The use of cysticidal therapy in NCC, except "single lesion NCC," is still debated in view of its doubtful usefulness and potential adverse effects. Methods. Children presenting with first episode of seizure or acute focal neurological deficit without fever were screened for NCC and received appropriate therapy (followup done for 1 year to look for the response and side effects). Results. The prevalence of NCC was 4...
2017: International Journal of Pediatrics
https://www.readbyqxmd.com/read/28166369/heterozygous-truncation-mutations-of-the-smc1a-gene-cause-a-severe-early-onset-epilepsy-with-cluster-seizures-in-females-detailed-phenotyping-of-10-new-cases
#17
Joseph D Symonds, Shelagh Joss, Kay A Metcalfe, Suresh Somarathi, Jamie Cruden, Anita M Devlin, Alan Donaldson, Nataliya DiDonato, David Fitzpatrick, Frank J Kaiser, Anne K Lampe, Melissa M Lees, Ailsa McLellan, Tara Montgomery, Vivek Mundada, Lesley Nairn, Ajoy Sarkar, Jens Schallner, Jelena Pozojevic, Ilaria Parenti, Jeen Tan, Peter Turnpenny, William P Whitehouse, Sameer M Zuberi
OBJECTIVE: The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to females, and males with mosaicism. The SMC1A gene, which encodes a structural component of the cohesin complex is also located on the X chromosome. Missense variants and small in-frame deletions of SMC1A cause approximately 5% of Cornelia de Lange Syndrome (CdLS)...
February 6, 2017: Epilepsia
https://www.readbyqxmd.com/read/28165634/pharmacogenetics-of-antiepileptic-drug-efficacy-in-childhood-absence-epilepsy
#18
Tracy A Glauser, Katherine Holland, Valerie P O'Brien, Mehdi Keddache, Lisa J Martin, Peggy O Clark, Avital Cnaan, Dennis Dlugos, Deborah G Hirtz, Shlomo Shinnar, Gregory Grabowski
OBJECTIVE: Determine if common polymorphisms in CACNA1G, CACNA1H, CACNA1I, and ABCB1 are associated with differential short term seizure outcome in Childhood Absence Epilepsy (CAE). METHODS: 446 CAE children in a randomized double blind trial of ethosuximide, lamotrigine and valproate had short term seizure outcome determined. Associations between polymorphisms (minor allele frequency ≥15%) in four genes and seizure outcomes were assessed. In vitro electrophysiology on transfected CACNA1H channels determined impact of one variant on T-type calcium channel responsiveness to ethosuximide...
February 6, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28163531/alternating-hemiplegia-of-childhood-in-a-child-misdiagnosed-as-intractable-epilepsy
#19
Faruk Incecık, Ozlem M Herguner
No abstract text is available yet for this article.
December 2016: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28162058/prevalence-of-epilepsy-in-74-949-school-children-in-khartoum-state-sudan
#20
Inaam N Mohamed, Maha A Elseed, Ahlam A Hamed, Manar E Abdel-Rahman, Sarah M El-Sadig, Ilham M Omer, Abdelgadir H Osman, Ammar E Ahmed, Zein A Karrar, Mustafa A Salih
BACKGROUND: Data on childhood epilepsy in Sudan are scarce and the only published study on its prevalence was published in 1983. This study aimed to determine the current prevalence of epilepsy in school children in Khartoum State. METHODS: This is an analytical population-based, cross-sectional study conducted in Khartoum State, Sudan. The study included students in the basic (primary) schools aged 6-14 years. Simple random sampling was used to draw a cluster of four of the seven localities comprising Khartoum State...
February 6, 2017: Paediatrics and International Child Health
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