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Epilepsy in childhood

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https://www.readbyqxmd.com/read/28346892/characterizing-regression-in-phelan-mcdermid-syndrome-22q13-deletion-syndrome
#1
Gillian Reierson, Jon Bernstein, Wendy Froehlich-Santino, Alexander Urban, Carolin Purmann, Sean Berquist, Josh Jordan, Ruth O'Hara, Joachim Hallmayer
PURPOSE: To describe the frequency and characteristics of developmental regression in a sample of 50 patients with Phelan McDermid Syndrome (PMS) and investigate the possibility of association between regression, epilepsy, and electroencephalogram (EEG) abnormalities and deletion size. METHODS: The Autism Diagnostic Interview-Revised (ADI-R) was used to evaluate regression in patients with a confirmed diagnosis of PMS. Information on seizure history and EEGs was obtained from medical record review...
March 16, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28346588/association-between-childhood-onset-epilepsy-and-amyloid-burden-5-decades-later
#2
Juho Joutsa, Juha O Rinne, Bruce Hermann, Mira Karrasch, Anu Anttinen, Shlomo Shinnar, Matti Sillanpää
Importance: The effect of childhood epilepsy on later-life cognitive and brain health is an unclear and little-explored issue. Objective: To determine whether adults with a history of childhood-onset epilepsy exhibit increased brain amyloid accumulation, possibly predisposing to accelerated cognitive impairment or even frank cognitive disorders in later life. Design, Setting, and Participants: Forty-one adults from a population-based cohort of individuals with childhood-onset epilepsy in southwestern Finland, together with 46 matched population-based controls, underwent amyloid ligand carbon 11-labeled Pittsburgh Compound B (PiB) positron emission tomography after long-term prospective follow-up...
March 27, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28343465/academic-outcomes-in-individuals-with-childhood-onset-epilepsy-mediating-effects-of-working-memory
#3
Ashley N Danguecan, Mary Lou Smith
OBJECTIVES: Academic difficulties are common in children with epilepsy, although little is known about the effect of various seizure-related and cognitive variables. Given that persistent seizures may negatively impact academics, and that working memory is predictive of academic abilities, we examined the effects of recent seizures and working memory on word reading, spelling, and arithmetic in pediatric epilepsy. We hypothesized that persistent seizures would be associated with lower working memory ability, which would in turn result in poorer academic performance...
March 27, 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#4
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a result, we found two deleterious de novo mutations in DYNC1H1 and RTP1 in two trios. Expression profile analysis showed that DYNC1H1 and RTP1 are expressed in almost all brain regions and developmental stages...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28325825/very-long-term-sequelae-of-craniopharyngioma
#5
Mark Wijnen, Marry M van den Heuvel-Eibrink, Joseph A M J L Janssen, Coriene E Catsman-Berrevoets, Erna M C Michiels, Marie-Lise C van Veelen-Vincent, Alof H G Dallenga, Jan H van den Berge, Carolien M van Rij, A J Van der Lely, Sebastian J C M M Neggers
OBJECTIVE: Studies investigating long-term health conditions in patients with craniopharyngioma are limited by short follow-up durations and do generally not compare long-term health effects according to initial craniopharyngioma treatment approach. In addition, studies comparing long-term health conditions between patients with childhood- and adult-onset craniopharyngioma report conflicting results. The objective of this study was to analyse a full spectrum of long-term health effects in patients with craniopharyngioma according to initial treatment approach and age group at craniopharyngioma presentation...
March 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28325560/long-term-prognosis-of-childhood-absence-epilepsy
#6
C Martínez-Ferrández, E Martínez-Salcedo, C Casas-Fernández, H Alarcón-Martínez, S Ibáñez-Micó, R Domingo-Jiménez
INTRODUCTION: Childhood absence epilepsy (CAE) is considered easily manageable with medication provided that a strict patient classification system is employed. It accounts for 10% of all childhood epilepsy cases starting before the age of 15 and it is most frequent in school-aged girls. The aim of this study is to analyse long-term outcomes of patients diagnosed with CAE according to the Loiseau and Panayiotopoulos criteria and treated during childhood. METHODS: We conducted a retrospective study including 69 patients with CAE who are currently older than 11; data were gathered from medical histories, EEG records, and telephone questionnaires...
March 18, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28324682/gene-expression-analysis-in-untreated-absence-epilepsy-demonstrates-an-inconsistent-pattern
#7
Markus von Deimling, Robert Häsler, Verena Steinbach, Paul-Martin Holterhus, Sarah von Spiczak, Ulrich Stephani, Ingo Helbig, Hiltrud Muhle
OBJECTIVE: Childhood and Juvenile Absence Epilepsy account for 30% of all genetic generalized epilepsies with a strong genetic contribution. At the current state the genetic background remains to be resolved. The aim of this study was to identify disease associated transcripts pinpointing potential underlying disease mechanisms in patients with CAE and JAE. METHODS: We performed gene expression analysis from peripheral blood mononuclear cells (PBMCs) in 30 patients with newly-diagnosed absence epilepsy prior to initiating treatment and 30 healthy age - and gender-matched pediatric controls...
February 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28316069/employment-status-and-occupational-level-of-adult-survivors-of-childhood-cancer-in-great-britain-the-british-childhood-cancer-survivor-study
#8
Clare Frobisher, Emma R Lancashire, Helen Jenkinson, David L Winter, Julie Kelly, Raoul C Reulen, Michael M Hawkins
The British Childhood Cancer Survivor Study (BCCSS) provides the first detailed investigation of employment and occupation to be undertaken in a large population-based cohort. Previous studies have been limited by design issues such as using small numbers of survivors with specific diagnoses, and involved limited assessment of employment status and occupational level. The BCCSS includes 17,981 5-year survivors of childhood cancer. Employment status and occupational level were ascertained by questionnaire from eligible survivors (n = 14,836)...
March 18, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28296376/-lafora-disease-presentation-two-cases-in-a-mexican-family
#9
María Guadalupe González-De la Rosa, Edith Alva-Moncayo
Myoclonic epilepsy, described in 1911 by Lafora and Glueck, is an autosomal recessive hereditary clinical-pathological entity, which begins at the end of childhood or during adolescence, presents atypical absences, generalized and atonic tonic-clonic seizures, which can evolve to the epileptic state. The diagnosis is confirmed trough the skin biopsy or trough determination of the protein laforine. In this paper we present the initial case of a patient in whom we confirm the diagnosis of progressive myoclonic epilepsy and in particular the Lafora disease, which due to the symptomatology and the knowledge of the case we were able to detect her sister's disease...
March 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28293679/research-conference-summary-from-the-2014-international-task-force-on-atp1a3-related-disorders
#10
Hendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, Kevin Ess, Laurie Ozelius, Eva Andermann, Frederick Andermann, Gene Andrasco, Alice Belgrade, Allison Brashear, Sharon Ciccodicola, Lynn Egan, Alfred L George, Aga Lewelt, Joshua Magelby, Mario Merida, Tara Newcomb, Vicky Platt, Dominic Poncelin, Sandra Reyna, Masayuki Sasaki, Marcio Sotero de Menezes, Kathleen Sweadner, Louis Viollet, Mary Zupanc, Kenneth Silver, Kathryn Swoboda
OBJECTIVE: ATP1A3-related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism. METHODS: In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with ATP1A3-related disorders...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28291425/long-term-outcomes-of-epilepsy-surgery-in-85-pediatric-patients-followed-up-for-over-10-years-a-retrospective-survey
#11
Hiroshi Hosoyama, Kazumi Matsuda, Tadahiro Mihara, Naotaka Usui, Koichi Baba, Yushi Inoue, Takayasu Tottori, Toshiaki Otsubo, Yumi Kashida, Koji Iida, Hirofumi Hirano, Ryosuke Hanaya, Kazunori Arita
OBJECTIVE The aim of this study was to investigate the treatment outcomes and social engagement of patients who had undergone pediatric epilepsy surgery more than 10 years earlier. METHODS Between 1983 and 2005, 110 patients younger than 16 years underwent epilepsy surgery at the National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders. The authors sent a questionnaire to 103 patients who had undergone follow-up for more than 10 years after surgery; 85 patients (82.5%) responded. The survey contained 4 categories: seizure outcome, use of antiepileptic drugs, social participation, and general satisfaction with the surgical treatment (resection of the epileptic focus, including 4 hemispherectomies)...
March 3, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28286918/altered-effective-connectivity-network-in-childhood-absence-epilepsy-a-multi-frequency-meg-study
#12
Caiyun Wu, Jing Xiang, Wenwen Jiang, Shuyang Huang, Yuan Gao, Lu Tang, Yuchen Zhou, Di Wu, Qiqi Chen, Zheng Hu, Xiaoshan Wang
Using multi-frequency magnetoencephalography (MEG) data, we investigated whether the effective connectivity (EC) network of patients with childhood absence epilepsy (CAE) is altered during the inter-ictal period in comparison with healthy controls. MEG data from 13 untreated CAE patients and 10 healthy controls were recorded. Correlation analysis and Granger causality analysis were used to construct an EC network at the source level in eight frequency bands. Alterations in the spatial pattern and topology of the network in CAE were investigated by comparing the patients with the controls...
March 12, 2017: Brain Topography
https://www.readbyqxmd.com/read/28284049/significance-of-mdr1-gene-c3435t-polymorphism-in-predicting-childhood-refractory-epilepsy
#13
Rui-Juan Lv, Xiao-Qiu Shao, Tao Cui, Qun Wang
The association between the MDR1 gene C3435T polymorphism and childhood intractable epilepsy remains controversial. In this study, we performed a meta-analysis to clarify this issue. We searched the PubMed, Medline, Embase and CNKI databases for studies published through October 2016 that evaluated the association between the MDR1 C3435T polymorphism and childhood refractory epilepsy. Eleven studies involving 863 cases in the group with drug-resistant epilepsy and 915 cases in the group with drug-responsive epilepsy were included in this systematic review and meta-analysis...
February 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28284045/dosing-considerations-for-rufinamide-in-patients-with-lennox-gastaut-syndrome-phase-iii-trial-results-and-real-world-clinical-data
#14
Sanjeev Kothare, Gerhard Kluger, Rajesh Sachdeo, Betsy Williams, Omar Olhaye, Carlos Perdomo, Francesco Bibbiani
PURPOSE: Lennox-Gastaut syndrome (LGS), a rare, severe form of childhood-onset epilepsy, is difficult to control. Rufinamide is indicated for adjunctive treatment of seizures associated with LGS in adults and pediatric patients aged ≥1 year. In clinical practice, rufinamide dosing and titration may differ from the trial setting. Here, rufinamide clinical trial data are compared with real-world experience to provide insight into optimal dosing and titration strategies. METHODS: Rufinamide Phase III and open-label extension (OLE) studies were reviewed; effect of titration and dose on adverse events (AEs) and concomitant AED use were analyzed...
February 17, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28277552/childhood-epilepsy-prognostic-factors-in-predicting-the-treatment-failure
#15
Mohammad Mehdi Taghdiri, Mahmoud Omidbeigi, Sina Asaadi, Eznollah Azargashb, Mohammad Ghofrani
OBJECTIVE: We aimed to find the prognostic factors to detect the patients who fail the treatment of epilepsy, in the early stages of the disease. MATERIALS &METHODS: This study was done on the epileptic patients attending the Neurology Clinic of Mofid Children's Hospital, Tehran, Iran from September 2013 to October 2014. After defining the criteria for exclusion and inclusion, the patients were divided to two groups based on responding to the medical treatment for their epilepsy and indices were recorded for all the patients to be used in the statistical analyses...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28275159/enduring-memory-impairments-provoked-by-developmental-febrile-seizures-are-mediated-by-functional-and-structural-effects-of-neuronal-restrictive-silencing-factor
#16
Katelin P Patterson, Jeremy M Barry, Megan M Curran, Akanksha Singh-Taylor, Gary Brennan, Neggy Rismanchi, Matias Page, Yoav Noam, Gregory L Holmes, Tallie Z Baram
In a subset of children experiencing prolonged febrile seizures (FS), the most common type of childhood seizures, cognitive outcomes are compromised. However, the underlying mechanisms are unknown. Here we identified significant, enduring spatial memory problems in male rats following experimental prolonged FS (febrile status epilepticus; eFSE). Remarkably, these deficits were abolished by transient, post hoc interference with the chromatin binding of the transcriptional repressor neuron restrictive silencing factor (NRSF or REST)...
March 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28262406/a-novel-inherited-scn1a-mutation-associated-with-gefs-in-benign-and-encephalopathic-epilepsy
#17
Angela C Gauthier, Louis N Manganas, Richard H Mattson
Generalized epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant condition often caused by mutations in SCN1A that usually first manifests as childhood simple febrile seizures but may progress to a variety of afebrile generalized seizure types. Here, we describe the case of an 8-year-old boy with a novel SCN1A mutation who developed febrile seizures at 10months of age which eventually advanced to frequent afebrile tonic-clonic seizures. His condition was unresponsive to several antiepileptic drugs and the ketogenic diet, and he experienced gradual cognitive decline...
March 2, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28258599/less-typical-features-of-benign-rolandic-epilepsy-in-chinese-children-a-retrospective-study
#18
Xiuhe Zhao, Aiqin Wang, Shengjun Wang, Tongxia Zhang, Zhaofu Chi, Yiming Liu
BACKGROUD: Benign rolandic epilepsy is one of the most common focal epilepsy in childhood. However more and more data demonstrated that less typical clinical presentations may lead to misdiagnosis and mistreatment. The focus of this study was to retrospectively investigate the less typical features of benign rolandic epilepsy in Chinese children. METHODS: Data of 316 Chinese children with BRE were collected and analyzed. RESULTS: Of all children, 7...
March 4, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28256379/outcome-of-childhood-onset-epilepsy-from-adolescence-to-adulthood-transition-issues
#19
REVIEW
R Nabbout, D M Andrade, N Bahi-Buisson, H Cross, I Desquerre, O Dulac, T Granata, E Hirsch, V Navarro, L Ouss, P L Pearl, D Schmidt, E Thiele, P R Camfield, C S Camfield
This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders)...
February 27, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28249881/non-epileptic-attack-disorder-the-importance-of-diagnosis-and-treatment
#20
Jon Mark Dickson, Marian Peacock, Richard A Grünewald, Stephanie Howlett, Paul Bissell, Markus Reuber
A 50-year-old woman was taken to hospital by emergency ambulance during her first seizure. She was admitted to hospital, treated with intravenous diazepam, diagnosed with epilepsy and started on antiepileptic drug (AED) therapy. This was ineffective so she was referred to a tertiary centre where she underwent video EEG and was diagnosed with non-epileptic attack disorder. Her experience of the diagnosis was positive; it allowed her to understand what was happening to her and to understand the link between her seizures, adverse childhood experiences and the death of her mother...
March 1, 2017: BMJ Case Reports
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