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https://www.readbyqxmd.com/read/28535638/-application-of-long-term-video-electroencephalogram-and-resting-state-functional-magnetic-resonance-imaging-in-detection-of-cognition-in-patients-with-benign-epilepsy-of-childhood-with-centrotemporal-spikes
#1
X X Yan, Q Yu, Y T Gao, L T Li, D H Yu, Y Chen, X J Yao, W D Yang, Z J Chen, J Z Yin, Y An, K Tan
Objective: To study the relationship between the changes of brain network and cognition in patients with benign epilepsy of childhood with centrotemporal spikes (BECTS) by using long term video electroencephalogram (VEEG) and resting-state functional magnetic resonance imaging (RS-fMRI) technology. Methods: Eleven patients with right-handed were recruited (from April 2015 to September 2016) from epilepsy specialist outpatients and functional department of neurosurgery of Tianjin Medical University General Hospital...
May 23, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28533141/common-and-distinctive-patterns-of-cognitive-dysfunction-in-children-with-benign-epilepsy-syndromes
#2
Dazhi Cheng, Xiuxian Yan, Zhijie Gao, Keming Xu, Xinlin Zhou, Qian Chen
BACKGROUND: Childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes are the most common forms of benign epilepsy syndromes. Although cognitive dysfunctions occur in children with both childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes, the similarity between their patterns of underlying cognitive impairments is not well understood. To describe these patterns, we examined multiple cognitive functions in children with childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes...
January 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28518218/comparison-and-optimization-of-in-silico-algorithms-for-predicting-the-pathogenicity-of-sodium-channel-variants-in-epilepsy
#3
Katherine D Holland, Thomas M Bouley, Paul S Horn
OBJECTIVE: Variants in neuronal voltage-gated sodium channel α-subunits genes SCN1A, SCN2A, and SCN8A are common in early onset epileptic encephalopathies and other autosomal dominant childhood epilepsy syndromes. However, in clinical practice, missense variants are often classified as variants of uncertain significance when missense variants are identified but heritability cannot be determined. Genetic testing reports often include results of computational tests to estimate pathogenicity and the frequency of that variant in population-based databases...
May 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28506485/surgery-for-dysembryoplastic-neuroepithelial-tumors-and-gangliogliomas-in-eloquent-areas-functional-results-and-seizure-control
#4
B Devaux, F Chassoux, E Landré, B Turak, A Laurent, M Zanello, C Mellerio, P Varlet
INTRODUCTION: Dysembryoplastic neuroepithelial tumors and gangliogliomas are developmental glioneuronal tumors usually revealed by partial epilepsy. High epileptogenicity, childhood epilepsy onset, drug-resistance, temporal location, and seizure freedom after complete resection are common characteristics of both tumors. We report the specificity of surgical management, functional results and seizure outcome in cases of a tumor location in eloquent areas. METHODS: Among 150 patients (88 males, 3-55 years) operated on for refractory epilepsy due to a glioneuronal tumor (1990-2015), 30 (20%, dysembryoplastic neuroepithelial tumors=21; gangliogliomas=9) had a tumor located in an eloquent cortex (sensory-motor, insular or language areas)...
May 12, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28503627/two-novel-kcnq2-mutations-in-2-families-with-benign-familial-neonatal-convulsions
#5
Ghalia Al Yazidi, Michael I Shevell, Myriam Srour
Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals have inherited causal mutations in KCNQ2, which encodes for the potassium voltage-gated channel subfamily Q, member 2. Mutations in KCNQ2 are also associated with a severe neonatal encephalopathy phenotype associated with poor seizure control and neurodevelopmental deficits...
January 2017: Child Neurol Open
https://www.readbyqxmd.com/read/28503077/an-unusual-association-of-headache-epilepsy-and-late-onset-kleist-s-pseudodepression-syndrome-in-frontal-lobe-cavernoma-of-the-cerebral-left-hemisphere
#6
Domenico Chirchiglia, Attilio Della Torre, Domenico Murrone, Pasquale Chirchiglia, Rosa Marotta
Cerebral cavernous angioma or cavernoma is a benign vascular malformation, usually asymptomatic. It is infrequent and often its discovery is incidental, a so-called incidentaloma. However, these lesions can be symptomatic, causing headaches, epilepsy, cerebral hemorrhage and other neurological signs depending on the brain area involved. Frontal localization is responsible for psychiatric disorders, particularly the prefrontal region, leading to prefrontal syndrome, a condition common in all frontal lobe tumors...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28490155/endoscopic-treatment-of-hypothalamic-hamartomas
#7
REVIEW
Kyu Won Shim, Eun Kyung Park, Dong-Seok Kim
Hypothalamic hamartoma (HH) is a benign indolent lesion despite the presentation of refractory epilepsy. Behavioral disturbances and endocrine problems are additional critical symptoms that arise along with HHs. Due to its nature of generating epileptiform discharge and spreading to cortical region, various management strategies have been proposed and combined. Surgical approaches with open craniotomy or endoscopy, stereotactic approaches with radiosurgery and gamma knife surgery or radiofrequency thermos-coagulation, and laser ablation have been introduced...
May 2017: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/28489313/in-utero-seizures-revealing-dentato-olivary-dysplasia-caused-by-scn2a-mutation
#8
Fanny Sauvestre, Sébastien Moutton, Catherine Badens, Bernard Broussin, Dominique Carles, Nada Houcinat, Caroline Lacoste, Florent Marguet, Christophe Pecheux, Laurent Villard, Fanny Pelluard, Annie Laquerrière, Gwenaëlle André
Most early-onset epileptic encephalopathies (EOEE) are caused by genetic defects. In the past, mutations, especially in genes encoding sodium channels, have been identified using linkage studies, array-CGH and more recently next-generation sequencing (NGS) [1]. Mutations in SCN2A gene have been identified in a wide variety of early-onset epileptic syndromes including benign familial neonatal infantile seizures (BFNIS) [2] and more severe forms leading to encephalopathy such as Ohtahara or West syndromes [3], epilepsy of infancy with migrating focal seizures (EIMFS) [4] and autism spectrum disorders [5]...
May 10, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28463933/brief-potentially-ictal-rhythmic-discharges-b-i-rds-in-noncritically-ill-adults
#9
Ji Yeoun Yoo, Lara V Marcuse, Madeline C Fields, Jillian L Rosengard, Maria Vittoria Traversa, Nicolas Gaspard, Lawrence J Hirsch
INTRODUCTION: Brief potentially ictal rhythmic discharges (B(I)RDs) have been described in neonates and critically ill adults, and their association with seizures has been demonstrated. Their significance in noncritically ill adults remains unclear. We aimed to investigate their prevalence, electrographic characteristics, and clinical significance. METHODS: We identified adult patients with B(I)RDs who received long-term EEG recordings either in the epilepsy monitoring unit or in the ambulatory setting...
May 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28421657/core-outcome-sets-in-women-s-and-newborn-health-a-systematic-review
#10
James M N Duffy, Rachel Rolph, Chris Gale, Martin Hirsch, Khalid S Khan, Sue Ziebland, Richard J McManus
BACKGROUND: Variation in outcome collection and reporting is a serious hindrance to progress in our specialty, over eighty journals have come together to support the development, dissemination, and implementation of core outcome sets. OBJECTIVE: This study systematically reviewed and characterised registered, progressing, or completed core outcome sets relevant to women's and newborn health. SEARCH STRATEGY: Systematic search using the Core Outcome Measures in Effectiveness Trial initiative and the Core Outcomes in Women's and Newborn Health initiative databases...
April 19, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28406584/thick-corpus-callosum-in-children
#11
Aviv Schupper, Osnat Konen, Ayelet Halevy, Rony Cohen, Sharon Aharoni, Avinoam Shuper
BACKGROUND AND PURPOSE: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different. METHODS: The corpus callosum (CC) was defined as thick based on observations and impressions. We reviewed cases of children who were diagnosed as TCC based on brain magnetic resonance imaging (MRI) studies. The pertinent clinical data of these children were collected, and their CCs were measured...
April 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28403704/nursing-management-of-reflex-anoxic-seizures-in-children
#12
Neal Patel, Rowan Kerr-Liddell, Louise Challis, Siba Prosad Paul
Children who present with transient loss of consciousness (T-LOC) are often first seen in emergency departments (EDs). Reflex anoxic seizure (RAS), vasovagal syncope and prolonged respiratory apnoea are benign, syncopal events that can be generally managed by explanation and reassurance. RAS is a short, paroxysmal, self-reverting episode of asystole that is triggered by pain, fear or anxiety and is caused by increased vagal response. It is an important differential diagnosis in pre-school age children who present with T-LOC, but is often underdiagnosed and can sometimes be misdiagnosed as epilepsy...
April 13, 2017: Emergency Nurse: the Journal of the RCN Accident and Emergency Nursing Association
https://www.readbyqxmd.com/read/28391031/evaluation-of-the-language-profile-in-children-with-rolandic-epilepsy-and-developmental-dysphasia-evidence-for-distinct-strengths-and-weaknesses
#13
M Verly, R Gerrits, L Lagae, S Sunaert, N Rommel, I Zink
Although benign, rolandic epilepsy (RE) or benign childhood epilepsy with centro-temporal spikes is often associated with language impairment. Recently, fronto-rolandic EEG abnormalities have been described in children with developmental dysphasia (DD), suggesting an interaction between language impairment and interictal epileptiform discharges. To investigate if a behavioral-linguistic continuum between RE and DD exists, a clinical prospective study was carried out to evaluate the language profile of 15 children with RE and 22 children with DD...
April 6, 2017: Brain and Language
https://www.readbyqxmd.com/read/28386314/recent-advances-and-challenges-of-mtor-inhibitors-use-in-the-treatment-of-patients-with-tuberous-sclerosis-complex
#14
REVIEW
Filipe Palavra, Conceição Robalo, Flávio Reis
Tuberous sclerosis complex (TSC) is a genetic condition characterized by the presence of benign, noninvasive, and tumor-like lesions called hamartomas that can affect multiple organ systems and are responsible for the clinical features of the disease. In the majority of cases, TSC results from mutations in the TSC1 and TSC2 genes, leading to the overactivation of the mammalian target of rapamycin (mTOR) signalling pathway, which controls several cell functions, including cell growth, proliferation, and survival...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28384699/sudden-unexpected-death-in-epilepsy-among-patients-with-benign-childhood-epilepsy-with-centrotemporal-spikes
#15
Kyra Doumlele, Daniel Friedman, Jeffrey Buchhalter, Elizabeth J Donner, Jay Louik, Orrin Devinsky
Importance: Children with benign epilepsy with centrotemporal spikes (BECTS) have traditionally been considered to have a uniformly good prognosis. However, benign may be a misnomer because BECTS is linked to cognitive deficits, a more severe phenotype with intractable seizures, and the potential for sudden unexpected death in epilepsy (SUDEP). Objective: To determine if cases of BECTS are present in the North American SUDEP Registry (NASR). Design, Setting, and Participants: The NASR is a clinical and biospecimen repository established in 2011 to promote SUDEP research...
April 3, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28359223/epileptic-discharge-related-functional-connectivity-within-and-between-networks-in-benign-epilepsy-with-centrotemporal-spikes
#16
Rong Li, Gong-Jun Ji, Yangyang Yu, Yang Yu, Mei-Ping Ding, Ye-Lei Tang, Huafu Chen, Wei Liao
Benign epilepsy with centrotemporal spikes (BECTS) is a common childhood epilepsy syndrome associated with abnormalities in neurocognitive domains, particularly during interictal epileptiform discharges (IEDs). Here, we investigated the effects of IEDs on brain's intrinsic connectivity networks in 43 BECTS patients and 28 matched healthy controls (HCs). Patients were further divided into IED and non-IED subgroups based on simultaneous EEG-fMRI recordings. Functional connectivity within and between five networks, corresponding to seizure origination and cognitive processes, were analyzed to measure IED effects...
January 10, 2017: International Journal of Neural Systems
https://www.readbyqxmd.com/read/28351718/progress-in-unraveling-the-genetic-etiology-of-rolandic-epilepsy
#17
REVIEW
Weixi Xiong, Dong Zhou
Rolandic epilepsy (RE), or benign epilepsy of childhood with centrotemporal spikes (BECT), is the most frequent idiopathic partial epilepsy syndrome of childhood, where the "idiopathic" implies a genetic predisposition. Although RE has long been presumed to have a genetic component, clinical and genetic studies have shown a complex inheritance pattern. Furthermore, the underlying major genetic influence in RE has been challenged by recent reports of twin studies. Meanwhile, many genes or loci have been shown to be associated the RE/atypical RE (ARE) spectrum, with a higher frequency of causative variants in ARE...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28276062/ilae-classification-of-the-epilepsies-position-paper-of-the-ilae-commission-for-classification-and-terminology
#18
Ingrid E Scheffer, Samuel Berkovic, Giuseppe Capovilla, Mary B Connolly, Jacqueline French, Laura Guilhoto, Edouard Hirsch, Satish Jain, Gary W Mathern, Solomon L Moshé, Douglas R Nordli, Emilio Perucca, Torbjörn Tomson, Samuel Wiebe, Yue-Hua Zhang, Sameer M Zuberi
The International League Against Epilepsy (ILAE) Classification of the Epilepsies has been updated to reflect our gain in understanding of the epilepsies and their underlying mechanisms following the major scientific advances that have taken place since the last ratified classification in 1989. As a critical tool for the practicing clinician, epilepsy classification must be relevant and dynamic to changes in thinking, yet robust and translatable to all areas of the globe. Its primary purpose is for diagnosis of patients, but it is also critical for epilepsy research, development of antiepileptic therapies, and communication around the world...
April 2017: Epilepsia
https://www.readbyqxmd.com/read/28262406/a-novel-inherited-scn1a-mutation-associated-with-gefs-in-benign-and-encephalopathic-epilepsy
#19
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
#20
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
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