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https://www.readbyqxmd.com/read/28441825/-progressive-cavitating-leukoencephalopathy-four-cases-and-literatures-review
#1
C H Ren, F Fang, H Cheng, C H Ding, C H Chen, Y J Zhang, D M Shen
Objective: To analyze the clinical and genetic features of progressive cavitating leukoencephalopathy (PCL). Method: The data of clinical and genetic features of 4 PCL patients diagnosed by Beijing Children's Hospital between January 2015 and January 2016 were analyzed. The cases with complete clinical data retrieved on literature search at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to August 2016) by using search terms of"NDUFV1" ,"NDUFS1" , or"leukoencephalopathy" , were summarized...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441750/adenosine-a1-and-a2a-receptors-in-the-brain-current-research-and-their-role-in-neurodegeneration
#2
REVIEW
Jocelyn Stockwell, Elisabet Jakova, Francisco S Cayabyab
The inhibitory adenosine A1 receptor (A1R) and excitatory A2A receptor (A2AR) are predominantly expressed in the brain. Whereas the A2AR has been implicated in normal aging and enhancing neurotoxicity in multiple neurodegenerative diseases, the inhibitory A1R has traditionally been ascribed to have a neuroprotective function in various brain insults. This review provides a summary of the emerging role of prolonged A1R signaling and its potential cross-talk with A2AR in the cellular basis for increased neurotoxicity in neurodegenerative disorders...
April 23, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28441637/subtle-pathological-changes-in-neocortical-temporal-lobe-epilepsy
#3
Juan G Ochoa, Diana Hentgarden, Audrey Paulzak, Melissa Ogden, Richard Pryson, Markus Lamle, Walter G Rusyniak
This was a prospective observational study to correlate the clinical symptoms, electrophysiology, imaging, and surgical pathology of patients with temporal lobe epilepsy (TLE) without hippocampal sclerosis. We selected consecutive patients with TLE and normal MRI undergoing temporal lobe resection between April and September 2015. Clinical features, imaging, and functional data were reviewed. Intracranial monitoring and language mapping were performed when it was required according to our team recommendation...
April 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28441636/psychological-features-and-quality-of-life-in-50-adult-patients-with-epilepsy-and-their-caregivers-from-the-lecco-epilepsy-center-italy
#4
Alessandra Petruzzi, Andrea Rigamonti, Claudia Yvonne Finocchiaro, Paolo Borelli, Elena Lamperti, Antonio Silvani, Rossana Regazzoni, Lorenzo Stanzani, Andrea Salmaggi
Epilepsy is one of the most common neurological disorders. To the best of our knowledge, in Italy, the relationship between patients' and caregivers' psychological state has rarely been analyzed. Thus, we sought to evaluate both the psychological state of patients with epilepsy and that of their caregivers and the interrelationship between them. We also assessed the existing relation between psychological features and some clinical and demographic information, such as number of antiepileptic drugs (AEDs), epilepsy duration and education level of patients and their caregivers...
April 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28441631/up-regulated-baff-and-baff-receptor-expression-in-patients-with-intractable-temporal-lobe-epilepsy-and-a-pilocarpine-induced-epilepsy-rat-model
#5
Limin Ma, Ruohan Li, Hao Huang, Jinxian Yuan, Shu Ou, Tao Xu, Xinyuan Yu, Xi Liu, Yangmei Chen
PURPOSE: Some studies have suggested that BAFF and BAFFR are highly expressed in the central nervous system (CNS) and participate in inflammatory and immune associated diseases. However, whether BAFF and BAFFR are involved in the pathogenesis of epilepsy remains unknown. This study aimed to investigate the expression of BAFF and BAFFR proteins in the brains of patients with temporal lobe epilepsy (TLE) and in a pilocarpine-induced rat model of TLE to identify possible roles of the BAFF-BAFFR signaling pathway in epileptogenesis...
April 8, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28441341/a-long-term-treatment-with-arachidonyl-2-chloroethylamide-combined-with-valproate-increases-neurogenesis-in-a-mouse-pilocarpine-model-of-epilepsy
#6
Marta Andres-Mach, Mirosław Zagaja, Agnieszka Haratym-Maj, Radosław Rola, Maciej Maj, Joanna Haratym, Monika Dudra-Jastrzębska, Jarogniew J Łuszczki
Rational polytherapy in the treatment of refractory epilepsy has been the main therapeutic modality for several years. In treatment with two or more antiepileptic drugs (AEDs), it is of particular importance that AEDs be selected based on their high anticonvulsant properties, minimal side effects, and impact on the formation of new neurons. The aim of the study was to conduct an in vivo evaluation of the relationship between treatments with synthetic cannabinoid arachidonyl-2'-chloroethylamide (ACEA) alone or in combination with valproic acid (VPA) and hippocampal neurogenesis in a mouse pilocarpine model of epilepsy...
April 25, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28440954/heart-rate-variability-indices-as-predictors-of-the-response-to-vagus-nerve-stimulation-in-patients-with-drug-resistant-epilepsy
#7
Hongyun Liu, Zhao Yang, Lei Huang, Wei Qu, Hongwei Hao, Luming Li
OBJECTIVE: To assess heart-rate variability (HRV) measures of interictal electrocardiography (ECG) for drug-resistant epilepsy and to relate the findings to the outcome of vagus nerve stimulation (VNS) treatment. METHODS: Time-domain, frequency-domain, and nonlinear analyses were used to analyze preoperative HRV measures in 32 patients with drug-resistant epilepsy who had received VNS implants at the same hospital and 32 healthy age- and sex-matched control subjects...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28440900/phosphoglycerate-dehydrogenase-phgdh-deficiency-without-epilepsy-mimicking-primary-microcephaly
#8
Antoine Poli, Yoann Vial, Damien Haye, Sandrine Passemard, Manuel Schiff, Hala Nasser, Catherine Delanoe, Emma Cuadro, Rémi Kom, Narcisse Elanga, Anne Favre, Séverine Drunat, Alain Verloes
Phosphoglycerate dehydrogenase (PHGDH) deficiency (OMIM 256520) is a rare autosomal recessive disorder of serine synthesis, with mostly severe congenital microcephaly, caused by mutations in the PHGDH gene. Fourteen patients reported to date show severe, early onset, drug resistant epilepsy. In a cohort of patients referred for primary microcephaly, compound heterozygosity for two unreported variants in PHGDG was identified by exome sequencing in a pair of sibs who died aged 4.5 months and 4.5 years. They had severe neurological involvement with congenital microcephaly, disorganized EEG, and progressive spasticity, but never had seizures...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#9
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28439889/prevalence-and-characteristics-of-autism-spectrum-disorders-in-children-with-cerebral-palsy
#10
Malika Delobel-Ayoub, Dana Klapouszczak, Marit Maria Elisabeth van Bakel, Karen Horridge, Solveig Sigurdardottir, Kate Himmelmann, Catherine Arnaud
AIM: To evaluate the prevalence of co-occurring autism spectrum disorders (ASDs) among children with cerebral palsy (CP), and to describe their characteristics. METHOD: The data of 1225 CP cases from four population-based registers (Iceland, Sweden, and two in France) and one population-based surveillance programme (North East England, UK) participating in the Surveillance of Cerebral Palsy in Europe Network (SCPE) were analysed. The ASD diagnoses were systematically recorded using category F84 of the International Classification of Diseases, 10th Revision...
April 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28439226/the-phosphodiesterase-10a-inhibitor-pf-2545920-enhances-hippocampal-excitability-and-seizure-activity-involving-the-upregulation-of-glua1-and-nr2a-in-post-synaptic-densities
#11
Yanke Zhang, Baobing Gao, Fangshuo Zheng, Shanshan Lu, Yun Li, Yan Xiong, Qin Yang, Yong Yang, Pengfei Fu, Fei Xiao, Xuefeng Wang
Phosphodiesterase regulates the homeostasis of cAMP and cGMP, which increase the strength of excitatory neural circuits and/or decrease inhibitory synaptic plasticity. Abnormally, synchronized synaptic transmission in the brain leads to seizures. A phosphodiesterase 10A (PDE10A) inhibitor PF-2545920 has recently attracted attention as a potential therapy for neurological and psychiatric disorders. We hypothesized that PF-2545920 plays an important role in status epilepticus (SE) and investigated the underlying mechanisms...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28438841/practice-guideline-summary-sudden-unexpected-death-in-epilepsy-incidence-rates-and-risk-factors-report-of-the-guideline-development-dissemination-and-implementation-subcommittee-of-the-american-academy-of-neurology-and-the-american-epilepsy-society
#12
Cynthia Harden, Torbjörn Tomson, David Gloss, Jeffrey Buchhalter, J Helen Cross, Elizabeth Donner, Jacqueline A French, Anthony Gil-Nagel, Dale C Hesdorffer, W Henry Smithson, Mark C Spitz, Thaddeus S Walczak, Josemir W Sander, Philippe Ryvlin
OBJECTIVE: To determine the incidence rates of sudden unexpected death in epilepsy (SUDEP) in different epilepsy populations and address the question of whether risk factors for SUDEP have been identified. METHODS: Systematic review of evidence; modified Grading Recommendations Assessment, Development, and Evaluation process for developing conclusions; recommendations developed by consensus. RESULTS: Findings for incidence rates based on 12 Class I studies include the following: SUDEP risk in children with epilepsy (aged 0-17 years) is 0...
April 25, 2017: Neurology
https://www.readbyqxmd.com/read/28438505/turning-down-the-volume-astrocyte-volume-change-in-the-generation-and-termination-of-epileptic-seizures
#13
REVIEW
Thomas R Murphy, Devin K Binder, Todd A Fiacco
Approximately 1% of the global population suffers from epilepsy, a class of disorders characterized by recurrent and unpredictable seizures. Of these cases roughly one-third are refractory to current antiepileptic drugs, which typically target neuronal excitability directly. The events leading to seizure generation and epileptogenesis remain largely unknown, hindering development of new treatments. Some recent experimental models of epilepsy have provided compelling evidence that glial cells, especially astrocytes, could be central to seizure development...
April 21, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28438504/agomelatine-protects-against-neuronal-damage-without-preventing-epileptogenesis-in-the-kainate-model-of-temporal-lobe-epilepsy
#14
Jana Tchekalarova, Dimitrinka Atanasova, Zlatina Nenchovska, Milena Atanasova, Lidia Kortenska, Rumyana Gesheva, Nikolai Lazarov
Recent studies about the novel antidepressant agomelatine, which is a mixed MT1 and MT2 melatonin receptor agonist and 5HT2C serotonin receptor antagonist possessing an anticonvulsant and neuroprotective action, suggest that it may have potential to contribute against epileptogenesis and epilepsy-induced memory impairment. In order to ascertain whether protection of some brain structures could suppress epileptogenesis, in the present study, we evaluated the effect of chronic post-status treatment with agomelatine on epileptogenesis, behavioral and neuronal damage induced by kainate acid (KA) status epilepticus (SE)...
April 21, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28438223/extrastriatal-changes-in-patients-with-late-onset-glutaric-aciduria-type-i-highlight-the-risk-of-long-term-neurotoxicity
#15
Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting
BACKGROUND: Without neonatal initiation of treatment, 80-90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder. Onset of motor symptoms may be acute following encephalopathic crisis or insidious without apparent crisis. Additionally, so-called late-onset GA1 has been described in single patients diagnosed after the age of 6 years. With the aim of better characterizing and understanding late-onset GA1 we analyzed clinical findings, biochemical phenotype, and MRI changes of eight late-onset patients and compared these to eight control patients over the age of 6 years with early diagnosis and start of treatment...
April 24, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28437751/effects-of-picrotoxin-on-zebrafish-larvae-behaviors-a-comparison-study-with-ptz
#16
Xue Yang, Jia Lin, Xiaolan Peng, Qin Zhang, Yinglan Zhang, Ning Guo, Shuizhen Zhou, Qiang Li
Larval zebrafish (Danio rerio) have been suggested as a high-throughput experimental animal model for epilepsy-related genetic and developmental studies. The behavioral manifestations in response to the seizure-inducing drugs picrotoxin (PTX) (1, 5, 25, 125, or 625μM) or pentylenetetrazole (PTZ) (1, 2, 4, 8, or 16mM) under light-dark conditions were studied using zebrafish larvae at 5days post-fertilization (dpf). Two behavioral parameters, locomotor activity and thigmotaxis behavior, were analyzed. We conclude that high concentrations of PTX treatment increased locomotion and thigmotaxis in 5 dpf zebrafish larvae under continuous illumination and the locomotion of PTX-treated zebrafish was decreased under the dark condition...
April 21, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28437750/becoming-comfortable-with-my-epilepsy-strategies-that-patients-use-in-the-journey-from-diagnosis-to-acceptance-and-disclosure
#17
Sinead Pembroke, Agnes Higgins, Niall Pender, Naomi Elliott
OBJECTIVE: Proponents of resilience theory have highlighted the importance of understanding the processes of resilience. The objective of the study was to explore how people with epilepsy reach a stage of being comfortable with their epilepsy. Identifying the processes used is important to developing effective self-management for people who are newly diagnosed with epilepsy. METHOD: A grounded theory approach involving forty-nine consenting adult people with epilepsy (18 years and over), was used to explore their first-hand experiences of coming to terms with their epilepsy...
April 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28437749/epilepsy-awareness-and-emergency-rescue-training-ignorance-is-bliss
#18
Rohit Shankar, Caryn Jory, Brendan McLean, Phil Tittensor, Matthew Walker
Status epilepticus (SE) has a high mortality rate and is associated with complications such as neurological deficit and cognitive decline. Buccal midazolam is the recommended emergency rescue medication in the UK to reduce the duration of a seizure and SE. It should be administered by an appropriately trained person. There are agreed guidelines on training standards for its administration in the UK produced by the Joint Epilepsy Council of the United Kingdom and Ireland. Training should provide an overview of epilepsy to facilitate safe, person-centered care and appropriate administration of rescue medication to people with epilepsy (PWE)...
April 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28437682/sleep-problems-in-pediatric-epilepsy-and-adhd-the-impact-of-comorbidity
#19
Ozalp Ekinci, Çetin Okuyaz, Serkan Gunes, Nuran Ekinci, Merve Kalınlı, Muhammet Emin Tan, Halenur Teke, Meltem Çobanoğulları Direk, Semra Erdoğan
AIMS: Attention-deficit hyperactivity disorder (ADHD) is a frequent comorbidity in pediatric epilepsy. Although sleep problems are commonly reported in both children with primary ADHD and epilepsy, those with epilepsy-ADHD comorbidity have not been well studied. This study aimed to compare sleep problems among three groups of children: 1) children with epilepsy, 2) children with epilepsy and ADHD (epilepsy-ADHD), and 3) children with primary ADHD. METHODS: 53 children with epilepsy, 35 children with epilepsy-ADHD, and 52 children with primary ADHD completed the Children's Sleep Habits Questionnaire (CSHQ)...
April 21, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28437681/predicting-wellbeing-among-people-with-epilepsy-using-illness-cognitions
#20
Kirstie A Salter, Kirsty N Prior, Malcolm J Bond
OBJECTIVE: This study sought to examine the synergistic contribution of illness-related perceptions (stigma, severity, and threat) and illness behavior to wellbeing among people with epilepsy. Poorer wellbeing was expected among those who perceived greater stigma, illness severity, and threat and had more extreme illness behavior. METHODS: Individuals with a diagnosis of epilepsy (N=210), recruited through local and online support groups, completed a questionnaire comprising demographic and epilepsy-specific information, and validated measures of illness perceptions and behavior, epilepsy-related quality of life, and general psychological health...
April 21, 2017: Epilepsy & Behavior: E&B
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