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Refractory epilepsy

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https://www.readbyqxmd.com/read/28540848/myoclonic-jerks-are-commonly-associated-with-absence-seizures-in-early-onset-absence-epilepsy
#1
Hala Nasser, Elisa Lopez-Hernandez, Adina Ilea, Neli Le Morvan, Vanina Bellavoine, Catherine Delanoë, Stéphane Auvin
Typical absence seizures are observed in various epilepsy syndromes, however, few series have focused on early-onset absence epilepsy (EOAE). We aimed to evaluate the occurrence of this seizure type in children under 4 years of age in order to evaluate their electroclinical characteristics and outcome. We retrospectively studied (2006-2014) the electroclinical features of children with normal development and typical absence seizures starting before the age of 4 (with available pre-treatment video-EEG). Nine patients were included...
May 24, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28535409/mesial-temporal-lobe-epilepsy-diminishes-functional-connectivity-during-emotion-perception
#2
Bettina K Steiger, Angela M Muller, Esther Spirig, Gianina Toller, Hennric Jokeit
OBJECTIVES: Unilateral mesial temporal lobe epilepsy (MTLE) has been associated with impaired recognition of emotional facial expressions. Correspondingly, imaging studies showed decreased activity of the amygdala and cortical face processing regions in response to emotional faces. However, functional connectivity among regions involved in emotion perception has not been studied so far. METHODS: To address this, we examined intrinsic functional connectivity (FC) modulated by the perception of dynamic fearful faces among the amygdala and limbic, frontal, temporal and brainstem regions...
May 10, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28531620/compliance-of-pediatric-patients-with-refractory-epilepsy-to-ketogenic-modified-atkins-diet
#3
Sofia Zouganeli, Euaggelia Tasiou, Melpomeni Giorgi, Maria Tsirouda, Artemis Stefanede, Argirios Dinopoulos
No abstract text is available yet for this article.
June 2016: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/28529112/myeloid-differentiation-factor-88-is-up-regulated-in-epileptic-brain-and-contributes-to-experimental-seizures-in-rats
#4
Na Wang, Xiong Han, Haipeng Liu, Ting Zhao, Jie Li, Yan Feng, Xiujuan Mi, Yanke Zhang, Yanan Chen, Xuefeng Wang
Accumulating evidence supports that activation of inflammatory pathways is a crucial factor contributing to the pathogenesis of seizures. In particular, the activation of interleukin-1 beta (IL-1β) system exerts proconvulsant effects in a large variety of seizure models. Myeloid differentiation factor 88 (MyD88) is a critical adaptor protein in the signaling cascade elicited by IL-1β. The present study aimed to investigate the expression pattern of MyD88 in rat models of seizures and in patients with refractory temporal lobe epilepsy (TLE), and to study the role of MyD88 in epileptic seizures...
May 18, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28527061/ketogenic-diet-in-migraine-rationale-findings-and-perspectives
#5
Piero Barbanti, Luisa Fofi, Cinzia Aurilia, Gabriella Egeo, Massimiliano Caprio
Ketogenic diet (KD) is an established treatment for refractory pediatric epilepsy and a promising therapy for diverse neurological diseases. Clinical data on KD in migraine-obtained from 150 patients investigated in case reports and prospective studies-suggest that KD may be a rapid onset effective prophylaxis for episodic and chronic migraine. KD would contribute to restore brain excitability and metabolism and to counteract neuroinflammation in migraine, although its precise mechanism is still unclear. Randomized controlled studies are needed to confirm the usefulness of KD in migraine and to investigate its optimal duration, repeatability, feasibility in normal weight subjects, efficacy in pediatric population and association to conventional migraine prophylaxis...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28525652/determination-of-scn1a-genetic-variants-in-mexican-patients-with-refractory-epilepsy-and-dravet-syndrome
#6
R E Jiménez-Arredondo, A J L Brambila-Tapia, F M Mercado-Silva, M T Magaña-Torres, L E Figuera
Mutations in the SCN1A gene can result in syndromes associated with epilepsy, including the Dravet syndrome (DS). However, the prevalence of such mutations in these diseases varies widely between different studies, and has not been examined in Mexican patients with epilepsy. Therefore, the objective of this study was to determine the frequency of SCN1A mutations (in the exon 26) in a cohort of Mexican patients with DS and refractory epilepsy (RE). We recruited 24 Mexican patients (14 males and 10 females), of which 15 were diagnosed with RE and 9 were diagnosed with DS...
May 18, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28524796/improvement-of-visual-field-defects-after-focal-resection-for-occipital-lobe-epilepsy-case-report
#7
Takahiro Yamamoto, Tadashi Hamasaki, Hideo Nakamura, Kazumichi Yamada
Improvement of visual field defects after surgical treatment for occipital lobe epilepsy is rare. Here, the authors report on a 24-year-old man with a 15-year history of refractory epilepsy that developed after he had undergone an occipital craniotomy to remove a cerebellar astrocytoma at the age of 4. His seizures started with an elementary visual aura, followed by secondary generalized tonic-clonic convulsion. Perimetry revealed left-sided incomplete hemianopia, and MRI showed an old contusion in the right occipital lobe...
May 19, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28521115/anticonvulsant-profile-of-the-neuroactive-steroid-sge-516-in-animal-models
#8
Rebecca S Hammond, Alison L Althaus, Michael A Ackley, Carla Maciag, Gabriel Martinez Botella, Francesco G Salituro, Albert J Robichaud, James J Doherty
Despite the availability of multiple antiepileptic drugs (AED), failure to adequately control seizures is a challenge for approximately one third of epilepsy patients, and new therapies with a differentiated mechanism of action are needed. The neuroactive steroid, SGE-516, is a positive allosteric modulator of both gamma- and delta-containing GABAA receptors. This broad GABAA receptor activity differentiates neuroactive steroids like SGE-516 from benzodiazepines, a class of anticonvulsants which have been shown in vitro to selectively target gamma-subunit containing GABAA receptors...
May 7, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28521067/antiepileptic-drugs-for-the-treatment-of-infants-with-severe-myoclonic-epilepsy
#9
REVIEW
Francesco Brigo, Stanley C Igwe, Nicola Luigi Bragazzi
BACKGROUND: This is an updated version of the original Cochrane review published in 2015, Issue 10.Severe myoclonic epilepsy in infants (SMEI), also known as Dravet syndrome, is a rare, refractory form of epilepsy, for which stiripentol (STP) has been recently licensed as add-on therapy. OBJECTIVES: To evaluate the efficacy and tolerability of STP and other antiepileptic drug treatments (including ketogenic diet) for patients with SMEI. SEARCH METHODS: For the latest update we searched the Cochrane Epilepsy Group Specialized Register (20 December 2016), the Cochrane Central Register of Controlled Trials (CENTRAL) via the Cochrane Register of Studies Online (CRSO, 20 December 2016), MEDLINE (Ovid, 1946 to 20 December 2016) and ClinicalTrials...
May 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28520633/insular-cortex-surgery-for-the-treatment-of-refractory-epilepsy
#10
Marec von Lehe, Yaroslav Parpaley
Focal epilepsy originating from the insular cortex is rare. One reason is the small amount of cortical tissue compared with other lobes of the brain. However, the incidence of insular epilepsy might be underestimated because of diagnostic difficulties. The semiology and the surface EEG are often not meaningful or even misleading, and elaborated imaging might be necessary. The close connections of the insular cortex with other potentially epileptogenic areas, such as the temporal lobe or frontal/central cortex, is increasingly recognized as possible reason for failure of epilepsy surgery for temporal or extratemporal seizures...
May 16, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28511603/clinical-experience-with-perampanel-for-refractory-pediatric-epilepsy-in-one-canadian-center
#11
Anita N Datta, Qi Xu, Shafina Sachedina, Cyrus Boelman, Linda Huh, Mary B Connolly
Perampanel (PER) is a new antiseizure medication that inhibits the α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) class of glutamate receptors. It is important for physicians to be aware of the efficacy and tolerability of new drugs in the postmarketing phase. We performed a retrospective review of our experience with perampanel at BC Children's Hospital. Twenty-four pediatric patients prescribed perampanel from 2014 to 2016 were identified. Fifteen (63%) discontinued perampanel, and 10 (42%) had greater than 50% reduction in seizures...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28508994/disease-modifying-effects-of-neural-regeneration-peptide-2945-in-the-gaers-model-of-absence-epilepsy
#12
Gabi Dezsi, Frank Sieg, Mark Thomas, Terence J O'Brien, Marieke van der Hart, Nigel C Jones
Epilepsy is a common neurological condition characterised by spontaneous recurrent seizures. Current anti-epileptic drugs are only effective and tolerated in ~70% of patients, leaving a substantial proportion of patients untreated. As such, there is a pressing need to develop new therapies. We assessed the anti-seizure activity of Neural Regeneration Peptide 2945 (NRP 2945) in the GAERS model of absence epilepsy. Drug effects on seizures were assessed using two study designs. Male adult GAERS were implanted with EEG electrodes to measure seizure frequency...
May 16, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28506485/surgery-for-dysembryoplastic-neuroepithelial-tumors-and-gangliogliomas-in-eloquent-areas-functional-results-and-seizure-control
#13
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/28504645/molecular-isoforms-of-high-mobility-group-box-1-are-mechanistic-biomarkers-for-epilepsy
#14
Lauren Elizabeth Walker, Federica Frigerio, Teresa Ravizza, Emanuele Ricci, Karen Tse, Rosalind E Jenkins, Graeme John Sills, Andrea Jorgensen, Luca Porcu, Thimmasettappa Thippeswamy, Tiina Alapirtti, Jukka Peltola, Martin J Brodie, Brian Kevin Park, Anthony Guy Marson, Daniel James Antoine, Annamaria Vezzani, Munir Pirmohamed
Approximately 30% of epilepsy patients do not respond to antiepileptic drugs, representing an unmet medical need. There is evidence that neuroinflammation plays a pathogenic role in drug-resistant epilepsy. The high-mobility group box 1 (HMGB1)/TLR4 axis is a key initiator of neuroinflammation following epileptogenic injuries, and its activation contributes to seizure generation in animal models. However, further work is required to understand the role of HMGB1 and its isoforms in epileptogenesis and drug resistance...
May 15, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28503735/wdr45b-related-intellectual-disability-spastic-quadriplegia-epilepsy-and-cerebral-hypoplasia-a-consistent-neurodevelopmental-syndrome
#15
Jehan Suleiman, Diane Allingham-Hawkins, Mais Hashem, Hanan Shamseddin, Fowzan S Alkuraya, Ayman W El-Hattab
The advancement in genomic sequencing has greatly improved the diagnostic yield for neurodevelopmental disorders and led to the discovery of large number of novel genes associated with these disorders. WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of two large cohorts of affected individuals. In this report we present six individuals from three unrelated families with homozygous pathogenic variants in WDR45B: c.799C>T (p.Q267*) in one family and c.673C>T (p...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28500900/treatment-of-refractory-epilepsy-patients-with-autologous-mesenchymal-stem-cells-reduces-seizure-frequency-an-open-label-study
#16
Fedor Hlebokazov, Tatiana Dakukina, Svetlana Ihnatsenko, Svetlana Kosmacheva, Michael Potapnev, Antos Shakhbazau, Natalia Goncharova, Michael Makhrov, Pavel Korolevich, Nikolai Misyuk, Victoria Dakukina, Irina Shamruk, Elena Slobina, Sergei Marchuk
PURPOSE: Existing anti-epileptic drugs (AED) have limited efficiency in many patients, necessitating the search for alternative approaches such as stem cell therapy. We report the use of autologous patient-derived mesenchymal stem cells (MSC) as a therapeutic agent in symptomatic drug-resistant epilepsy in a Phase I open label clinical trial (registered as NCT02497443). PATIENTS AND METHODS: The patients received either standard treatment with AED (control group), or AED supplemented with single intravenous administration of undifferentiated autologous MSC (target dose of 1×10(6)cells/kg), followed by a single intrathecal injection of neurally induced autologous MSC (target dose of 0...
May 10, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28497130/not-all-that-glitters-is-gold-a-guide-to-critical-appraisal-of-animal-drug-trials-in-epilepsy
#17
Aristea S Galanopoulou, Wenzhu B Mowrey
Preclinical studies have produced numerous drugs with antiseizure properties which currently are the standard of care in clinical care. A third of the human population with epilepsy still continues having seizures despite the ongoing discoveries. The recognized clinical gaps of care that need to be addressed are the identification of antiepileptogenic and disease modifying treatments, treatments for refractory seizures or for seizures and epilepsies with limited or unsatisfactory treatments, such as early life epileptic encephalopathies...
December 2016: Epilepsia Open
https://www.readbyqxmd.com/read/28497109/hippocampal-tnf%C3%AE-signaling-contributes-to-seizure-generation-in-an-infection-induced-mouse-model-of-limbic-epilepsy
#18
Dipan C Patel, Glenna Wallis, E Jill Dahle, Pallavi B McElroy, Kyle E Thomson, Raymond J Tesi, David E Szymkowski, Peter J West, Roy M Smeal, Manisha Patel, Robert S Fujinami, H Steve White, Karen S Wilcox
Central nervous system infection can induce epilepsy that is often refractory to established antiseizure drugs. Previous studies in the Theiler's murine encephalomyelitis virus (TMEV)-induced mouse model of limbic epilepsy have demonstrated the importance of inflammation, especially that mediated by tumor necrosis factor-α (TNFα), in the development of acute seizures. TNFα modulates glutamate receptor trafficking via TNF receptor 1 (TNFR1) to cause increased excitatory synaptic transmission. Therefore, we hypothesized that an increase in TNFα signaling after TMEV infection might contribute to acute seizures...
March 2017: ENeuro
https://www.readbyqxmd.com/read/28492363/vagus-nerve-stimulation-improves-working-memory-performance
#19
Lihua Sun, Jari Peräkylä, Katri Holm, Joonas Haapasalo, Kai Lehtimäki, Keith H Ogawa, Jukka Peltola, Kaisa M Hartikainen
Vagus nerve stimulation (VNS) is used for treating refractory epilepsy and major depression. While the impact of this treatment on seizures has been established, its impact on human cognition remains equivocal. The goal of this study is to elucidate the immediate effects of vagus nerve stimulation on attention, cognition, and emotional reactivity in patients with epilepsy. Twenty patients (12 male and 8 female; 45 ± 13 years old) treated with VNS due to refractory epilepsy participated in the study. Subjects performed a computer-based test of executive functions embedded with emotional distractors while their brain activity was recorded with electroencephalography...
February 19, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28491900/screening-of-conventional-anticonvulsants-in-a-genetic-mouse-model-of-epilepsy
#20
Nicole A Hawkins, Lyndsey L Anderson, Tracy S Gertler, Linda Laux, Alfred L George, Jennifer A Kearney
OBJECTIVE: Epilepsy is a common neurological disorder that affects 1% of the population. Approximately, 30% of individuals with epilepsy are refractory to treatment, highlighting the need for novel therapies. Conventional anticonvulsant screening relies predominantly on induced seizure models. However, these models may not be etiologically relevant for genetic epilepsies. Mutations in SCN1A are a common cause of Dravet Syndrome, a severe epileptic encephalopathy. Dravet syndrome typically begins in infancy with seizures provoked by fever and then progresses to include afebrile pleomorphic seizure types...
May 2017: Annals of Clinical and Translational Neurology
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