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https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#1
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102593/a-case-for-cannabidiol-in-wolf-hirschhorn-syndrome-seizure-management
#2
Karen S Ho, E Robert Wassman
Complex, and sometimes intractable, seizures affect the quality of life and cognitive development of over 90% of individuals with Wolf-Hirschhorn syndrome (WHS). Fine resolution genotype-phenotype mapping of the WHS locus recently identified a candidate gene whose probable function has led to insights into a mechanism connecting WHS seizures with those of Dravet syndrome, a distinct condition caused by mutations in SCN1A and SCN1B. In addition to this possible molecular mechanistic connection, these disorders' seizures share a strikingly similar constellation of features, including clinical presentation, seizure types, early age of onset, EEG pattern, and responses to specific anti-epileptic drugs...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102460/neural-mass-models-as-a-tool-to-investigate-neural-dynamics-during-seizures
#3
Tatiana Kameneva, Tianlin Ying, Ben Guo, Dean R Freestone
Epilepsy is one of the most common neurological disorders and is characterized by recurrent seizures. We use theoretical neuroscience tools to study brain dynamics during seizures. We derive and simulate a computational model of a network of hippocampal neuronal populations. Each population within the network is based on a model that has been shown to replicate the electrophysiological dynamics observed during seizures. The results provide insights into possible mechanisms for seizure spread. We observe that epileptiform activity remains localized to a pathological region when a global connectivity parameter is less than a critical value...
January 19, 2017: Journal of Computational Neuroscience
https://www.readbyqxmd.com/read/28101479/excessive-daytime-sleepiness-and-sleep-disorders-in-a-population-of-patients-with-epilepsy-a-case-control-study
#4
Matilde Gammino, Leila Zummo, Anna Lo Bue, Lidia Urso, Valeria Terruso, Oreste Marrone, Brigida Fierro, Ornella Daniele
BACKGROUND AND PURPOSE: There are several primary causes for excessive daytime sleepiness (EDS) and sleep disorders in patients with epilepsy. Up to now, studies in the literature report conflicting data in terms of both prevalence and aetiology. The aim of our study was therefore to evaluate the prevalence of EDS and some sleep disorders in a population of patients with epilepsy treated with no more than two antiepileptic drugs (AEDs). We also investigated the role of the depression of mood as a variable that can negatively affect EDS...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28101476/psychometric-properties-of-the-persian-version-of-the-quality-of-life-in-epilepsy-inventory-in-the-later-life
#5
Abdolrahim Asadollahi, Laleh Fani Saberi, Ali Havasi, Mohammad-Hossein Kaveh
BACKGROUND AND PURPOSE: The reports indicate on the incidence of seizure disorder about 1.5 per cent of the normal elderly population. The Quality of Life in Epilepsy Inventory (QOLIE-31) has been pervasive simple tool to screen seizure in the busy neurophysiological settings and monitoring. It was constructed as self-administered tool in two formats, 89 and 31-items. To the reliability and validity of the QOLIE-31 across older adults in the southwest Iran and discuss its role in the detection of health-related quality of elderly patients with epilepsy...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28101475/anticonvulsive-effects-of-licofelone-on-status-epilepticus-induced-by-lithium-pilocarpine-in-wistar-rats-a-role-for-inducible-nitric-oxide-synthase
#6
Seyyed Majid Eslami, Mohammad Mobin Moradi, Mehdi Ghasemi, Ahmad Reza Dehpour
BACKGROUND AND PURPOSE: Status epilepticus (SE) is a neurological disorder with high prevalence and mortality rates, requiring immediate intervention. Licofelone is a cyclooxygenase (COX) and 5-lipoxygenase (5-LOX) inhibitor, which its effectiveness to treat osteoarthritis has been approved. Increasing evidence suggests an involvement of COX and LOX enzymes in epileptic disorders. Thus, in the present study we investigate possible effects of licofelone on prevention and termination of SE...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28100787/polymorphic-variants-of-human-protein-l-isoaspartyl-methyltransferase-affect-catalytic-activity-aggregation-and-thermal-stability-implications-for-the-etiology-of-neurological-disorders-and-cognitive-aging
#7
Charity Juang, Baihe Chen, Jean-Louis Bru, Katherine Nguyen, Eric Huynh, Mahsa Momen, Jeungjin Kim, Dana W Aswad
Protein L-isoaspartyl methyltransferase (PIMT/PCMT1), a product of the human pcmt1 gene, catalyzes repair of abnormal L-isoaspartyl linkages in age-damaged proteins. Pcmt1 knockout mice exhibit a profound neuropathology and die 30-60 days postnatal from an epileptic seizure. Here we express 15 reported variants of human PIMT and characterize them with regard to their enzymatic activity, thermal stability, and propensity to aggregation. One mutation, R36C, renders PIMT completely inactive, while two others, A7P and I58V, exhibit activity that is 80-100% higher than wild type...
January 18, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#8
John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand
Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28097810/physicochemical-and-biological-evaluation-of-a-cinnamamide-derivative-r-s-2e-1-3-hydroxypiperidin-1-yl-3-phenylprop-2-en-1-one-km-608-for-nervous-system-disorders
#9
Agnieszka Gunia-Krzyżak, Ewa Żesławska, Florence Bareyre, Wojciech Nitek, Anna M Waszkielewicz, Henryk Marona
A cinnamamide scaffold has been successfully incorporated in several compounds possessing desirable pharmacological activities in central and peripheral nervous system such as anticonvulsant, antidepressant, neuroprotective, analgesic, anti-inflammatory, muscle relaxant, and sedative/hypnotic properties. R,S-(2E)-1-(3-hydroxypiperidin-1-yl)-3-phenylprop-2-en-1-one (KM-608), a cinnamamide derivative, was synthesized, its chemical structure was confirmed by means of spectroscopy and crystallography, additionally thermal analysis showed that it exists in one crystalline form...
January 18, 2017: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#10
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28096104/recent-developments-in-the-surgical-management-of-paediatric-epilepsy
#11
REVIEW
Vijay M Ravindra, Matthew T Sweney, Robert J Bollo
Among the 1% of children affected by epilepsy, failure of pharmacological therapy and early age of seizure onset can lead to worse long-term cognitive outcomes, mental health disorders and impaired functional status. Surgical management often improves functional and cognitive outcomes in children with medically refractory epilepsy, especially when seizure remission is achieved. However, surgery remains underused in children with drug-resistant epilepsy, creating a large treatment gap. Several recent innovations have led to considerable improvement in surgical technique, including the recent development of minimally invasive diagnostic and therapeutic techniques such as stereotactic EEG, transcranial magnetic stimulation, MRI-guided laser ablation, as well as novel paradigms of neurostimulation...
January 17, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28095390/hydrogen-sulfide-promotes-learning-and-memory-and-suppresses-proinflammatory-cytokines-in-repetitive-febrile-seizures
#12
Fei Zhuang, Xuhong Zhou, Hong Li, Xiaochun Yang, Zewu Dong, Wendi Zhou, Jian Chen
OBJECTIVE: Hydrogen sulfide (H2S), as a novel gasotransmitter, plays important roles in a number of physiological and pathological processes. Its effectiveness has been demonstrated in different types of brain disorders but not in repetitive febrile seizure (febrile status epilepticus; FSE) models. This study aims to test whether a donor of H2S sodium sulfhydrate (NaHS) is also effective for FSE in rats. METHODS: FSE was induced in rat pups on postnatal day 10 in water at 45...
January 18, 2017: Neuroimmunomodulation
https://www.readbyqxmd.com/read/28094079/a-stroke-mimic-methotrexate-induced-neurotoxicity-in-the-emergency-department
#13
Patrick Rogers, Wilbur J Pan, Richard A Drachtman, Christopher Haines
BACKGROUND: Acute lymphoblastic leukemia (ALL) is the most common form of childhood leukemia. The treatment of ALL involves multimodality therapy, and methotrexate (MTX) remains a mainstay of treatment. A complication of MTX therapy includes acute, subacute, and chronic neurotoxocity. Signs and symptoms may range from headaches, dizziness, and mood disorders to seizures and stroke-like symptoms. CASE REPORT: An 18-year-old woman with a history of ALL presented to the emergency department with acute onset of right-sided facial paralysis, right upper extremity flaccid paralysis, and right lower extremity weakness after receiving MTX therapy 3 days earlier...
January 13, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28093374/predictors-of-pharmacological-intervention-in-adolescents-with-protracted-symptoms-after-sports-related-concussion
#14
Shanti M Pinto, Maria F Twichell, Luke C Henry
BACKGROUND: Though recovery after concussion is spontaneous and typically occurs within two to three weeks, a subset of adolescents develop persistent symptoms after a sports-related concussion. Medications are frequently prescribed as part of a comprehensive treatment approach to alleviate these symptoms; however, there are no guidelines for prescription of pharmacologic therapy after concussion. OBJECTIVE: To investigate common factors that are associated with the use of medications (anti-epileptic, anti-depressant, neurostimulant, or sleeping medication) during recovery from a sports-related concussion...
January 13, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28090790/loss-of-interneuron-derived-collagen-xix-leads-to-a-reduction-in-perineuronal-nets-in-the-mammalian-telencephalon
#15
Jianmin Su, James Cole, Michael A Fox
Perineuronal nets (PNNs) are lattice-like supramolecular assemblies of extracellular glycoproteins that surround subsets of neuronal cell bodies in the mammalian telencephalon. PNNs emerge at the end of the critical period of brain development, limit neuronal plasticity in the adult brain, and are lost in a variety of complex brain disorders diseases, including schizophrenia. The link between PNNs and schizophrenia led us to question whether neuronally expressed extracellular matrix (ECM) molecules associated with schizophrenia contribute to the assembly of these specialized supramolecular ECM assemblies...
February 2017: ASN Neuro
https://www.readbyqxmd.com/read/28089766/males-with-mecp2-c-terminal-related-atypical-rett-syndromes-and-their-carrier-mothers
#16
Gabriel M Ronen, Lauren I Brady, Mark A Tarnopolsky
BACKGROUND: This communication examines the expanding phenotypes of the MECP2 C-terminal atypical Rett syndromes in males and their affected carrier mothers. DESCRIPTIONS: We describe three males with normal karyotypes who presented with congenital evolving complex neurodevelopmental encephalopathies with multifaceted symptomatology of hypotonia, epilepsy, ataxia, spasticity, movement disorders, behavioral issues, severe intellectual impairment, and communication skills, and a protracted regression phase followed by stabilization...
October 25, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28088802/interplay-between-cortical-spreading-depolarization-and-seizures
#17
Daniel R Kramer, Tatsuhiro Fujii, Ifije Ohiorhenuan, Charles Y Liu
Cortical spreading depolarization (CSD) is an electrophysiologic phenomenon found mostly in the setting of neurologic injury resulting in the disturbance of ion homeostasis and leading to changes in the local vascular response. The bioelectric etiology of CSD shares similarities to those in epileptic disorders, yet the relationship between seizures and CSD is unclear, with several studies observing cortical depression before, during, and after seizure activity, thus obscuring our understanding of whether CSD activity potentiates or limits seizures and vice versa...
January 14, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28087785/thermolytic-degradation-of-synthetic-cannabinoids-chemical-exposures-and-pharmacological-consequences
#18
Brian F Thomas, Timothy W Lefever, Ricardo A Cortes, Alexander L Kovach, Anderson O Cox, Purvi R Patel, Gerald T Pollard, Julie A Marusich, Richard A Kevin, Thomas F Gamage, Jenny L Wiley
Synthetic cannabinoids are manufactured clandestinely with little quality control and are distributed as herbal "Spice" for smoking or as bulk compound for mixing with a solvent and inhalation via electronic vaporizers. Intoxication with synthetic cannabinoids has been associated with seizure, excited delirium, coma, kidney damage, and other disorders. The chemical alterations produced by heating these structurally novel compounds for consumption are largely unknown. Here we show that heating synthetic cannabinoids containing tetramethylcyclopropyl-ring substituents produced thermal degradants with pharmacological activity that varied considerably from their parent compounds...
January 13, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/28087732/novel-gnb1-mutations-disrupt-assembly-and-function-of-g-protein-heterotrimers-and-cause-global-developmental-delay-in-humans
#19
Katja Lohmann, Ikuo Masuho, Dipak N Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, Kirill A Martemyanov
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087462/impact-of-disease-linked-mutations-targeting-the-oligomerization-interfaces-of-aldehyde-dehydrogenase-7a1
#20
David A Korasick, John J Tanner, Michael T Henzl
Aldehyde dehydrogenase 7A1 (ALDH7A1) is involved in lysine catabolism, catalyzing the oxidation of α-aminoadipate semialdehyde to α-aminoadipate. Certain mutations in the ALDH7A1 gene, which are presumed to reduce catalytic activity, cause an autosomal recessive seizure disorder known as pyridoxine-dependent epilepsy (PDE). Although the genetic association between ALDH7A1 and PDE is well established, little is known about the impact of PDE-mutations on the structure and catalytic function of the enzyme. Herein we report the first study of the molecular consequences of PDE mutations using purified ALDH7A1 variants...
January 10, 2017: Chemico-biological Interactions
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