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https://www.readbyqxmd.com/read/28436816/-almost-lost-at-sea-an-unusual-cause-of-cortical-blindness
#1
Jeffrey Walden, Edward Van Williamson
A middle-aged man with a history of type 2 diabetes mellitus, hypertension, hyperlipidemia, prior cerebral vascular accident, and remote history of generalized seizure disorder presented with worsening right-sided visual deficits and focal seizures. On examination the patient had dense homonymous hemianopsia on the right side. He was initially diagnosed with a stroke and underwent further investigation for potential causes. However, upon further review, magnetic resonance imaging (MRI) findings and repeat examination were more consistent with seizure-related effects on cortical brain matter as the cause of his visual disturbances rather than stroke...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28436627/-temporal-lobe-epilepsy-and-adult-hippocampal-neurogenesis
#2
Liying Chen, Yi Wang, Zhong Chen
Temporal lobe epilepsy (TLE) is a common and severe neurological disorder which is often intractable. It can not only damage the normal structure and function of hippocampus, but also affect the neurogenesis in dentate gyrus (DG). It is well documented from researches on the animal models of TLE that after a latent period of several days, prolonged seizure activity leads to a dramatic increase in mitotic activity in the hippocampal DG. However, cell proliferation returns to baseline levels within 3-4 weeks after status epilepticus (SE)...
January 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28436452/disrupted-neuronal-maturation-in-angelman-syndrome-derived-induced-pluripotent-stem-cells
#3
James J Fink, Tiwanna M Robinson, Noelle D Germain, Carissa L Sirois, Kaitlyn A Bolduc, Amanda J Ward, Frank Rigo, Stormy J Chamberlain, Eric S Levine
Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy affect. Here, we explored the underlying pathophysiology using induced pluripotent stem cell-derived neurons from AS patients and unaffected controls. AS-derived neurons showed impaired maturation of resting membrane potential and action potential firing, decreased synaptic activity and reduced synaptic plasticity...
April 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28434182/recent-trends-in-alcohol-and-other-drug-use-among-police-detainees-in-new-zealand-2010-2015
#4
Chris Wilkins, Jitesh Prasad, Karl Parker, Marta Rychert, Helen Moewaka Barnes
BACKGROUND: New Zealand has unusual patterns of recreational substance use by international standards including low levels of cocaine and heroin use, and high methamphetamine use. AIMS: This paper examines recent trends in alcohol and other drug use among police detainees in New Zealand over the past six years. METHOD: The paper utilises data from the New Zealand Arrestee Drug Use Monitoring (NZ-ADUM) study. NZ-ADUM interviewed approximately 800 police detainees each year at four central city police watch houses (i...
April 23, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28434139/neurological-manifestations-of-atypical-celiac-disease-in-childhood
#5
Çiğdem Genç Sel, Erhan Aksoy, Ayşe Aksoy, Deniz Yüksel, Ferda Özbay
Various typical and atypical neurological manifestations can be seen as the initial symptoms of celiac disease (CD). We suggest that gluten toxicity is the most suspicious triggering risk factor for probable pathophysiological pathways of neurological involvement in atypical CD. The medical charts of 117 patients diagnosed with atypical CD were retrieved from a tertiary center in Ankara, Turkey. Eight patients reported as having neurologic manifestations as initiating symptoms were evaluated in detail. The initial neurological manifestations of CD in our study included atypical absence, which was reported first in this study, generalized tonic-clonic seizures, complex partial seizures, severe axial hypotonia and down phenotype, multifocal leukoencephalopathy, mild optic neuritis, attention deficit hyperactivity disorder, and short duration headaches...
April 22, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28434133/stiripentol-in-the-management-of-epilepsy
#6
REVIEW
Katherine C Nickels, Elaine C Wirrell
Stiripentol is a structurally unique antiepileptic drug that has several possible mechanisms of action, including diverse effects on the gamma-aminobutyric acid (GABA)-A receptor and novel inhibition of lactate dehydrogenase. Because of its inhibition of several cytochrome P450 enzymes, it has extensive pharmacokinetic interactions, which often necessitates reduction in doses of certain co-therapies, particularly clobazam. Stiripentol also has a neuroprotective action, by reducing calcium-mediated neurotoxicity...
April 22, 2017: CNS Drugs
https://www.readbyqxmd.com/read/28433711/mdh2-is-an-rna-binding-protein-involved-in-downregulation-of-sodium-channel-scn1a-expression-under-seizure-condition
#7
Yong-Hong Chen, Shu-Jing Liu, Mei-Mei Gao, Tao Zeng, Guo-Wang Lin, Na-Na Tan, Hui-Ling Tang, Ping Lu, Tao Su, Wei-Wen Sun, Long-Chang Xie, Yong-Hong Yi, Yue-Sheng Long
Voltage-gated sodium channel α-subunit type I (NaV1.1, encoded by SCN1A gene) plays a critical role in the excitability of brain. Downregulation of SCN1A expression is associated with epilepsy, a common neurological disorder characterized by recurrent seizures. Here we reveal a novel role of malate dehydrogenase 2 (MDH2) in the posttanscriptional regulation of SCN1A expression under seizure condition. We identified that MDH2 was an RNA binding protein that could bind two of the four conserved regions in the 3' UTRs of SCN1A...
April 19, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28433423/prefrontal-cortex-expression-of-chromatin-modifier-genes-in-male-wsp-and-wsr-mice-changes-across-ethanol-dependence-withdrawal-and-abstinence
#8
Joel G Hashimoto, David P Gavin, Kristine M Wiren, John C Crabbe, Marina Guizzetti
Alcohol-use disorder (AUD) is a relapsing disorder associated with excessive ethanol consumption. Recent studies support the involvement of epigenetic mechanisms in the development of AUD. Studies carried out so far have focused on a few specific epigenetic modifications. The goal of this project was to investigate gene expression changes of epigenetic regulators that mediate a broad array of chromatin modifications after chronic alcohol exposure, chronic alcohol exposure followed by 8 h withdrawal, and chronic alcohol exposure followed by 21 days of abstinence in Withdrawal-Resistant (WSR) and Withdrawal Seizure-Prone (WSP) selected mouse lines...
March 14, 2017: Alcohol
https://www.readbyqxmd.com/read/28432012/novel-compound-heterozygous-mutations-in-the-pex1-gene-in-two-chinese-newborns-with-zellweger-syndrome-based-on-whole-exome-sequencing
#9
Meng-Meng Ge, LiYuan Hu, ZhiHua Li, GuoQiang Cheng, Kai Yan, YanTing Kong, HuiJun Wang, Lin Yang, WenHao Zhou
Peroxisome biogenesis disorders (PBDs) represent a spectrum of human genetic disorders that are characterized by damaged peroxisome assembly. In the newborn period, the characteristics of affected patients include dysmorphic facial features, neonatal hypotonia, seizures, ocular abnormalities, poor feeding, liver cysts with hepatic dysfunction and skeletal defects. These can be caused by a defect in at least 14 different PEX genes. In this study, whole-exome sequencing (WES) was performed on samples from two Chinese newborns with clinical features of Zellweger syndrome...
April 18, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28429635/congenital-hypothalamic-hamartoblastoma-versus-hamartoma
#10
C Dunham, D McFadden, L Dahlgren, B Butler, S Hamilton, M McKinnon
Pallister Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3. Since the seminal publication in 1980, hypothalamic tumors have been recognized to be a cardinal feature of PHS. In their original description of the neuropathologic features of PHS, Clarren et al. coined the term "hamartoblastoma" to characterize what they deemed to be a dual malformative and neoplastic mass of the hypothalamus. In subsequent published cases/series of PHS, the term "hamartoma" was often substituted for hamartoblastoma given what appeared to be a benign natural history of this lesion...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28427143/activity-induced-spontaneous-spikes-in-gabaergic-neurons-suppress-seizure-discharges-an-implication-of-computational-modeling
#11
Wei Lu, Jing Feng, Bo Wen, Kewei Wang, Jin-Hui Wang
BACKGROUND: Epilepsy, a prevalent neurological disorder, appears self-termination. The endogenous mechanism for seizure self-termination remains to be addressed in order to develop new strategies for epilepsy treatment. We aim to examine the role of activity-induced spontaneous spikes at GABAergic neurons as an endogenous mechanism in the seizure self-termination. METHODS AND RESULTS: Neuronal spikes were induced by depolarization pulses at cortical GABAergic neurons from temporal lobe epilepsy patients and mice, in which some of these neurons fired activity-induced spontaneous spikes...
February 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28427022/stereotypy-of-psychogenic-nonepileptic-seizures
#12
Moshe Herskovitz
Psychogenic nonepileptic seizures (PNES) are defined as paroxysmal episodes in which epileptic semiology features are manifested, without the characteristic concomitant electrical discharges seen in epileptic seizures. Although many studies have dealt with semiologic classification of PNES, most of the studies did not raise the question of consistency of PNES in the same patient. The aim of this study was to measure the degree of consistency of PNES among individual patients. We retrospectively reviewed medical records and video- EEG records of all adult patients who underwent monitoring in our center from August 1st 2013 to May 31st 2015...
April 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28427021/risk-factors-for-learning-problems-in-youth-with-psychogenic-non-epileptic-seizures
#13
Julia Doss, Rochelle Caplan, Prabha Siddarth, Brenda Bursch, Tatiana Falcone, Marcy Forgey, Kyle Hinman, W Curt LaFrance, Rebecca Laptook, Richard Shaw, Deborah Weisbrot, Matthew Willis, Sigita Plioplys
OBJECTIVES: This study examined the risk factors for learning problems (LP) in pediatric psychogenic non-epileptic seizures (PNES) and their specificity by comparing psychopathology, medical, cognitive/linguistic/achievement, bullying history, and parent education variables between subjects with PNES with and without LP and between subjects with PNES and siblings with LP. METHODS: 55 subjects with PNES and 35 siblings, aged 8-18years, underwent cognitive, linguistic, and achievement testing, and completed somatization and anxiety sensitivity questionnaires...
April 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28427019/transplantation-of-inhibitory-precursor-cells-from-medial-ganglionic-eminence-produces-distinct-responses-in-two-different-models-of-acute-seizure-induction
#14
Daisyléa de Souza Paiva, Simone Amaro Alves Romariz, Maria Fernanda Valente, Luiz Bruno Moraes, Luciene Covolan, Maria Elisa Calcagnotto, Beatriz Monteiro Longo
Medial ganglionic eminence (MGE) is one of the sources of inhibitory interneurons during development. Following transplantation in postnatal developing brain, MGE cells can increase local inhibition suggesting a possible protection to GABAergic dysfunction in brain disorders, such as epilepsy. Since it has been shown that MGE-derived cells harvested as neurospheres are able to suppress seizures, it might be important to investigate whether these protective effects would change in different seizure models. Here, we used pentylenetetrazole-(PTZ) and maximal electroshock (MES)-induced seizure models to test whether the transplantation of MGE cells would increase the threshold to trigger acute seizures...
April 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28426698/extensive-alterations-of-blood-metabolites-in-pediatric-cerebral-malaria
#15
Sanchit Gupta, Karl Seydel, Miguel A Miranda-Roman, Catherine M Feintuch, Alex Saidi, Ryung S Kim, Gretchen L Birbeck, Terrie Taylor, Johanna P Daily
Cerebral malaria (CM) presents as an encephalopathy and is due to infection with Plasmodium falciparum. Patients are comatose, often with fever, recurrent seizures and this condition is associated with a high mortality rate. The etiology of the coma and seizures are poorly understood. Circulating small molecules and lipids have bioactive functions and alterations in their concentrations have been implicated in seizure disorders and other forms of encephalopathy. We carried out a comprehensive analysis of blood metabolites during CM to explore a biochemical basis of this encephalopathy...
2017: PloS One
https://www.readbyqxmd.com/read/28425688/pediatric-epilepsy-and-psychiatric-comorbidity-preliminary-observational-data-from-a-prospective-study
#16
Michela Gatta, Alessia Raffagnato, Stefania Mannarini, Laura Balottin, Irene Toldo, Marilena Vecchi, Clementina Boniver
BACKGROUND: Several studies have confirmed psychiatric comorbidity and a worse quality of life in children with epilepsy, but the clinical assessment and monitoring of these patients often pays insufficient attention to their psychological aspects alongside their neurological issues. The present study aims to describe the distribution of psychopathologies and their clinical evolution over 18 months in a sample of children followed up since the onset of their epilepsy. METHODS: After being diagnosed with epilepsy, 49 subjects (age 4-18y) were followed up with psychiatric and psychological assessments based on the use of dimensional and categorical psychometric tools...
April 20, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28424861/s-ketamine-compared-to-etomidate-during-electroconvulsive-therapy-in-major-depression
#17
Maxim Zavorotnyy, Ina Kluge, Kathrin Ahrens, Thomas Wohltmann, Benjamin Köhnlein, Patricia Dietsche, Udo Dannlowski, Tilo Kircher, Carsten Konrad
Objective of the study was to compare two commonly used anesthetic drugs, S-ketamine and etomidate, regarding their influence on seizure characteristics, safety aspects, and outcome of electroconvulsive therapy (ECT) in major depression. Treatment data of 60 patients who underwent a total number of 13 ECTs (median) because of the severe or treatment-resistant major depressive disorder (DSM-IV) were analyzed. Etomidate, mean dosage (SD) = 0.25 (0.04) mg/kg, was used for anesthesia in 29 participants; 31 patients received S-ketamine, mean dosage (SD) = 0...
April 19, 2017: European Archives of Psychiatry and Clinical Neuroscience
https://www.readbyqxmd.com/read/28424304/giant-axonal-neuropathy-alters-the-structure-of-keratin-intermediate-filaments-in-human-hair
#18
Asfia Soomro, Richard J Alsop, Atsuko Negishi, Laurent Kreplak, Douglas Fudge, Edward R Kuczmarski, Robert D Goldman, Maikel C Rheinstädter
Giant axonal neuropathy (GAN) follows an autosomal recessive genetic inheritance and impedes the peripheral and central nervous system due to axonal swellings that are packed with neurofilaments. The patients display a number of phenotypes, including hypotonia, muscle weakness, decreased reflexes, ataxia, seizures, intellectual disability, pale skin and often curled hair. We used X-ray diffraction and tensile testing to determine potential changes to the structure of keratin intermediate filaments (IFs) in the hair of patients with GAN...
April 2017: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/28424147/treatment-of-leukoencephalopathy-with-calcifications-and-cysts-with-bevacizumab
#19
Alex J Fay, Allison A King, Joshua S Shimony, Yanick J Crow, Jan E Brunstrom-Hernandez
BACKGROUND: Leukoencephalopathy with calcifications and cysts is a rare, autosomal recessive cerebral microangiopathy that causes progressive white matter disease, calcifications, and cysts within the brain. It is typically associated with slowly progressive psychomotor regression, seizures, and movement disorders. Although leukoencephalopathy with calcifications and cysts affects only the central nervous system, it demonstrates remarkable neuropathologic and radiologic overlap with Coats plus, a disorder of small vessels of the brain, eyes, gastrointestinal tract, and bone...
March 23, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28424003/phenotypic-heterogeneity-in-a-congenital-disorder-of-glycosylation-caused-by-mutations-in-stt3a
#20
Arunabha Ghosh, Jill Urquhart, Sarah Daly, Anne Ferguson, Diana Scotcher, Andrew A M Morris, Jill Clayton-Smith
STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex. A congenital disorder of glycosylation caused by mutations in STT3A has only been reported in one family to date, associated with a Type I congenital disorder of glycosylation pattern of transferrin glycoforms. The authors describe a further 5 related individuals with a likely pathogenic variant in STT3A, 2 of whom also had variants in TUSC3. Common phenotypic features in all symptomatic individuals include developmental delay, intellectual disability, with absent speech and seizures...
May 2017: Journal of Child Neurology
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