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https://www.readbyqxmd.com/read/29471054/developmental-changes-of-gaba-immunoreactivity-in-cortico-thalamic-networks-of-an-absence-seizure-model
#1
REVIEW
Cristiano Bombardi, Marcello Venzi, Vincenzo Crunelli, Giuseppe Di Giovanni
Absence seizures (ASs) are associated with abnormalities in gamma-aminobutyric acid (GABA) neurotransmission in the thalamus and the cortex. In the present study, we used light microscopy GABA immunocytochemistry to quantify the GABA-immunoreactive (GABA-IR) neurons and neuropil in the thalamic ventral basal (VB) nucleus, the nucleus reticularis thalami (NRT), the dorsal lateral geniculate (dLGN), the primary motor cortex (M1) and perioral region of the somatosensory cortex (S1po) of genetic absence epilepsy rats from Strasbourg (GAERS)...
February 19, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29468672/ca-v-3-2-drives-sustained-burst-firing-which-is-critical-for-absence-seizure-propagation-in-reticular-thalamic-neurons
#2
Stuart M Cain, John R Tyson, Hyun-Beom Choi, Rebecca Ko, Paulo J C Lin, Jeffrey M LeDue, Kim L Powell, Louis-Philippe Bernier, Ravi L Rungta, Yi Yang, Pieter R Cullis, Terence J O'Brien, Brian A MacVicar, Terrance P Snutch
OBJECTIVE: Genetic alterations have been identified in the CACNA1H gene, encoding the CaV 3.2 T-type calcium channel in patients with absence epilepsy, yet the precise mechanisms relating to seizure propagation and spike-wave-discharge (SWD) pacemaking remain unknown. Neurons of the thalamic reticular nucleus (TRN) express high levels of CaV 3.2 calcium channels, and we investigated whether a gain-of-function mutation in the Cacna1h gene in Genetic Absence Epilepsy Rats from Strasbourg (GAERS) contributes to seizure propagation and pacemaking in the TRN...
February 21, 2018: Epilepsia
https://www.readbyqxmd.com/read/29468181/seizure-semiology-an-important-clinical-clue-to-the-diagnosis-of-autoimmune-epilepsy
#3
Rui-Juan Lv, Hai-Tao Ren, Hong-Zhi Guan, Tao Cui, Xiao-Qiu Shao
Objective: The purpose of this study is to analyze the seizure semiologic characteristics of patients with autoimmune epilepsy (AE) and describe the investigation characteristics of AE using a larger sample size. Methods: This observational retrospective case series study was conducted from a tertiary epilepsy center between May 2014 and March 2017. Cases of new-onset seizures were selected based on laboratory evidence of autoimmunity. At the same time, typical mesial temporal lobe epilepsy (MTLE) patients with hippocampal sclerosis (HS) were recruited as the control group from the subjects who underwent presurgical evaluation during the same period...
February 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29466436/loss-of-hcn2-leads-to-delayed-gastrointestinal-motility-and-reduced-energy-intake-in-mice
#4
Daniel W Fisher, Phillip Luu, Neha Agarwal, Jonathan E Kurz, Dane M Chetkovich
Hyperpolarization-activated Cyclic Nucleotide-gated (HCN) channels are important regulators of excitability in neural, cardiac, and other pacemaking cells, which are often altered in disease. In mice, loss of HCN2 leads to cardiac dysrhythmias, persistent spike-wave discharges similar to those seen in absence epilepsy, ataxia, tremor, reduced neuropathic and inflammatory pain, antidepressant-like behavior, infertility, and severely restricted growth. While many of these phenotypes have tissue-specific mechanisms, the cause of restricted growth in HCN2 knockout animals remains unknown...
2018: PloS One
https://www.readbyqxmd.com/read/29465899/electroclinical-and-prognostic-characteristics-of-epilepsy-patients-with-photosensitivity
#5
Hülya Olgun Yazar, Günay Gül, Tamer Yazar, Fulya Eren, Demet-Yandım Kuscu, Dursun Kirbas
Background and purpose: Epilepsy with photosensitivity (PSE) is one of the reflex epilepsy types with pathophysiology still unexplained. In our study we aimed to evaluate the clinical, electroencephalogram (EEG) and prognosis of patients with PSE diagnosis. Methods: A total of 44 patients with PSE diagnosis according to international classification were included in this retrospective and cross-sectional study. The age, gender, syndrome, clinical and EEG characteristics of patients, and treatment response were investigated...
January 30, 2018: Ideggyógyászati Szemle
https://www.readbyqxmd.com/read/29457994/uric-acid-and-allopurinol-aggravate-absence-epileptic-activity-in-wistar-albino-glaxo-rijswijk-rats
#6
Renáta Krisztina Lakatos, Árpád Dobolyi, Zsolt Kovács
Uric acid has a role in several physiological and pathophysiological processes. For example, uric acid may facilitate seizure generalization while reducing uric acid level may evoke anticonvulsant/antiepileptic effects. Allopurinol blocks the activity of xanthine oxidase, by which allopurinol inhibits catabolism of hypoxanthine to xanthine and uric acid and, as a consequence, decreases the level of uric acid. Although the modulation of serum uric acid level is a widely used strategy in the treatment of certain diseases, our knowledge regarding the effects of uric acid on epileptic activity is far from complete...
February 16, 2018: Brain Research
https://www.readbyqxmd.com/read/29454607/italian-wikipedia-and-epilepsy-an-infodemiological-study-of-online-information-seeking-behavior
#7
Francesco Brigo, Simona Lattanzi, Giorgia Giussani, Laura Tassi, Nicola Pietrafusa, Carlo Andrea Galimberti, Raffaele Nardone, Nicola Luigi Bragazzi, Oriano Mecarelli
Wikipedia is the most commonly accessed source of health information by both healthcare professionals and the lay public worldwide. We aimed to evaluate information-seeking behavior of Internet users searching the Italian Wikipedia for articles related to epilepsy and its treatment. Using Pageviews Analysis, we assessed the total and mean monthly views of articles from the Italian Wikipedia devoted to epilepsy, epileptic syndromes, seizure type, and antiepileptic drugs (AEDs) from January 1, 2015 to October 31, 2017...
February 14, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29444764/clinical-radiological-pathological-correlation-in-an-unusual-case-of-refractory-epilepsy-a-two-year-journey-of-whodunit
#8
Deepak Menon, Ramshekhar N Menon, Chandrasekharan Kesavadas, Anita Mahadevan, Ashalatha Radhakrishnan, Sudheeran Kannoth, Pradeep P Nair, Mathew Abraham, Bejoy Thomas, Sanjeev V Thomas
New-onset refractory focal epilepsy poses significant challenges to the clinician in the absence of specific diagnostic biomarkers. Differential diagnoses based on imaging may be expanded by a veritable spectrum of peri-ictal imaging findings that may mask the underlying substrate. We report a 13-year-old girl who presented with refractory focal seizures of left parieto-occipital origin with cytotoxic gyral oedema noted over the same region on imaging. Despite an initial negative autoantibody profile, the patient was treated with immunosuppression, followed by serial relapses requiring immune-modulation...
February 14, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29443755/argininemia-as-a-cause-of-severe-chronic-stunting-and-partial-growth-hormone-deficiency-pghd-a-case-report
#9
Xiaotang Cai, Dan Yu, Yongmei Xie, Hui Zhou
RATIONALE: Argininemia is an autosomal recessive inherited disorder of the urea cycle. Because of its atypical symptoms in early age, diagnosis can be delayed until the typical chronic manifestations - including spastic diplegia, deterioration in cognitive function, and epilepsy - appear in later childhood. PATIENT CONCERNS: A Chinese boy initially presented with severe stunting and partial growth hormone deficiency (PGHD) at 3 years old and was initially treated with growth hormone replacement therapy...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29435091/controlling-mechanism-of-absence-seizures-by-deep-brain-stimulus-applied-on-subthalamic-nucleus
#10
Bing Hu, Yu Guo, Xiaoqiang Zou, Jing Dong, Long Pan, Min Yu, Zhejia Yang, Chaowei Zhou, Zhang Cheng, Wanyue Tang, Haochen Sun
Based on a classical model of the basal ganglia thalamocortical network, in this paper, we employed a type of the deep brain stimulus voltage on the subthalamic nucleus to study the control mechanism of absence epilepsy seizures. We found that the seizure can be well controlled by turning the period and the duration of current stimulation into suitable ranges. It is the very interesting bidirectional periodic adjustment phenomenon. These parameters are easily regulated in clinical practice, therefore, the results obtained in this paper may further help us to understand the treatment mechanism of the epilepsy seizure...
February 2018: Cognitive Neurodynamics
https://www.readbyqxmd.com/read/29423566/clinical-and-neuroimaging-features-of-autosomal-recessive-spastic-paraplegia-35-spg35-case-reports-new-mutations-and-brief-literature-review
#11
Francesco Mari, Beatrice Berti, Alessandro Romano, Jacopo Baldacci, Riccardo Rizzi, M Grazia Alessandrì, Alessandra Tessa, Elena Procopio, Anna Rubegni, Charles Marques Lourenḉo, Alessandro Simonati, Renzo Guerrini, Filippo Maria Santorelli
Spastic paraplegia 35 (SPG35) is a recessive condition characterized by childhood onset, progressive course, complicated by dystonia, dysarthria, cognitive impairment, and epilepsy. Mutations in the FA2H gene have been described in several families, leading to the proposal of a single entity, named fatty acid hydrolase-associated neurodegeneration (FAHN). Several reports have described a polymorphic radiological picture with white matter lesions of various degrees and a distinct form of neurodegeneration with brain iron accumulation...
February 8, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29414525/electrographic-and-pharmacological-characterization-of-a-progressive-epilepsy-phenotype-in-female-mecp2-deficient-mice
#12
Robert G Wither, Sinisa Colic, Berj L Bardakjian, O Carter Snead, Liang Zhang, James H Eubanks
Rett Syndrome is a neurodevelopmental disorder caused primarily by mutations in the gene encoding Methyl-CpG-binding protein 2 (MECP2). Spontaneous epileptiform activity is a common co-morbidity present in Rett syndrome, and hyper-excitable neural networks are present in MeCP2-deficient mouse models of Rett syndrome. In this study we conducted a longitudinal assessment of spontaneous cortical electrographic discharges in female MeCP2-deficient mice and defined the pharmacological responsiveness of these discharges to anti-convulsant drugs...
January 26, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29414404/the-cortical-focus-in-childhood-absence-epilepsy-evidence-from-nonlinear-analysis-of-scalp-eeg-recordings
#13
Ptolemaios G Sarrigiannis, Yifan Zhao, Fei He, Stephen A Billings, Kathleen Baster, Chris Rittey, John Yianni, Panagiotis Zis, Hualiang Wei, Marios Hadjivassiliou, Richard Grünewald
OBJECTIVE: To determine the origin and dynamic characteristics of the generalised hyper-synchronous spike and wave (SW) discharges in childhood absence epilepsy (CAE). METHODS: We applied nonlinear methods, the error reduction ratio (ERR) causality test and cross-frequency analysis, with a nonlinear autoregressive exogenous (NARX) model, to electroencephalograms (EEGs) from CAE, selected with stringent electro-clinical criteria (17 cases, 42 absences). We analysed the pre-ictal and ictal strength of association between homologous and heterologous EEG derivations and estimated the direction of synchronisation and corresponding time lags...
January 8, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29414380/gene-therapy-mediated-seizure-suppression-in-genetic-generalised-epilepsy-neuropeptide-y-overexpression-in-a-rat-model
#14
Kim L Powell, Xavier Fitzgerald, Claire Shallue, Valentina Jovanovska, Matthias Klugmann, Georg Von Jonquieres, Terence J O'Brien, Margaret J Morris
Neuropeptide Y (NPY) is an important 36 amino acid peptide that is abundantly expressed in the mammalian CNS and is known to be an endogenous modulator of seizure activity, including in rat models of Genetic Generalised Epilepsy (GGE) with absence seizures. Studies have shown that viral-mediated "gene therapy" with overexpression of NPY in the hippocampus can suppress seizures in acquired epilepsy animal models. This study investigated whether NPY gene delivery to the thalamus or somatosensory cortex, using recombinant adeno-associated viral vector (rAAV), could produce sustained seizure suppression in the GAERS model of GGE with absence seizures...
January 29, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29412101/decreased-erp57-expression-in-wag-rij-rats-thalamus-and-cortex-possible-correlation-with-absence-epilepsy
#15
Deniz Sahin, Sabriye Karadenizli, Murat Kasap, Berrin Oztas, Hale Maral Kir, Gurler Akpinar, Nurbay Ates
The role of intracellular proteins in the pathogenesis of absence epilepsy were mentioned. These proteins are thought to be related to energy generation, signal transduction, inflammation processes and membrane conductance. The investigation of protein profile of the genetically epileptic rat brains was the main subject of this study. For this, a 2D-gel electrophoresis based comparative proteome analysis was performed using thalamus tissue of genetic absence epileptic WAG/Rij and age matched Wistar rats. Regulated spots displaying differences in their abundance were identified using MALDI-TOF/TOF...
February 6, 2018: Protein and Peptide Letters
https://www.readbyqxmd.com/read/29402631/a-brief-history-of-typical-absence-seizures-petit-mal-revisited
#16
REVIEW
Francesco Brigo, Eugen Trinka, Simona Lattanzi, Nicola Luigi Bragazzi, Raffaele Nardone, Mariano Martini
In this article, we have traced back the history of typical absence seizures, from their initial clinical description to the more recent nosological position. The first description of absence seizures was made by Poupart in 1705 and Tissot in 1770. In 1824, Calmeil introduced the term "absences", and in 1838, Esquirol for the first time used the term petit mal. Reynolds instead used the term "epilepsia mitior" (milder epilepsy) and provided a comprehensive description of absence seizures (1861). In 1854, Delasiauve ranked absences as the seizure type with lower severity and introduced the concept of idiopathic epilepsy...
February 2, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29396358/impact-of-sleep-disorders-on-the-risk-of-seizure-recurrence-in-juvenile-myoclonic-epilepsy
#17
Laura Buratti, Alice Natanti, Giovanna Viticchi, Lorenzo Falsetti, Simona Lattanzi, Alessandra Pulcini, Cristina Petrelli, Leandro Provinciali, Mauro Silvestrini
OBJECTIVE: The aim of this study was to investigate the presence of sleep disturbances in patients with juvenile myoclonic epilepsy (JME) using sleep questionnaires. Further, we tried to evaluate whether alterations in sleep quality may influence the clinical expression of JME. METHODS: Sixty-two patients with JME treated with levetiracetam were included. Demographic and clinical variables were collected. Moreover, all patients submitted the Pittsburgh Sleep Quality index (PSQI) and the Epworth Sleepiness Scale (ESS) in order to respectively assess sleep quality during the last month and daytime sleepiness...
January 19, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29390462/anaplastic-astrocytoma-with-aquaporin-4-positive-in-csf-a-case-report
#18
Yuanyuan Liu, Feng Gao, Hongjun Hao, Weiping Sun, Yining Huang
RATIONALE: An acute presentation with diffuse magnetic resonance imaging lesions can have a broad differential. Demyelination and malignancy are important considerations. Therefore, sometimes it is hard to differentiate glioma from some demyelinating diseases solely on imaging because of the similar clinical presentation and imaging features. Detection of highly specific serum autoantibody marker aquaporin-4 (AQP4)-IgG positivity has helped to define a category of neuromyelitis optica spectrum disorders (NMOSD), but the test of AQP4 antibody has not been reported in patients with glioma...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29390378/early-onset-epileptic-encephalopathy-with-a-novel-gabrb3-mutation-treated-effectively-with-clonazepam-a-case-report
#19
Yi Zhang, Yajun Lian, Nanchang Xie
RATIONALE: Early onset epileptic encephalopathy (EOEE) is one of the most serious early onset epilepsies. The etiopathology of this condition remains unclear, and recent evidence indicated that gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 (GABRB3) gene mutations might be associated with EOEE. Furthermore, the therapeutic regimen for EOEE has yet to be well elucidated. Herein, we reported the clinical and genetic features of a case with GABRB3-related EOEE. PATIENT CONCERNS: A 6-year-old girl developed epileptic seizures 3 days after birth...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29377096/delayed-myelination-and-neurodevelopment-in-male-seizure-prone-versus-seizure-resistant-rats
#20
Pragati Sharma, Kim L Powell, Mary E Wlodek, Terence J O'Brien, Krista L Gilby
OBJECTIVE: Aberrant myelination and developmental delay have been reported in epilepsy. However, it is unclear whether these are linked to intrinsic mechanisms that support a predisposition toward seizures and the development of epilepsy. Thus, we compared rates of myelination and neurodevelopment in male rats selectively bred for enhanced susceptibility to kindling epileptogenesis (FAST) with male rats bred for resistance (SLOW). METHODS: Myelin-specific gene expression was compared in the brainstem, cerebellum, and cerebral hemisphere of FAST and SLOW rats on postnatal days (PNDs) 5, 11, 17, 23, and 90 to determine strain-specific myelination rates...
January 28, 2018: Epilepsia
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