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Seizures

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https://www.readbyqxmd.com/read/29145497/rare-genetic-variants-in-the-endocannabinoid-system-genes-cnr1-and-dagla-are-associated-with-neurological-phenotypes-in-humans
#1
Douglas R Smith, Christine M Stanley, Theodore Foss, Richard G Boles, Kevin McKernan
Rare genetic variants in the core endocannabinoid system genes CNR1, CNR2, DAGLA, MGLL and FAAH were identified in molecular testing data from 6,032 patients with a broad spectrum of neurological disorders. The variants were evaluated for association with phenotypes similar to those observed in the orthologous gene knockouts in mice. Heterozygous rare coding variants in CNR1, which encodes the type 1 cannabinoid receptor (CB1), were found to be significantly associated with pain sensitivity (especially migraine), sleep and memory disorders-alone or in combination with anxiety-compared to a set of controls without such CNR1 variants...
2017: PloS One
https://www.readbyqxmd.com/read/29145442/downregulation-of-kcnmb4-expression-and-changes-in-bk-channel-subtype-in-hippocampal-granule-neurons-following-seizure-activity
#2
Luke E Whitmire, Ling Ling, Vladslav Bugay, Chase M Carver, Santosh Timilsina, Hui-Hsiu Chuang, David B Jaffe, Mark S Shapiro, Jose E Cavazos, Robert Brenner
A major challenge is to understand maladaptive changes in ion channels that sets neurons on a course towards epilepsy development. Voltage- and calcium-activated K+ (BK) channels contribute to early spike timing in neurons, and studies indicate that the BK channel plays a pathological role in increasing excitability early after a seizure. Here, we have investigated changes in BK channels and their accessory β4 subunit (KCNMB4) in dentate gyrus (DG) granule neurons of the hippocampus, key neurons that regulate excitability of the hippocampus circuit...
2017: PloS One
https://www.readbyqxmd.com/read/29145186/the-kl%C3%A3-ver-bucy-syndrome
#3
Douglas J Lanska
In 1937, Heinrich Klüver and Paul Bucy described a dramatic behavioral syndrome in monkeys after bilateral temporal lobectomy. The full Klüver-Bucy syndrome (KBS) - hyperorality, placidity, hypermetamorphosis, dietary changes, altered sexual behavior, and visual agnosia - is evident within 3 weeks following operation. Some KBS features (i.e., hyperorality, placidity, hypermetamorphosis) persist indefinitely, whereas others gradually resolve over several years. Klüver and Bucy were initially unaware of an earlier report of KBS by Sanger Brown and Edward Schäfer in 1888...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29145168/frontal-infraslow-activity-marks-the-motor-spasms-of-anti-lgi1-encephalitis
#4
Richard Wennberg, Claude Steriade, Robert Chen, Danielle Andrade
OBJECTIVE: The clinical and electrographic features of seizures in anti-LGI1 encephalitis are distinct from those seen in other autoimmune encephalitides or non-encephalitic epilepsies. One electroclinical phenomenon specific to the condition consists of lateralized motor spasms, known as faciobrachial dystonic seizures (FBDS). An electrodecremental pattern overriding a "DC shift" has been described as the EEG correlate of these spasms. We sought to further characterize this pre-spasm infraslow activity (ISA)...
October 28, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29144993/evaluate-the-effects-of-antiepileptic-drugs-on-reproductive-endocrine-system-in-newly-diagnosed-female-epileptic-patients-receiving-either-valproate-or-lamotrigine-monotherapy-a-prospective-study
#5
Harpreet Singh Sidhu, R Srinivasa, Akshay Sadhotra
OBJECTIVE: To investigate the development of reproductive endocrine changes in Indian women with epilepsy initiating on either Valproate (VPA) or Lamotrigine (LTG) monotherapy. METHODS: Reproductive hormonal profiles, hirsutism, ovarian morphology by ultrasonography and menstrual cycle data in newly diagnosed women with epilepsy taking VPA (n=34) or LTG (n=32) monotherapy were compared. None of the women were receiving hormonal contraception. Patients gave details of seizure type and frequency, medical and drug history...
October 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29144992/intracerebroventricular-injection-of-mir-146a-relieves-seizures-in-an-immature-rat-model-of-lithium-pilocarpine-induced-status-epilepticus
#6
Xiaole Wang, Fei Yin, Linhong Li, Huimin Kong, Baiyang You, Weixi Zhang, Shuyuan Chen, Jing Peng
OBJECTIVE: Status epilepticus (SE) is a common, life-threatening neurological emergency that confers a high degree of morbidity and mortality. Increasing evidence indicates that neuroinflammation plays a critical role in the pathogenesis of SE. MicroRNA-146a (miR-146a) has been reported to be an important posttranscriptional inflammation-associated microRNA. The aim of this study was to investigate the effect of miR-146a in SE and the mechanism by which it operates. METHODS: To study the effect of miR-146a in SE, we chose intracerebroventricular injection for rat at 21-28days old, and made a lithium-pilocarpine-induced SE rat model...
November 4, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29144819/a-case-of-giant-prolactinoma-presenting-with-a-seizure-successfully-treated-with-medical-therapy-with-1-year-follow-up
#7
Shazia Ahmad, Jalaja Joseph
No abstract text is available yet for this article.
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29144406/evaluating-differences-in-aluminum-exposure-through-parenteral-nutrition-in-neonatal-morbidities
#8
Megan Fortenberry, Lela Hernandez, Jacob Morton
Aluminum is a common contaminant in many components of parenteral nutrition, especially calcium and phosphate additives. Although long-term effects have been described in the literature, short-term effects are not well-known. Currently, the Food and Drug Administration recommends maintaining aluminum at <5 mcg/kg/day. This was a single center, retrospective case-control study of 102 neonatal intensive care unit patients. Patients were included if they had a diagnosis of necrotizing enterocolitis, rickets/osteopenia, or seizures and received at least 14 days of parenteral nutrition...
November 16, 2017: Nutrients
https://www.readbyqxmd.com/read/29143800/hungry-neurons-metabolic-insights-on-seizure-dynamics
#9
REVIEW
Paolo Bazzigaluppi, Azin Ebrahim Amini, Iliya Weisspapir, Bojana Stefanovic, Peter L Carlen
Epilepsy afflicts up to 1.6% of the population and the mechanisms underlying the appearance of seizures are still not understood. In past years, many efforts have been spent trying to understand the mechanisms underlying the excessive and synchronous firing of neurons. Traditionally, attention was pointed towards synaptic (dys)function and extracellular ionic species (dys)regulation. Recently, novel clinical and preclinical studies explored the role of brain metabolism (i.e., glucose utilization) of seizures pathophysiology revealing (in most cases) reduced metabolism in the inter-ictal period and increased metabolism in the seconds preceding and during the appearance of seizures...
October 28, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29143207/contribution-of-eeg-in-transient-neurological-deficits
#10
Pierre Lozeron, Nadine Carole Tcheumeni, Sahar Turki, Hélène Amiel, Elodie Meppiel, Sana Masmoudi, Caroline Roos, Isabelle Crassard, Patrick Plaisance, Houria Benbetka, Jean-Pierre Guichard, Emmanuel Houdart, Hélène Baudoin, Nathalie Kubis
Identification of stroke mimics and 'chameleons' among transient neurological deficits (TND) is critical. Diagnostic workup consists of a brain imaging study, for a vascular disease or a brain tumour and EEG, for epileptiform discharges. The precise role of EEG in this diagnostic workup has, however, never been clearly delineated. However, this could be crucial in cases of atypical or incomplete presentation with consequences on disease management and treatment. We analysed the EEG patterns on 95 consecutive patients referred for an EEG within 7 days of a TND with diagnostic uncertainty...
November 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29142147/accidental-afloqualone-intoxication-in-two-dogs
#11
Jin-Ok Ahn, Won-Joung Jaung, Sang-Heum Won, Min-Ok Ryu, Woo-Jin Song, Kee-Ok Jeon, Jin-Young Chung, Hwa-Young Youn
Two dogs presented to the emergency service after accidental ingestion of afloqualone tablets, a muscle relaxant used for back pain in humans. Toxic effects of the drug in these dogs included vomiting, respiratory depression, seizures, ataxia, bradycardia, and hematuria. Treatment consisted of fluid diuresis, furosemide, and propofol. Flumazenil, a gamma-amino butyric acid antagonist, was administered intravenously; however, it was not effective in stopping the seizures in these dogs. Both dogs recovered with supportive treatment...
November 14, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/29142081/genetic-and-molecular-regulation-of-extrasynaptic-gaba-a-receptors-in-the-brain-therapeutic-insights-for-epilepsy
#12
Shu-Hui Chuang, Doodipala Samba Reddy
GABA-A receptors play a pivotal role in many brain diseases. Epilepsy is caused by acquired conditions and genetic defects in GABA receptor channels regulating neuronal excitability in the brain. The latter is referred to as GABA channelopathies. In the last two decades, major advances have been made in the genetics of epilepsy. The presence of specific GABAergic genetic abnormalities leading to some of the classical epileptic syndromes has been identified. Advances in molecular cloning and recombinant systems have helped characterize mutations in GABA-A receptor subunit genes in clinical neurology...
November 15, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29141829/cerebral-cortical-encephalitis-followed-by-recurrent-cns-demyelination-in-a-patient-with-concomitant-anti-mog-and-anti-nmda-receptor-antibodies
#13
Lei Zhou, Jingzi ZhangBao, Haiqing Li, Xiaoyang Li, Yongheng Huang, Min Wang, Chongbo Zhao, Jiahong Lu, Chuanzhen Lu, Yuxin Li, Chao Quan
We report the case of a patient who initially presented with fever, headache and seizure. MRI revealed a fluid attenuation inversion recovery (FLAIR) high-intensity lesion involving the right temporal, parietal and occipital cortex. Afterwards, the patient developed three recurrent episodes, manifested as brainstem encephalitis, optic neuritis and ADEM-like illness successively, indicating demyelination. Both of his serum anti-MOG and CSF anti-NMDAR antibodies were proved positive by transfected cell based assays...
November 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29141794/short-term-outcome-of-adem-results-from-a-retrospective-cohort-study-from-south-india
#14
Mary Iype, P A Mohammed Kunju, Geetha Saradakutty, T S Anish, Mini Sreedharan, Shahanaz M Ahamed
INTRODUCTION: Acute disseminated encephalomyelitis (ADEM), an immune mediated inflammatory disease is common in children. The profile and immediate outcome of children hospitalized with ADEM is scarce in the available literature. OBJECTIVES: We aimed to study the clinical profile of children with ADEM and to look for prognostic factors for outcome at discharge from hospital METHODS: We chose a retrospective cohort study of all children diagnosed with ADEM at our institution between January 2006 and December 2015, and they were evaluated, after excluding other diagnoses when they were summoned for a follow up visit...
November 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29141672/a-novel-git2-braf-fusion-in-pilocytic-astrocytoma
#15
Jeffrey Helgager, Hart G Lidov, Navin R Mahadevan, Mark W Kieran, Keith L Ligon, Sanda Alexandrescu
BACKGROUND: KIAA1549-BRAF fusion is the most common genetic event in pilocytic astrocytoma (PA), and leads to activation of the mitogen activated protein kinase (MAPK) signaling pathway. Fusions of BRAF with other partner genes, as well as other genetic alterations not involving BRAF but also leading to MAPK pathway activation have been described rarely. CASE PRESENTATION: We present a new fusion partner in the low-grade glioma of a 10-year-old male, who presented with headaches and recent episodes of seizures...
November 15, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/29141595/eeg-dynamical-correlates-of-focal-and-diffuse-causes-of-coma
#16
MohammadMehdi Kafashan, Shoko Ryu, Mitchell J Hargis, Osvaldo Laurido-Soto, Debra E Roberts, Akshay Thontakudi, Lawrence Eisenman, Terrance T Kummer, ShiNung Ching
BACKGROUND: Rapidly determining the causes of a depressed level of consciousness (DLOC) including coma is a common clinical challenge. Quantitative analysis of the electroencephalogram (EEG) has the potential to improve DLOC assessment by providing readily deployable, temporally detailed characterization of brain activity in such patients. While used commonly for seizure detection, EEG-based assessment of DLOC etiology is less well-established. As a first step towards etiological diagnosis, we sought to distinguish focal and diffuse causes of DLOC through assessment of temporal dynamics within EEG signals...
November 15, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#17
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29141532/seizures-and-antiepileptic-drugs-from-pathophysiology-to-clinical-practice
#18
Nihan CarCaka, Cigdem Ozkara
Recurrent, spontaneous seizure activity caused by abnormal neuronal firing in the brain is a hallmark of epilepsy, a common chronic neurological disorder. Recent research that has expanded the knowledge of the cellular and molecular mechanisms that modulate neuronal excitability and network activity in the brain provides the development and discovery of antiepileptic drugs (AEDs). AED therapy starts with the selection of the most appropriate drug for individual patient on the basis of strategic decision of the risk-benefit ratio...
November 14, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29141323/-a-systematic-review-of-seizure-risk-and-efficacy-of-methylphenida-tetreatment-on-epilepsy-combined-with-attention-deficit-hyperactivity-disorder
#19
C Yang, H Z Zhou, S H Wang
No abstract text is available yet for this article.
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#20
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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