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https://www.readbyqxmd.com/read/28230254/resistance-to-valproic-acid-as-predictor-of-treatment-resistance-in-genetic-generalized-epilepsies
#1
Joanna Gesche, Marina Khanevski, Carl Solberg, Christoph Patrick Beier
This study aimed at defining clinical predictors of drug resistance in adults with genetic generalized epilepsy (GGE) who were treated with a broad spectrum of antiepileptic drugs. Of a cohort of 137 unselected adult GGE patients with long-term follow up, clinical and demographic data, putative prognostic factors (e.g., psychiatric comorbidities, electroencephalography [EEG]), treatment response, and data indicative of social status were collected. Fifty-eight patients had seizures within the past year. Thirty-three patients met the definition of "drug-resistant epilepsy" according to the International League Against Epilepsy (ILAE) definition...
February 23, 2017: Epilepsia
https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#2
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
February 22, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28227104/source-and-sink-nodes-in-absence-seizures
#3
Abner C Rodrigues, Birajara S Machado, Luis Otavio S F Caboclo, Andre Fujita, Luiz A Baccaia, Koichi Sameshima, Abner C Rodrigues, Birajara S Machado, Luis Otavio S F Caboclo, Andre Fujita, Luiz A Baccala, Koichi Sameshima, Luiz A Baccala, Biraiara S Machado, Luis Otavio S F Caboclo
As opposed to focal epilepsy, absence seizures do not exhibit a clear seizure onset zone or focus since its ictal activity rapidly engages both brain hemispheres. Yet recent graph theoretical analysis applied to absence seizures EEG suggests the cortical focal presence, an unexpected feature for this type of epilepsy. In this study, we explore the characteristics of absence seizure by classifying the nodes as to their source/sink natures via weighted directed graph analysis based on connectivity direction and strength estimation using information partial directed coherence (iPDC)...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28220891/nmda-receptor-expression-in-the-thalamus-of-the-stargazer-model-of-absence-epilepsy
#4
Z Barad, D R Grattan, B Leitch
In the stargazer mouse model of absence epilepsy, altered corticothalamic excitation of reticular thalamic nucleus (RTN) neurons has been suggested to contribute to abnormal synchronicity in the corticothalamic-thalamocortical circuit, leading to spike-wave discharges, the hallmark of absence seizures. AMPA receptor expression and function are decreased in stargazer RTN, due to a mutation of AMPAR auxiliary subunit stargazin. It is unresolved and debated, however, if decreased excitation of RTN is compatible with epileptogenesis...
February 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28216336/pathophysiology-of-absence-epilepsy-insights-from-genetic-models
#5
REVIEW
Antoine Depaulis, Stéphane Charpier
Absence Epilepsy (AE) is a prototypic epileptic syndrome that develops during brain maturation but cannot be fully explored in human patients. Genetic animal models, especially rats with spike-and-wave discharges recorded on the electroencephalogram, the hallmark of absence seizures, offer strong face validity with the human pathology that allows precise exploration of the pathophysiology of this form of epilepsy. Using an array of different methods, recent studies have demonstrated that spike-and-wave discharges are initiated in the primary somatosensory cortex and then rapidly propagate to motor cortices and thalamic nuclei...
February 16, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28215998/photosensitivity-in-generalized-epilepsies
#6
REVIEW
Shervonne Poleon, Jerzy P Szaflarski
Photosensitivity, which is the hallmark of photosensitive epilepsy (PSE), is described as an abnormal EEG response to visual stimuli known as a photoparoxysmal response (PPR). The PPR is a well-recognized phenomenon, occurring in 2-14% of patients with epilepsy but its pathophysiology is not clearly understood. PPR is electrographically described as 2-5Hz spike, spike-wave, or slow wave complexes with frontal and paracentral prevalence. Diagnosis of PPR is confirmed using intermittent photic stimulation (IPS) as well as video monitoring...
February 16, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28214777/utility-of-long-term-video-eeg-monitoring-for-children-with-staring
#7
Anup D Patel, Babitha Haridas, Zachary M Grinspan, Jack Stevens
OBJECTIVE: Staring spells are a common reason for referral to overnight epilepsy monitoring unit (EMU) evaluation. However, inpatient EMU admissions are expensive and time consuming. This study determined what percentage of those referred for staring had a confirmed epileptic seizure on long-term video-EEG monitoring (LTM) and developed a scoring system to help prioritize which patients should undergo this procedure. METHODS: We performed a four-year retrospective chart review of all children at a tertiary pediatric hospital who received LTM (long-term monitoring) for the purposes of characterizing staring...
February 16, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28211317/primary-human-cytomegalovirus-hcmv-infection-in-pregnancy
#8
Horst Buxmann, Klaus Hamprecht, Matthias Meyer-Wittkopf, Klaus Friese
BACKGROUND: In 0.5-4% of pregnancies, the prospective mother sustains a primary infection with human cytomegalovirus (HCMV). An HCMV infection of the fetus in the first or second trimester can cause complex post-encephalitic impairment of the infant brain, leading to motor and mental retardation, cerebral palsy, epilepsy, retinal defects, and progressive hearing loss. METHODS: This review is based on pertinent publications from January 2000 to October 2016 that were retrieved by a selective search in PubMed employing the terms "cytomegalovirus and pregnancy" and "congenital cytomegalovirus...
January 27, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28210849/developmental-changes-in-notch1-and-nle1-expression-in-a-genetic-model-of-absence-epilepsy
#9
Fariba Karimzadeh, Sayed Mostafa Modarres Mousavi, Fatemeh Alipour, Hassan Hosseini Ravandi, Stjepana Kovac, Ali Gorji
Childhood absence epilepsy (CAE) is an epilepsy syndrome with seizures occurring in the early childhood, highlighting that seizures susceptibility in CAE is dependent on brain development. The Notch 1 signalling pathway is important in brain development, yet the role of the Notch1 signalling pathway in CAE remains elusive. We here explored Notch1 and its modulator notchless homologue 1 (NLE1) expression in WAG/Rij and control rats using immunohistochemistry. Functional Notch 1 effects were assessed in WAG/Rij rats in vivo...
February 16, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28202819/-melas-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes
#10
Hidetomo Murakami, Kenjiro Ono
Mitochondrial disease is caused by a deficiency in the energy supply to cells due to mitochondrial dysfunction. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial disease that presents with stroke-like episodes such as acute onset of neurological deficits and characteristic imaging findings. Stroke-like episodes in MELAS have the following features: 1) neurological deficits due to localization of lesions in the brain, 2) episodes often accompany epilepsy, 3) lesions do not follow the vascular supply area, 4) lesions are more often seen in the posterior brain than in the anterior brain, 5) lesions spread to an adjacent area in the brain, and 6) neurological symptoms often disappear together with imaging findings, but later relapse...
February 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28195639/ethosuximide-sodium-valproate-or-lamotrigine-for-absence-seizures-in-children-and-adolescents
#11
REVIEW
Francesco Brigo, Stanley C Igwe
BACKGROUND: This is an updated version of the original Cochrane review originally published in 2003, Issue 3, and updated in 2005, Issue 4.Absence seizures are brief epileptic seizures which present in childhood and adolescence. Depending on clinical features and electroencephalogram (EEG) findings they are divided into typical, atypical absences, and absences with special features. Typical absences are characterised by sudden loss of awareness and an EEG typically shows generalised spike wave discharges at three cycles per second...
February 14, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28195311/reduced-local-input-to-fast-spiking-interneurons-in-the-somatosensory-cortex-in-the-gabaa-%C3%AE-2-r43q-mouse-model-of-absence-epilepsy
#12
Stephen P Currie, Liliana L Luz, Sam A Booker, David J A Wyllie, Peter C Kind, Michael I Daw
OBJECTIVE: Absence seizures in childhood absence epilepsy are initiated in the thalamocortical (TC) system. We investigated if these seizures result from altered development of the TC system before the appearance of seizures in mice containing a point mutation in γ-aminobutyric acid A (GABAA ) receptor γ2 subunits linked to childhood absence epilepsy (R43Q). Findings from conditional mutant mice indicate that expression of normal γ2 subunits during preseizure ages protect from later seizures...
February 13, 2017: Epilepsia
https://www.readbyqxmd.com/read/28183735/new-insights-into-the-regulatory-function-of-cyfip1-in-the-context-of-wave-and-fmrp-containing-complexes
#13
Sabiha Abekhoukh, H Bahar Sahin, Mauro Grossi, Samantha Zongaro, Thomas Maurin, Irene Madrigal, Daniele Kazue-Sugioka, Annick Raas-Rothschild, Mohamed Doulazmi, Pilar Carrera, Andrea Stachon, Steven Scherer, Maria Rita Drula Do Nascimento, Alain Trembleau, Ignacio Arroyo, Szatmari Peter, Isabel M Smith, Montserrat Milà, Adam C Smith, Angela Giangrande, Isabelle Caillé, Barbara Bardoni
CYtoplasmic FMRP Interacting Protein 1 (CYFIP1) is a candidate gene for intellectual disability (ID), autism, schizophrenia and epilepsy. It is a member of a family of proteins that is very conserved during evolution, sharing high homology with dCYFIP, its Drosophila homolog. CYFIP1 interacts with the Fragile X Mental Retardation Protein (FMRP), whose absence causes the Fragile X Syndrome, and with the translation initiation factor eIF4E. It is a member of the WAVE Regulatory Complex (WRC), thus representing a link between translational regulation and actin cytoskeleton...
February 9, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28181916/4-phenylbutyric-acid-and-metformin-decrease-sensitivity-to-pentylenetetrazol-induced-seizures-in-a-malin-knockout-model-of-lafora-disease
#14
Gentzane Sánchez-Elexpuru, José M Serratosa, Pascual Sanz, Marina P Sánchez
Lafora disease (LD) is a rare adolescent-onset progressive myoclonic epilepsy caused by loss-of-function mutations either in the EPM2A gene encoding laforin or in the EPM2B gene encoding malin. Mouse models with deletion in the Epm2a or the Epm2b gene show intracellular aggregates of polyglucosans (Lafora bodies) and neurological complications that resemble those observed in patients with LD. In the absence of laforin or malin expression, mice also show different degrees of hyperexcitability, as reflected by an enhanced response to the convulsant drug pentylenetetrazol (PTZ)...
February 8, 2017: Neuroreport
https://www.readbyqxmd.com/read/28165634/pharmacogenetics-of-antiepileptic-drug-efficacy-in-childhood-absence-epilepsy
#15
Tracy A Glauser, Katherine Holland, Valerie P O'Brien, Mehdi Keddache, Lisa J Martin, Peggy O Clark, Avital Cnaan, Dennis Dlugos, Deborah G Hirtz, Shlomo Shinnar, Gregory Grabowski
OBJECTIVE: Determine if common polymorphisms in CACNA1G, CACNA1H, CACNA1I, and ABCB1 are associated with differential short term seizure outcome in Childhood Absence Epilepsy (CAE). METHODS: 446 CAE children in a randomized double blind trial of ethosuximide, lamotrigine and valproate had short term seizure outcome determined. Associations between polymorphisms (minor allele frequency ≥15%) in four genes and seizure outcomes were assessed. In vitro electrophysiology on transfected CACNA1H channels determined impact of one variant on T-type calcium channel responsiveness to ethosuximide...
February 6, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28157601/prognostic-factors-in-patients-with-refractory-idiopathic-generalized-epilepsy
#16
A Gomez-Ibañez, R S McLachlan, S M Mirsattari, D C Diosy, J G Burneo
OBJECTIVE: Idiopathic generalized epilepsy (IGE) is an epileptic condition with good response to antiepileptic drugs (AED). Major syndromes are epilepsy with generalized tonic-clonic seizures (GTCS) alone, absence epilepsy and juvenile myoclonic epilepsy. However, clinical practice shows drug-resistant patients. Endpoint is to identify clinical features related with refractoriness in IGE and in its each individual syndrome. METHODS: We retrospectively collected 279 consecutive patients with IGE assessed in the Epilepsy Clinic of our institution...
January 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28156248/long-term-surgical-results-of-supplementary-motor-area-epilepsy-surgery
#17
Mario A Alonso-Vanegas, Daniel San-Juan, Ricardo M Buentello García, Carlos Castillo-Montoya, Horacio Sentíes-Madrid, Erika Brust Mascher, Paul Shkurovick Bialik, Carlos Trenado
OBJECTIVE Supplementary motor area (SMA) epilepsy is a well-known clinical condition; however, long-term surgical outcome reports are scarce and correspond to small series or isolated case reports. The aim of this study is to present the surgical results of SMA epilepsy patients treated at 2 reference centers in Mexico City. METHODS For this retrospective descriptive study (1999-2014), 52 patients underwent lesionectomy and/or corticectomy of the SMA that was guided by electrocorticography (ECoG). The clinical, neurophysiological, neuroimaging, and pathological findings are described...
February 3, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28156216/use-of-an-intraventricular-strip-electrode-for-mesial-temporal-monitoring-in-children-with-medically-intractable-epilepsy
#18
Hyunmi Kim, Ahyuda Oh, Larry Olson, Joshua J Chern
OBJECTIVE The objective of this study was to evaluate mesial temporal electroencephalographic (EEG) monitoring, using an intraventricular strip electrode (IVSE) along the ventricular surface of the hippocampus, in children with medically intractable epilepsy. METHODS The authors reviewed 10 consecutive cases in which subdural electrode placements and mesial temporal monitoring were recommended. The median age of the patients was 12.7 years (range 4.5-19.3 years). Both grids and IVSE were placed in all patients...
February 3, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28135595/genetic-background-contributes-to-the-co-morbidity-of-anxiety-and-depression-with-audiogenic-seizure-propensity-and-responses-to-fluoxetine-treatment
#19
Karine Yu Sarkisova, Irina B Fedotova, Natalia M Surina, Georgy M Nikolaev, Olga V Perepelkina, Zoya A Kostina, Inga I Poletaeva
BACKGROUND: Anxiety and depression are the most frequent comorbidities of different types of convulsive and non-convulsive epilepsies. Increased anxiety and depression-like phenotype have been described in the genetic absence epilepsy models as well as in models of limbic epilepsy and acquired seizure models, suggesting a neurobiological connection. However, whether anxiety and/or depression are comorbid to audiogenic epilepsy remains unclear. The aim of this study was to investigate whether anxiety or depression-like behavior can be found in rat strains with different susceptibility to audiogenic seizures (AS) and whether chronic fluoxetine treatment affects this co-morbidity...
January 26, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28131205/altered-degree-centrality-in-childhood-absence-epilepsy-a-resting-state-fmri-study
#20
Xueyu Wang, Dongmei Jiao, Xinying Zhang, Xiangtao Lin
Modern network studies have suggested that the pathology of many neurological diseases is in fact not equally distributed over the brain but preferentially affects the hub regions. This study aims to investigate how hub regions were affected in Children with Childhood absence epilepsy (CAE) using resting-state fMRI (rs-fMRI). As one important measures obtained from rs-fMRI, degree centrality (DC) calculates the number of direct connections between a given node and the rest of the brain within the entire connectivity matrix of the brain...
February 15, 2017: Journal of the Neurological Sciences
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