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https://www.readbyqxmd.com/read/28437535/clinical-aspects-of-glucose-transporter-type-1-deficiency-information-from-a-global-registry
#1
Jian Hao, Dorothy I Kelly, Jianzhong Su, Juan M Pascual
Importance: Case reports regularly document unique or unusual aspects of glucose transporter type 1 deficiency (G1D). In contrast, population studies from which to draw global inferences are lacking. Twenty-five years after the earliest case reports, this deficiency still particularly affects treatment and prognostic counseling. Objective: To examine the most common features of G1D. Design, Setting, and Participants: In this study, data were collected electronically from 181 patients with G1D through a web-based, worldwide patient registry from December 1, 2013, through December 1, 2016...
April 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28434139/neurological-manifestations-of-atypical-celiac-disease-in-childhood
#2
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/28431291/temporal-pole-abnormalities-detected-by-3-t-mri-in-temporal-lobe-epilepsy-due-to-hippocampal-sclerosis-no-influence-on-seizure-outcome-after-surgery
#3
Sara Casciato, Angelo Picardi, Alfredo D'Aniello, Marco De Risi, Giovanni Grillea, Pier Paolo Quarato, Addolorata Mascia, Liliana G Grammaldo, Giulio Nicolo' Meldolesi, Roberta Morace, Vincenzo Esposito, Giancarlo Di Gennaro
PURPOSE: To assess the clinical significance of temporal pole abnormalities (temporopolar blurring, TB, and temporopolar atrophy, TA) detected by using 3 Tesla MRI in the preoperative workup in patients with temporal lobe epilepsy due to hippocampal sclerosis (TLE-HS) who underwent surgery. METHODS: We studied 78 consecutive patients with TLE-HS who underwent surgery and were followed up for at least 2 years. Based on findings of pre-surgical 3 Tesla MRI, patients were subdivided in subgroups according to the presence of TB or TA...
April 12, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28429368/-aralar-agc1-deficiency-a-neurodevelopmental-disorder-with-severe-impairment-of-neuronal-mitochondrial-respiration-does-not-produce-a-primary-increase-in-brain-lactate
#4
Inés Juaristi, María L García-Martin, Tiago B Rodrigues, Jorgina Satrústegui, Irene Llorente-Folch, Beatriz Pardo
ARALAR/AGC1 (aspartate-glutamate mitochondrial carrier 1) is an important component of the NADH malate-aspartate shuttle (MAS). AGC1-deficiency is a rare disease causing global cerebral hypomyelination, developmental arrest, hypotonia, and epilepsy (OMIM ID #612949); the aralar-KO mouse recapitulates the major findings in humans. This study was aimed at understanding the impact of ARALAR-deficiency in brain lactate levels as a biomarker. We report that lactate was equally abundant in wild-type and aralar-KO mouse brain in vivo at PND 17...
April 21, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28425015/the-new-classification-of-seizures-by-the-international-league-against-epilepsy-2017
#5
REVIEW
Robert S Fisher
PURPOSE OF REVIEW: This review presents the newly developed International League Against Epilepsy (ILAE) 2017 classification of seizure types. RECENT FINDINGS: The fundamental distinction is between seizures that begin focally in one hemisphere of the brain, generalized onset seizures that apparently originate in both hemispheres, and seizures of unknown onset. Focal seizures optionally can be subclassified according to whether awareness (a surrogate marker for consciousness) is intact or impaired...
June 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28419948/genetic-generalized-epilepsy-in-three-siblings-with-8q21-13-q22-2-duplication
#6
Arezoo Rezazadeh, Felippe Borlot, Hanna Faghfoury, Danielle M Andrade
PURPOSE: Duplication of chromosome region 8q21-q22 is a rare copy number variant that has been previously reported in a limited number of patients. Although some of these patients had seizures, their electroclinical syndrome has not been described in detail. The aim of this study was to provide further insight into the specific epilepsy syndrome associated with 8q21.13-q22.2 duplication. METHOD: We describe 3 siblings with trisomy of 8q21.13-q22.2 who exhibited intellectual disability, facial dysmorphism and seizures...
April 11, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28417072/atypical-juvenile-presentation-of-gm2-gangliosidosis-ab-in-a-patient-compound-heterozygote-for-c-259g%C3%A2-%C3%A2-t-and-c-164c%C3%A2-%C3%A2-t-mutations-in-the-gm2a-gene
#7
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R Morales, Grant A Mitchell, Alexey V Pshezhetsky
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28413780/generalized-epilepsy-in-baraitser-winter-cerebrofrontofacial-syndrome
#8
Seth Andrew Climans, Seyed M Mirsattari
•Baraitser-Winter cerebrofrontofacial syndrome (BWMS) is caused by actin gene mutations.•Key features of BWMS are ptosis, hypertelorism, iris colobomata, and mental retardation.•Generalized epilepsy is seen in half of those with BWMS.•Seizures in BWMS can be absence, myoclonic, tonic, or tonic-clonic.
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28404805/mutant-idh1-and-seizures-in-patients-with-glioma
#9
Hao Chen, Jonathon Judkins, Cheddhi Thomas, Meijing Wu, Laith Khoury, Carolina G Benjamin, Donato Pacione, John G Golfinos, Priya Kumthekar, Farhad Ghamsari, Li Chen, Pamela Lein, Dane M Chetkovich, Matija Snuderl, Craig Horbinski
OBJECTIVE: Because the d-2-hydroxyglutarate (D2HG) product of mutant isocitrate dehydrogenase 1 (IDH1(mut)) is released by tumor cells into the microenvironment and is structurally similar to the excitatory neurotransmitter glutamate, we sought to determine whether IDH1(mut) increases the risk of seizures in patients with glioma, and whether D2HG increases the electrical activity of neurons. METHODS: Three WHO grade II-IV glioma cohorts from separate institutions (total N = 712) were retrospectively assessed for the presence of preoperative seizures and tumor location, WHO grade, 1p/19q codeletion, and IDH1(mut) status...
April 12, 2017: Neurology
https://www.readbyqxmd.com/read/28397652/-scientific-evidence-on-treatment-and-prognosis-of-childhood-absence-epilepsy
#10
Joakim Bloch, Maria J Miranda
Until now, ethosuximide (ESM), sodium valproate (VPA) and lamotrigine have been considered the drugs of choice in the management of childhood absence epilepsy, and there has been no high-validated evidence to distinguish their effects. New research shows, however, that while VPA and ESM are equally effective, ESM is the best tolerated of the two drugs, when considering cognitive adverse effects. This is of major importance, as cognitive comorbidities can be dire in childhood absence epilepsy, possibly affecting the psychosocial prognosis of the patients...
March 27, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28391029/decrease-of-global-current-source-density-predicts-successful-treatment-in-absence-and-juvenile-myoclonic-epilepsies
#11
Johanna Dömötör, Béla Clemens, Szilvia Puskás, István Fekete
OBJECTIVE: To investigate relationship between treatment efficiency and EEG background activity changes in absence epilepsy (AE) and juvenile myoclonic epilepsy (JME) patients. PATIENTS AND METHODS: EEGs of 31 patients were analysed before treatment and after six months of treatment. Three minutes of artifact-free waking EEG background activity (without epileptiform potentials) were analysed for each patient in both conditions. All the EEG samples were processed to LORETA (Low Resolution Electromagnetic Tomography)...
April 2, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28380395/equivocal-significance-of-post-ictal-generalized-eeg-suppression-as-a-marker-of-sudep-risk
#12
Joon Y Kang, Amin H Rabiei, Leslie Myint, Maromi Nei
PURPOSE: Our objective was to determine the significance of PGES as a possible EEG marker of increased risk for SUDEP and explore factors that influence PGES. METHODS: We identified 17 patients who died due to definite or probable SUDEP and 52 living control patients with drug resistant focal epilepsy who underwent EEG monitoring and least one seizure recorded on EEG. We reviewed 305 seizures on EEG and when available, on video, for presence or absence of PGES, the duration of PGES immediately after seizure end, seizure type, state seizure occurred (sleep vs...
March 27, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28376856/the-causal-relationship-between-neurocysticercosis-infection-and-the-development-of-epilepsy-a-systematic-review
#13
REVIEW
Lucy B Gripper, Susan C Welburn
BACKGROUND: Neurocysticercosis (NCC) is a parasitic infection of the human central nervous system, the most common form of which involves infection of the brain parenchyma with the larval form of the Taenia solium tapeworm. A causal relationship between such an NCC infection and the development of epilepsy in infected individuals is acknowledged, in part supported by high levels of comorbidity in endemic countries worldwide. METHODS: This study undertook a systematic review and critical analysis of the NCC-epilepsy relationship with the primary objective of quantifying the risk of developing epilepsy following NCC infection...
April 5, 2017: Infectious Diseases of Poverty
https://www.readbyqxmd.com/read/28369834/an-examination-of-biochemical-parameters-and-their-association-with-response-to-ketogenic-dietary-therapies
#14
Natasha E Schoeler, Gail Bell, Alan Yuen, Adam D Kapelner, Simon J R Heales, J Helen Cross, Sanjay Sisodiya
OBJECTIVE: In the absence of specific metabolic disorders, accurate predictors of response to ketogenic dietary therapies (KDTs) for treating epilepsy are largely unknown. We hypothesized that specific biochemical parameters would be associated with the effectiveness of KDT in humans with epilepsy. The parameters tested were β-hydroxybutyrate, acetoacetate, nonesterified fatty acids, free and acylcarnitine profile, glucose, and glucose-ketone index (GKI). METHODS: Biochemical results from routine blood tests conducted at baseline prior to initiation of KDT and at 3-month follow-up were obtained from 13 adults and 215 children with KDT response data from participating centers...
April 3, 2017: Epilepsia
https://www.readbyqxmd.com/read/28366625/proximal-upper-limb-jerking-important-clinical-sign-to-diagnose-epilepsy-with-myoclonic-absences
#15
Rajesh Shankar Iyer
No abstract text is available yet for this article.
March 9, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28364455/cntnap2-knockout-rats-and-mice-exhibit-epileptiform-activity-and-abnormal-sleep-wake-physiology
#16
Alexia M Thomas, Michael D Schwartz, Michael D Saxe, Thomas S Kilduff
Study Objectives: Although recent innovations have enabled modification of the rat genome, it is unclear whether enhanced utility of rodents as human disease models will result. We compared electroencephalogram (EEG) and behavioral phenotypes of rats and mice with homozygous deletion of Cntnap2, a gene associated with cortical dysplasia-focal epilepsy (CDFE) and autism spectrum disorders (ASD). Methods: Male contactin-associated protein-like 2 (Cntnap2) knockout (KO) and wild-type (WT) rats and male Cntnap2 KO and WT mice were implanted with telemeters to record EEG, electromyogram, body temperature, and locomotor activity...
January 1, 2017: Sleep
https://www.readbyqxmd.com/read/28351825/control-groups-in-paediatric-epilepsy-research-do-first-degree-cousins-show-familial-effects
#17
Melissa Hanson, Blaise Morrison, Jana E Jones, Daren C Jackson, Dace Almane, Michael Seidenberg, Qianqian Zhao, Paul J Rathouz, Bruce P Hermann
To determine whether first-degree cousins of children with idiopathic focal and genetic generalized epilepsies show any association across measures of cognition, behaviour, and brain structure. The presence/absence of associations addresses the question of whether and to what extent first-degree cousins may serve as unbiased controls in research addressing the cognitive, psychiatric, and neuroimaging features of paediatric epilepsies. Participants were children (aged 8-18) with epilepsy who had at least one first-degree cousin control enrolled in the study (n=37) and all enrolled cousin controls (n=100)...
March 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28347601/scoliosis-in-rett-syndrome-progression-comorbidities-and-predictors
#18
John T Killian, Jane B Lane, Hye-Seung Lee, Steve A Skinner, Walter E Kaufmann, Daniel G Glaze, Jeffrey L Neul, Alan K Percy
BACKGROUND: Scoliosis is prominent in Rett syndrome (RTT). Following the prior report from the US Natural History Study, the onset and progression of severe scoliosis (≥40° Cobb angle) and surgery were examined regarding functional capabilities and specific genotypes, addressing the hypothesis that abnormal muscle tone, poor oral feeding, puberty, and delays or absence of sitting balance and ambulation may be responsible for greater risk in RTT. METHODS: The multicenter RTT Natural History Study gathered longitudinal data for classic RTT, including mutation type, scoliosis, muscle tone, sitting, ambulation, hand function, and feeding...
February 7, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28343465/academic-outcomes-in-individuals-with-childhood-onset-epilepsy-mediating-effects-of-working-memory
#19
Ashley N Danguecan, Mary Lou Smith
OBJECTIVES: Academic difficulties are common in children with epilepsy, although little is known about the effect of various seizure-related and cognitive variables. Given that persistent seizures may negatively impact academics, and that working memory is predictive of academic abilities, we examined the effects of recent seizures and working memory on word reading, spelling, and arithmetic in pediatric epilepsy. We hypothesized that persistent seizures would be associated with lower working memory ability, which would in turn result in poorer academic performance...
March 27, 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28332703/predictors-of-meaningful-improvement-in-quality-of-life-after-temporal-lobe-epilepsy-surgery-a-prospective-study
#20
Carla Pauli, Marcelo Liborio Schwarzbold, Alexandre Paim Diaz, Maria Emilia Rodrigues de Oliveira Thais, Charles Kondageski, Marcelo Neves Linhares, Ricardo Guarnieri, Bianca de Lemos Zingano, Juliana Ben, Jean Costa Nunes, Hans Joachim Markowitsch, Peter Wolf, Samuel Wiebe, Katia Lin, Roger Walz
OBJECTIVES: To investigate prospectively the independent predictors of a minimum clinically important change (MCIC) in quality of life (QOL) after anterior temporal lobectomy (ATL) for drug-resistant mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS) in Brazilian patients. METHODS: Multiple binary logistic regression analysis was performed to identify the clinical, demographic, radiologic, and electrophysiologic variables independently associated with MCIC in the Quality of Life in Epilepsy-31 Inventory (QOLIE-31) overall score 1 year after ATL in 77 consecutive patients with unilateral MTLE-HS...
March 23, 2017: Epilepsia
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