keyword
MENU ▼
Read by QxMD icon Read
search

absence epilepsy

keyword
https://www.readbyqxmd.com/read/29033892/molecular-diagnosis-of-myoclonus-epilepsy-associated-with-ragged-red-fibers-syndrome-in-the-absence-of-ragged-red-fibers
#1
Sun Yeong Park, Se Hoon Kim, Young-Mock Lee
Myoclonus epilepsy with ragged-red fibers (MERRFs), an inherited mitochondrial disorder, has characteristic morphological changes of ragged-red fibers (RRFs) in muscle biopsy, in the absence of which mitochondrial etiology is usually not considered in patients with phenotypes suggestive of MERRF. In these circumstances, MERRF can only be diagnosed using genetic analyses. The symptoms, pathological findings, and imaging results being age dependent, we can construct a protocol based on these characteristics to understand the disease's natural course and to manage patients more effectively...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29018634/detection-of-paroxysms-in-long-term-single-channel-eeg-monitoring-of-patients-with-typical-absence-seizures
#2
Troels W Kjaer, Helge B D Sorensen, Sabine Groenborg, Charlotte R Pedersen, Jonas Duun-Henriksen
Absence seizures are associated with generalized 2.5-5 Hz spike-wave discharges in the electroencephalogram (EEG). Rarely are patients, parents, or physicians aware of the duration or incidence of seizures. Six patients were monitored with a portable EEG-device over four times 24 h to evaluate how easily outpatients are monitored and how well an automatic seizure detection algorithm can identify the absences. Based on patient-specific modeling, we achieved a sensitivity of 98.4% with only 0.23 false detections per hour...
2017: IEEE Journal of Translational Engineering in Health and Medicine
https://www.readbyqxmd.com/read/28992996/attention-profiles-in-childhood-absence-epilepsy-compared-with-attention-deficit-hyperactivity-disorder
#3
Hyun-Jeong Lee, Eun-Hee Kim, Mi-Sun Yum, Tae-Sung Ko, Hyo-Won Kim
OBJECTIVE: This study aimed to compare the attention profiles of subjects with childhood absence epilepsy (CAE) to those of children with attention-deficit/hyperactivity disorder (ADHD) and controls. METHOD: We retrospectively reviewed the medical records of 20 children (age 7.2 ± 1.6 years, 5 boys) in whom CAE was diagnosed at the Department of Pediatric Neurology of Asan Medical Center, Seoul, Korea. ADHD and control subjects were selected from children who visited the Department of Pediatric Psychiatry and were confirmed as having or not having ADHD based on Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) and the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version (K-SADS-PL)...
October 6, 2017: Brain & Development
https://www.readbyqxmd.com/read/28983902/intractable-seizures-after-a-lengthy-remission-in-childhood-onset-epilepsy
#4
Peter R Camfield, Carol S Camfield
OBJECTIVES: To establish the risk of subsequent intractable epilepsy after ≥2, ≥5, and ≥10 years of remission in childhood-onset epilepsy. METHODS: From the Nova Scotia childhood-onset epilepsy population-based cohort patients with all types of epilepsy were selected with ≥20 years follow-up from seizure onset (incidence cases). Children with childhood absence epilepsy were excluded. The rate of subsequent intractable epilepsy was then studied for patients with ≥5 years remission on or off AED treatment and compared with the rate for those with ≥2 and ≥10 years of remission...
October 6, 2017: Epilepsia
https://www.readbyqxmd.com/read/28982069/evaluation-of-brivaracetam-efficacy-as-monotherapy-in-adult-patients-with-focal-seizures
#5
Rik Schoemaker, Janet R Wade, Joseph D'Souza, Armel Stockis
Brivaracetam is a selective, high-affinity ligand for synaptic vesicle protein 2A, recently approved as adjunctive therapy in the treatment of focal (partial-onset) seizures in patients 16 years of age and older with epilepsy. The goal of the present analysis was to determine if the dose-response of brivaracetam as monotherapy would fall within the range associated with brivaracetam efficacy as adjunctive therapy. An existing brivaracetam population pharmacokinetic model consisting of first-order absorption, single compartment distribution, and first-order elimination components was extended by estimating the clearance changes due to co-administration of 12 widely prescribed AEDs...
September 20, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28972156/preferential-association-with-clc-3-permits-sorting-of-clc-4-into-endosomal-compartments
#6
Raul E Guzman, Stefanie Bungert-Plümke, Arne Franzen, Christoph Fahlke
ClC-4 is an intracellular Cl(-)-H(+) exchanger, which is highly expressed in the brain and whose dysfunction has been linked to intellectual disability and epilepsy. We here studied the subcellular localization of human ClC-4 in heterologous expression systems. ClC-4 is retained in the endoplasmic reticulum (ER) upon overexpression in HEK293T cells. Co-expression with distinct ClC-3 splice variants targets ClC-4 to late endosome/lysosomes (ClC-3a and ClC-3b), recycling endosome (ClC-3c) or to the Golgi (ClC-3e)...
September 26, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28963809/psychiatric-comorbidities-and-use-of-psychotropic-medications-in-people-with-autism-spectrum-disorder-in-the-united-states
#7
Richard Houghton, Rose C Ong, Federico Bolognani
This study investigated psychotropic medication usage in two large, cohorts of people with autism spectrum disorder (ASD) throughout the calendar year 2014. The cohorts referred to individuals with commercial (employer-sponsored) and Medicaid insurance in the United States. We aimed to understand prescribing patterns of such medications across a wide age-range and in the presence/absence of other clinical and non-clinical characteristics, including psychiatric comorbidities. We described the prevalence and length of prescriptions by age, psychiatric comorbidity and overall...
September 30, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28959217/attention-contributes-to-arithmetic-deficits-in-new-onset-childhood-absence-epilepsy
#8
Dazhi Cheng, Xiuxian Yan, Zhijie Gao, Keming Xu, Qian Chen
Neuropsychological studies indicate that new-onset childhood absence epilepsy (CAE) is associated with deficits in attention and executive functioning. However, the contribution of these deficits to impaired academic performance remains unclear. We aimed to examine whether attention and executive functioning deficits account for the academic difficulties prevalent in patients with new-onset CAE. We analyzed cognitive performance in several domains, including language, mathematics, psychomotor speed, spatial ability, memory, general intelligence, attention, and executive functioning, in 35 children with new-onset CAE and 33 control participants...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28948142/lacosamide-for-refractory-generalized-tonic-clonic-seizures-of-non-focal-origin-in-clinical-practice-a-clinical-and-veeg-study
#9
Belén Abarrategui, María Eugenia García-García, Rafael Toledano, Beatriz Parejo-Carbonell, Antonio Gil-Nagel, Irene García-Morales
•7 of 9 patients with GGE reduced ≥ 50% their tonic-clonic seizure frequency on LCM.•All 7 patients remained seizure free for > 1 year, and 2 of them for > 5 years.•In 2 of the 9 patients, both with Juvenile Absence Epilepsy, absences aggravated.•One aggravation consisted on a myoclonia and absence status, in a patient with no history of myoclonia.•VEEG paralleled clinical improvement but didn't change in a case of absence worsening.
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28944233/protein-structure-and-phenotypic-analysis-of-pathogenic-and-population-missense-variants-in-stxbp1
#10
Mohnish Suri, Jochem M G Evers, Roman A Laskowski, Sinead O'Brien, Kate Baker, Jill Clayton-Smith, Tabib Dabir, Dragana Josifova, Shelagh Joss, Bronwyn Kerr, Alison Kraus, Meriel McEntagart, Jenny Morton, Audrey Smith, Miranda Splitt, Janet M Thornton, Caroline F Wright
BACKGROUND: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane. Studies have shown that pathogenic loss-of-function variants in this gene result in various types of epilepsies, mostly beginning early in life. We were interested to model pathogenic missense variants on the protein structure to investigate the mechanism of pathogenicity and genotype-phenotype correlations. METHODS: We report 11 patients with pathogenic de novo mutations in STXBP1 identified in the first 4293 trios of the Deciphering Developmental Disorder (DDD) study, including six missense variants...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28934527/proton-mr-spectroscopy-in-patients-with-sleep-related-hypermotor-epilepsy-she-evidence-of-altered-cingulate-cortex-metabolism
#11
Ilaria Naldi, Francesca Bisulli, Claudia Testa, Giovanni Rizzo, Lorenzo Ferri, Laura L Gramegna, Laura Licchetta, Raffaele Lodi, Caterina Tonon, Paolo Tinuper
Study Objectives: To identify structural and/or metabolic alterations in patients with sleep-related hypermotor epilepsy (SHE) using magnetic resonance imaging (MRI) and proton MR spectroscopy (1H-MRS). Methods: Nineteen SHE patients (seven males; 34.7 ± 9.7 years, mean age ± standard deviation) and 17 matched healthy volunteers (seven males; 34.0 ± 8.9 years) were included in the study. In all patients, the diagnosis of SHE was confirmed by video-polysomnographic recording of seizures...
September 1, 2017: Sleep
https://www.readbyqxmd.com/read/28931825/disrupted-topological-organization-of-structural-brain-networks-in-childhood-absence-epilepsy
#12
Wenchao Qiu, Chuanyong Yu, Yuan Gao, Ailiang Miao, Lu Tang, Shuyang Huang, Wenwen Jiang, Jintao Sun, Jing Xiang, Xiaoshan Wang
Childhood absence epilepsy (CAE) is the most common paediatric epilepsy syndrome and is characterized by frequent and transient impairment of consciousness. In this study, we explored structural brain network alterations in CAE and their association with clinical characteristics. A whole-brain structural network was constructed for each participant based on diffusion-weighted MRI and probabilistic tractography. The topological metrics were then evaluated. For the first time, we uncovered modular topology in CAE patients that was similar to healthy controls...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28931473/psychiatric-and-behavioral-side-effects-of-antiepileptic-drugs-in-adults-with-epilepsy
#13
Baibing Chen, Hyunmi Choi, Lawrence J Hirsch, Austen Katz, Alexander Legge, Richard Buchsbaum, Kamil Detyniecki
PURPOSE: Psychiatric and behavioral side effects (PBSEs) are common, undesirable effects associated with antiepileptic drug (AED) use. The objective of the study was to compare the PBSE profiles of older and newer AEDs in a large specialty practice-based sample of patients diagnosed with epilepsy. METHODS: As part of the Columbia and Yale AED Database Project, we reviewed patient records including demographics, medical history, AED use, and side effects for 4085 adult patients (age: 18 years) newly started on an AED regimen...
September 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28924745/hypertonia-linked-protein-trak1-functions-with-mitofusins-to-promote-mitochondrial-tethering-and-fusion
#14
Crystal A Lee, Lih-Shen Chin, Lian Li
Hypertonia is a neurological dysfunction associated with a number of central nervous system disorders, including cerebral palsy, Parkinson's disease, dystonia, and epilepsy. Genetic studies have identified a homozygous truncation mutation in Trak1 that causes hypertonia in mice. Moreover, elevated Trak1 protein expression is associated with several types of cancers and variants in Trak1 are linked to childhood absence epilepsy in humans. Despite the importance of Trak1 in health and disease, the mechanisms of Trak1 action remain unclear and the pathogenic effects of Trak1 mutation are unknown...
September 18, 2017: Protein & Cell
https://www.readbyqxmd.com/read/28922856/building-up-absence-seizures-in-the-somatosensory-cortex-from-network-to-cellular-epileptogenic-processes
#15
Guillaume Jarre, Tristan Altwegg-Boussac, Mark S Williams, Florian Studer, Mathilde Chipaux, Olivier David, Stéphane Charpier, Antoine Depaulis, Séverine Mahon, Isabelle Guillemain
The epileptogenic processes leading to recurrent seizures in Genetic Epilepsies are largely unknown. Using the Genetic Absence Epilepsy Rat from Strasbourg, we investigated in vivo the network and single neuron mechanisms responsible for the early emergence of epileptic activity. Local field potential recordings in the primary somatosensory cortex (SoCx), from the second post-natal week to adulthood, showed that immature cortical discharges progressively evolved into typical spike-and-wave discharges following a 3-step maturation process...
September 1, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28922360/comparison-of-background-eeg-activity-of-different-groups-of-patients-with-idiopathic-epilepsy-using-shannon-spectral-entropy-and-cluster-based-permutation-statistical-testing
#16
Jose Antonio Urigüen, Begoña García-Zapirain, Julio Artieda, Jorge Iriarte, Miguel Valencia
Idiopathic epilepsy is characterized by generalized seizures with no apparent cause. One of its main problems is the lack of biomarkers to monitor the evolution of patients. The only tools they can use are limited to inspecting the amount of seizures during previous periods of time and assessing the existence of interictal discharges. As a result, there is a need for improving the tools to assist the diagnosis and follow up of these patients. The goal of the present study is to compare and find a way to differentiate between two groups of patients suffering from idiopathic epilepsy, one group that could be followed-up by means of specific electroencephalographic (EEG) signatures (intercritical activity present), and another one that could not due to the absence of these markers...
2017: PloS One
https://www.readbyqxmd.com/read/28921161/deep-brain-stimulation-for-refractory-temporal-lobe-epilepsy-a-systematic-review-and-meta-analysis-with-an-emphasis-on-alleviation-of-seizure-frequency-outcome
#17
Bowen Chang, Jiwen Xu
OBJECTIVE: Conflicting conclusions have been reported regarding predictors of deep brain stimulation (DBS) outcome in patients with refractory temporal lobe epilepsy (TLE). The main goal of this meta-analysis study was to identify possible predictors of remarkable seizure reduction (RSR). METHODS: We conducted a comprehensive search of English-language literature published since 1990 and indexed in PubMed, Embase, and the Cochrane Library that addressed seizure outcomes in patients who underwent DBS for refractory TLE...
September 18, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28918332/control-of-absence-epilepsy-seizures-in-specific-relay-nuclei-of-thalamus
#18
Bing Hu, Xiaoqiang Zou, Yu Guo, Zhejia Yang, Feng Shi, Wangyuan Dong
In this paper, we used a classic basal ganglia-corticothalamic model(BGCT) to study the onset and control mechanism of absence epilepsy in specific relay nuclei (SRN) of thalamus. It was found that the seizure state may appear in SRN by turning the coupling strength -vsr and signal transmission delay τ on the route "Thalamic reticular nuclei (TRN) of thalamus ⟶ SRN". With increasing of -vsr, the seizure state appeared two times, and its onset mechanism has not been discussed in previous studies. The seizure activity can be well controlled by adjusting the activation level of the substantia nigra pars reticulata (SNr) in basal ganglia, which is a main output tissue to the corticothalamic system through two direct inhibitory pathways "SNr ⟶ SRN" and "SNr ⟶ TRN" in our model...
December 21, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/28916534/pretreatment-behavior-and-subsequent-medication-effects-in-childhood-absence-epilepsy
#19
Ruth C Shinnar, Shlomo Shinnar, Avital Cnaan, Peggy Clark, Dennis Dlugos, Deborah G Hirtz, Fengming Hu, Chunyan Liu, David Masur, Erica F Weiss, Tracy A Glauser
OBJECTIVE: To characterize pretreatment behavioral problems and differential effects of initial therapy in children with childhood absence epilepsy (CAE). METHODS: The Child Behavior Checklist (CBCL) was administered at baseline, week 16-20, and month 12 visits of a randomized double-blind trial of ethosuximide, lamotrigine, and valproate. Total problems score was the primary outcome measure. RESULTS: A total of 382 participants at baseline, 310 participants at the week 16-20 visit, and 168 participants at the month 12 visit had CBCL data...
October 17, 2017: Neurology
https://www.readbyqxmd.com/read/28913875/alterations-in-the-%C3%AE-2-%C3%AE-ligand-thrombospondin-1-in-a-rat-model-of-spontaneous-absence-epilepsy-and-in-patients-with-idiopathic-genetic-generalized-epilepsies
#20
Ines Santolini, Roberta Celli, Milena Cannella, Tiziana Imbriglio, Michela Guiducci, Pasquale Parisi, Julian Schubert, Michele Iacomino, Federico Zara, Holger Lerche, Slavianka Moyanova, Richard Teke Ngomba, Gilles van Luijtelaar, Giuseppe Battaglia, Valeria Bruno, Pasquale Striano, Ferdinando Nicoletti
OBJECTIVES: Thrombospondins, which are known to interact with the α2 δ subunit of voltage-sensitive calcium channels to stimulate the formation of excitatory synapses, have recently been implicated in the process of epileptogenesis. No studies have been so far performed on thrombospondins in models of absence epilepsy. We examined whether expression of the gene encoding for thrombospondin-1 was altered in the brain of WAG/Rij rats, which model absence epilepsy in humans. In addition, we examined the frequency of genetic variants of THBS1 in a large cohort of children affected by idiopathic/genetic generalized epilepsies (IGE/GGEs)...
September 15, 2017: Epilepsia
keyword
keyword
90899
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"