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Epilepsia

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https://www.readbyqxmd.com/read/28518218/comparison-and-optimization-of-in-silico-algorithms-for-predicting-the-pathogenicity-of-sodium-channel-variants-in-epilepsy
#1
Katherine D Holland, Thomas M Bouley, Paul S Horn
OBJECTIVE: Variants in neuronal voltage-gated sodium channel α-subunits genes SCN1A, SCN2A, and SCN8A are common in early onset epileptic encephalopathies and other autosomal dominant childhood epilepsy syndromes. However, in clinical practice, missense variants are often classified as variants of uncertain significance when missense variants are identified but heritability cannot be determined. Genetic testing reports often include results of computational tests to estimate pathogenicity and the frequency of that variant in population-based databases...
May 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28500678/bgg492-as-an-adjunctive-treatment-in-patients-with-partial-onset-seizures-a-12-week-randomized-double-blind-placebo-controlled-phase-ii-dose-titration-study-with-an-open-label-extension
#2
Christian E Elger, Seung Bong Hong, Christian Brandt, Linda Mancione, Jackie Han, Christine Strohmaier
OBJECTIVES: To evaluate dose-response relationship of BGG492 as add-on therapy to 1-3 antiepileptic drugs in patients with partial-onset seizures and to investigate safety and tolerability of BGG492. METHODS: This was a 12-week, randomized, double-blind, placebo-controlled, phase II dose-titration study (core study) with a 30-week, flexible-dose, open-label extension. In the core study, patients were randomized (1:2) to placebo or BGG492 100 mg t.i.d. in cohort 1, and in cohort 2 patients were randomized (1:4) to placebo or BGG492 150 mg t...
May 13, 2017: Epilepsia
https://www.readbyqxmd.com/read/28485850/child-and-parent-reported-quality-of-life-trajectories-in-children-with-epilepsy-a-prospective-cohort-study
#3
Mark A Ferro, Lisa Avery, Nora Fayed, David L Streiner, Charles E Cunningham, Michael H Boyle, Lucyna Lach, Gina Glidden, Peter L Rosenbaum, Gabriel M Ronen
OBJECTIVE: To describe the developmental trajectories of quality of life (QoL) in a large cohort of children with epilepsy, and to assess the relative contribution of clinical, psychosocial, and sociodemographic variables on QoL trajectories. METHODS: Five assessments during a 28-month prospective cohort study were used to model trajectories of QoL. Participants were recruited with their parents from six Canadian tertiary centers. A convenience sample of 506 children aged 8-14 years with epilepsy and without intellectual disability or autism spectrum disorder were enrolled...
May 9, 2017: Epilepsia
https://www.readbyqxmd.com/read/28480567/weather-as-a-risk-factor-for-epileptic-seizures-a-case-crossover-study
#4
Florian Rakers, Mario Walther, Rene Schiffner, Sven Rupprecht, Marius Rasche, Michael Kockler, Otto W Witte, Peter Schlattmann, Matthias Schwab
OBJECTIVE: Most epileptic seizures occur unexpectedly and independently of known risk factors. We aimed to evaluate the clinical significance of patients' perception that weather is a risk factor for epileptic seizures. METHODS: Using a hospital-based, bidirectional case-crossover study, 604 adult patients admitted to a large university hospital in Central Germany for an unprovoked epileptic seizure between 2003 and 2010 were recruited. The effect of atmospheric pressure, relative air humidity, and ambient temperature on the onset of epileptic seizures under temperate climate conditions was estimated...
May 8, 2017: Epilepsia
https://www.readbyqxmd.com/read/28480518/postmarketing-experience-with-brivaracetam-in-the-treatment-of-epilepsies-a-multicenter-cohort-study-from-germany
#5
Isabel Steinig, Felix von Podewils, Gabriel Möddel, Sebastian Bauer, Karl Martin Klein, Esther Paule, Philipp S Reif, Laurent M Willems, Johann Philipp Zöllner, Rhina Kunz, Uwe Runge, Gerhard Kurlemann, Susanne Schubert-Bast, Felix Rosenow, Adam Strzelczyk
OBJECTIVE: To evaluate factors predicting efficacy, retention, and tolerability of add-on brivaracetam (BRV) in clinical practice. METHODS: A multicenter, retrospective cohort study recruiting all patients who started BRV between February and November 2016 with observation time between 3 and 12 months. RESULTS: Of a total of 262 patients (mean age 40, range 5-81 years, 129 male) treated with BRV, 227 (87%) were diagnosed to have focal, 19 (7%) idiopathic generalized and 8 (3%) symptomatic generalized epilepsy, whereas 8 (3%) were unclassified...
May 8, 2017: Epilepsia
https://www.readbyqxmd.com/read/28480502/enriched-environment-attenuates-behavioral-seizures%C3%A2-and-depression-in-chronic%C3%A2-temporal-lobe-epilepsy
#6
Marigowda Vrinda, Arun Sasidharan, Sahajan Aparna, Bettadapura N Srikumar, Bindu M Kutty, Byrathnahalli S Shankaranarayana Rao
OBJECTIVE: Temporal lobe epilepsy (TLE) is commonly associated with depression, anxiety, and cognitive impairment. Despite significant progress in our understanding of the pathophysiology of TLE, it remains the most common form of refractory epilepsy. Enriched environment (EE) has a beneficial effect in many neuropsychiatric disorders. However, the effect of EE on cognitive changes in chronic TLE has not been evaluated. Accordingly, the present study evaluated the effects of EE on chronic epilepsy-induced alterations in cognitive functions, electrophysiology, and cellular changes in the hippocampus...
May 8, 2017: Epilepsia
https://www.readbyqxmd.com/read/28471529/reduced-steroidogenesis-in-patients-with-pcdh19-female-limited-epilepsy
#7
Marina Trivisano, Chiara Lucchi, Cecilia Rustichelli, Alessandra Terracciano, Raffaella Cusmai, Grazia Maria Ubertini, Germana Giannone, Enrico Silvio Bertini, Federico Vigevano, Jozef Gecz, Giuseppe Biagini, Nicola Specchio
Patients affected by protocadherin 19 (PCDH19)-female limited epilepsy (PCDH19-FE) present a remarkable reduction in allopregnanolone blood levels. However, no information is available on other neuroactive steroids and the steroidogenic response to hormonal stimulation. For this reason, we evaluated allopregnanolone, pregnanolone, and pregnenolone sulfate by liquid chromatographic procedures coupled with electrospray tandem mass spectrometry in 12 unrelated patients and 15 age-matched controls. We also tested cortisol, estradiol, progesterone, and 17OH-progesterone using standard immunoassays...
May 4, 2017: Epilepsia
https://www.readbyqxmd.com/read/28470748/anxiety-and-depressive-disorders-in-people-with-epilepsy-a-meta-analysis
#8
Amelia J Scott, Louise Sharpe, Caroline Hunt, Milena Gandy
OBJECTIVE: Comorbid anxiety and depressive disorders in people with epilepsy (PWE) are highly prevalent and associated with various adverse outcomes. However, the prevalence of anxiety disorders in PWE across studies is highly variable. Our aim was to estimate the prevalence and moderating factors of anxiety and depressive disorders in PWE. METHODS: Following prospective registration (PROSPERO; CRD42015027101), electronic databases were searched for studies that reported the prevalence of both anxiety and depressive disorders in samples of PWE up until July 2016...
May 3, 2017: Epilepsia
https://www.readbyqxmd.com/read/28464309/psychiatric-and-behavioral-comorbidities-in-epilepsy-a-critical-reappraisal
#9
REVIEW
Anne T Berg, Hamada H Altalib, Orrin Devinsky
Psychiatric and behavioral disorders are important aspects of epilepsy and have received increasing attention in the last several years. The literature upon which most of the field relies contains some biases that must be carefully examined and resolved in future studies. First, in the pediatric epilepsy literature, many reports find that children with epilepsy have high levels of behavioral and psychiatric disorders when compared to appropriate controls. Most of these studies rely on parent-proxy completed instruments to assess these behavioral endpoints...
May 2, 2017: Epilepsia
https://www.readbyqxmd.com/read/28464295/obstructive-apnea-due-to-laryngospasm-links-ictal-to-postictal-events-in-sudep-cases-and-offers-practical-biomarkers-for-review-of-past-cases-and-prevention-of-new-ones
#10
Mark Stewart, Richard Kollmar, Ko Nakase, Joshua Silverman, Krishnamurthi Sundaram, Rena Orman, Jason Lazar
Seizure spread into autonomic and respiratory brainstem regions is thought to play an important role in sudden unexpected death in epilepsy (SUDEP). As the clinical dataset of cases of definite SUDEP available for study grows, evidence points to a sequence of events that includes postictal apnea, bradycardia, and asystole as critical events that can lead to death. One possible link between the precipitating seizure and the critical postictal sequence is seizure-driven laryngospasm sufficient to completely obstruct the airway for an extended period, but ictal laryngospasm is difficult to fully assess...
May 2, 2017: Epilepsia
https://www.readbyqxmd.com/read/28464288/electroclinical-findings-of-minor-motor-events-during-sleep-in-temporal-lobe-epilepsy
#11
Loretta Giuliano, Denise Uccello, Daniela Fatuzzo, Greta Mainieri, Mario Zappia, Vito Sofia
OBJECTIVE: It is well known that sleep-related motor seizures can originate from the temporal lobe. However, little is known about the clinical features of minor motor manifestations during sleep in patients with temporal lobe epilepsy. The main objective of our study was to verify the existence of minor motor events during sleep in patients with mesial temporal lobe epilepsy (MTLE) and to define their clinical features and electroencephalography (EEG) correlations. METHODS: We enrolled in the study patients with diagnosis of symptomatic MTLE and a group of healthy controls...
May 2, 2017: Epilepsia
https://www.readbyqxmd.com/read/28464258/long-term-outcome-in-adolescent-onset-generalized-genetic-epilepsies
#12
Bernd J Vorderwülbecke, Alexander B Kowski, Andrea Kirschbaum, Hannah Merkle, Philine Senf, Dieter Janz, Martin Holtkamp
OBJECTIVE: Until now, it has been unclear if the three subsyndromes of adolescent-onset generalized genetic epilepsy (GGE) differ in long-term prognosis. Therefore, this study aimed to compare long-term seizure outcome in juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (EGTCS). METHODS: This retrospective study is based on the archive of an institutional tertiary care outpatient clinic for adult patients with epilepsy...
May 2, 2017: Epilepsia
https://www.readbyqxmd.com/read/28449218/development-and-pharmacologic-characterization-of-the-rat-6-hz-model-of-partial-seizures
#13
Cameron S Metcalf, Peter J West, Kyle E Thomson, Sharon F Edwards, Misty D Smith, H S White, Karen S Wilcox
OBJECTIVE: The mouse 6 Hz model of psychomotor seizures is a well-established and commonly used preclinical model for antiseizure drug (ASD) discovery. Despite its widespread use both in the identification and differentiation of novel ASDs in mice, a corresponding assay in rats has not been developed. We established a method for 6 Hz seizure induction in rats, with seizure behaviors similar to those observed in mice including head nod, jaw clonus, and forelimb clonus. METHODS: A convulsive current that elicits these seizure behaviors in 97% of rats (CC97 ) was determined using a Probit analysis...
April 27, 2017: Epilepsia
https://www.readbyqxmd.com/read/28448686/plasma-cytokines-associated-with-febrile-status-epilepticus-in-children-a-potential-biomarker-for-acute-hippocampal-injury
#14
William B Gallentine, Shlomo Shinnar, Dale C Hesdorffer, Leon Epstein, Douglas R Nordli, Darrell V Lewis, L Matthew Frank, Syndi Seinfeld, Ruth C Shinnar, Karen Cornett, Binyi Liu, Solomon L Moshé, Shumei Sun
OBJECTIVE: Our aim was to explore the association between plasma cytokines and febrile status epilepticus (FSE) in children, as well as their potential as biomarkers of acute hippocampal injury. METHODS: Analysis was performed on residual samples of children with FSE (n = 33) as part of the Consequences of Prolonged Febrile Seizures in Childhood study (FEBSTAT) and compared to children with fever (n = 17). Magnetic resonance imaging (MRI) was obtained as part of FEBSTAT within 72 h of FSE...
April 27, 2017: Epilepsia
https://www.readbyqxmd.com/read/28448683/magnetic-resonance-imaging-connectivity-for-the-prediction-of-seizure-outcome-in-temporal-lobe-epilepsy
#15
Victoria L Morgan, Dario J Englot, Baxter P Rogers, Bennett A Landman, Ahmet Cakir, Bassel W Abou-Khalil, Adam W Anderson
OBJECTIVE: Currently, approximately 60-70% of patients with unilateral temporal lobe epilepsy (TLE) remain seizure-free 3 years after surgery. The goal of this work was to develop a presurgical connectivity-based biomarker to identify those patients who will have an unfavorable seizure outcome 1-year postsurgery. METHODS: Resting-state functional and diffusion-weighted 3T magnetic resonance imaging (MRI) was acquired from 22 unilateral (15 right, 7 left) patients with TLE and 35 healthy controls...
April 27, 2017: Epilepsia
https://www.readbyqxmd.com/read/28448680/22q11-2-deletion-syndrome-lowers-seizure-threshold-in-adult-patients-without-epilepsy
#16
Robert G Wither, Felippe Borlot, Alex MacDonald, Nancy J Butcher, Eva W C Chow, Anne S Bassett, Danielle M Andrade
OBJECTIVE: Previous studies examining seizures in patients with 22q11.2 deletion syndrome (22q11.2DS) have focused primarily on children and adolescents. In this study we investigated the prevalence and characteristics of seizures and epilepsy in an adult 22q11.2DS population. METHODS: The medical records of 202 adult patients with 22q11.2DS were retrospectively reviewed for documentation of seizures, electroencephalography (EEG) reports, and magnetic resonance imaging (MRI) findings...
April 27, 2017: Epilepsia
https://www.readbyqxmd.com/read/28440954/heart-rate-variability-indices-as-predictors-of-the-response-to-vagus-nerve-stimulation-in-patients-with-drug-resistant-epilepsy
#17
Hongyun Liu, Zhao Yang, Lei Huang, Wei Qu, Hongwei Hao, Luming Li
OBJECTIVE: To assess heart-rate variability (HRV) measures of interictal electrocardiography (ECG) for drug-resistant epilepsy and to relate the findings to the outcome of vagus nerve stimulation (VNS) treatment. METHODS: Time-domain, frequency-domain, and nonlinear analyses were used to analyze preoperative HRV measures in 32 patients with drug-resistant epilepsy who had received VNS implants at the same hospital and 32 healthy age- and sex-matched control subjects...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#18
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28426130/length-of-stay-for-patients-undergoing-invasive-electrode-monitoring-with-stereoelectroencephalography-and-subdural-grids-correlates-positively-with-increased-institutional-profitability
#19
Alvin Y Chan, Sohayla Kharrat, Kelly Lundeen, Lilit Mnatsakanyan, Mona Sazgar, Indranil Sen-Gupta, Jack J Lin, Frank P K Hsu, Sumeet Vadera
OBJECTIVE: Lowering the length of stay (LOS) is thought to potentially decrease hospital costs and is a metric commonly used to manage capacity. Patients with epilepsy undergoing intracranial electrode monitoring may have longer LOS because the time to seizure is difficult to predict or control. This study investigates the effect of economic implications of increased LOS in patients undergoing invasive electrode monitoring for epilepsy. METHODS: We retrospectively collected and analyzed patient data for 76 patients who underwent invasive monitoring with either subdural grid (SDG) implantation or stereoelectroencephalography (SEEG) over 2 years at our institution...
April 20, 2017: Epilepsia
https://www.readbyqxmd.com/read/28418198/stress-is-associated-with-an-increased-risk-of-recurrent-seizures-in-adults
#20
Elisa Baldin, W Allen Hauser, Alison Pack, Dale C Hesdorffer
OBJECTIVE: The literature is sparse on the complex interrelationships between stressors, depression, anxiety disorders, and epilepsy. We hypothesized that a relationship exists between stress and epilepsy. We evaluated whether markers of stress are associated with seizure recurrence in a low income community-based cohort of adults with single unprovoked seizure or newly diagnosed epilepsy. METHODS: We ascertained adult residents of Northern Manhattan and Harlem, New York City, with a first unprovoked seizure or newly diagnosed epilepsy, between December 2010 and January 2013...
April 18, 2017: Epilepsia
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