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https://www.readbyqxmd.com/read/27913085/anti-n-methyl-d-aspartate-receptor-encephalitis-and-rasmussen-like-syndrome-an-association
#1
Kevin Gurcharran, Shefali Karkare
BACKGROUND: N-methyl-D-aspartate (NMDA) receptor encephalitis is an immune-mediated condition that has a broad spectrum of manifestations, including seizures, coma, psychosis, and focal neurological deficits. Although usually a diffuse process, unihemispheric involvement mimicking early stages of Rasmussen encephalitis can occur. Rasmussen's encephalitis is a unique syndrome characterized by progressive hemiplegia, drug-resistant focal epilepsy, cognitive decline, and hemispheric brain atrophy contralateral to the hemiplegia...
October 11, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27902848/topiramate-in-migraine-prevention-a-2016-perspective
#2
Stephen D Silberstein
BACKGROUND: In evidence-based guidelines published in 2000, topiramate was a third-tier migraine preventive with no scientific evidence of efficacy; recommendation for its use reflected consensus opinion and clinical experience. Its neurostabilizing activity, coupled with its favorable weight profile, made topiramate an attractive alternative to other migraine preventives that caused weight gain. When guidelines for migraine prevention in episodic migraine were published in 2012, topiramate was included as a first-line option based on double-blind, randomized controlled trials involving nearly 3000 patients...
November 30, 2016: Headache
https://www.readbyqxmd.com/read/27895568/feasibility-of-a-mobile-cognitive-intervention-in-childhood-absence-epilepsy
#3
Peter Glynn, Soyong Eom, Frank Zelko, Sookyong Koh
Children with childhood absence epilepsy (CAE) frequently present with cognitive comorbidities and school performance concerns. The present study evaluated the feasibility of an intervention for such comorbidities using a mobile cognitive therapy application on an iPad. Eight children with CAE and school concerns aged 7-11 participated in a 4-week intervention. They were asked to use the application for 80 min per week (20 min/day, 4 times/week). Parents and children completed satisfaction surveys regarding the application...
2016: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/27895554/systemic-radical-scavenger-treatment-of-a-mouse-model-of-rett-syndrome-merits-and-limitations-of-the-vitamin-e-derivative-trolox
#4
Oliwia A Janc, Marc A Hüser, Katharina Dietrich, Belinda Kempkes, Christiane Menzfeld, Swen Hülsmann, Michael Müller
Rett syndrome (RTT) is a severe neurodevelopmental disorder typically arising from spontaneous mutations in the X-chromosomal methyl-CpG binding protein 2 (MECP2) gene. The almost exclusively female Rett patients show an apparently normal development during their first 6-18 months of life. Subsequently, cognitive- and motor-impairment, hand stereotypies, loss of learned skills, epilepsy and irregular breathing manifest. Early mitochondrial impairment and oxidative challenge are considered to facilitate disease progression...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/27886629/transient-epileptic-amnesia-over-twenty-years-long-term-follow-up-of-a-case-series-with-three-detailed-reports
#5
Sharon A Savage, Christopher R Butler, John R Hodges, Adam Z Zeman
PURPOSE: Transient Epileptic Amnesia (TEA) is a form of adult onset temporal lobe epilepsy characterised by ictal amnesia. The amnesic seizures are often accompanied by interical memory disturbance, involving autobiographical amnesia and accelerated long-term forgetting. Short-term follow-up studies suggest a relatively stable cognitive profile once treated, but recent case reports raise concerns regarding the risk of developing Alzheimer's disease (AD). The current study reports clinical and cognitive outcome in TEA patients over a 20-year period...
November 14, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27885946/epilepsy-surgery-in-patients-with-autism
#6
Malgosia A Kokoszka, Patricia E McGoldrick, Maite La Vega-Talbott, Hillary Raynes, Christina A Palmese, Steven M Wolf, Cynthia L Harden, Saadi Ghatan
OBJECTIVE The purpose of this study was to report outcomes of epilepsy surgery in 56 consecutive patients with autism spectrum disorder. METHODS Medical records of 56 consecutive patients with autism who underwent epilepsy surgery were reviewed with regard to clinical characteristics, surgical management, postoperative seizure control, and behavioral changes. RESULTS Of the 56 patients with autism, 39 were male, 45 were severely autistic, 27 had a history of clinically significant levels of aggression and other disruptive behaviors, and 30 were considered nonverbal at baseline...
November 25, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27885637/the-glutamate-glutamine-cycle-in-epilepsy
#7
Tore Eid, Shaun E Gruenbaum, Roni Dhaher, Tih-Shih W Lee, Yun Zhou, Niels Christian Danbolt
Epilepsy is a complex, multifactorial disease characterized by spontaneous recurrent seizures and an increased incidence of comorbid conditions such as anxiety, depression, cognitive dysfunction, and sudden unexpected death. About 70 million people worldwide are estimated to suffer from epilepsy, and up to one-third of all people with epilepsy are expected to be refractory to current medications. Development of more effective and specific antiepileptic interventions is therefore requisite. Perturbations in the brain's glutamate-glutamine cycle, such as increased extracellular levels of glutamate, loss of astroglial glutamine synthetase, and changes in glutaminase and glutamate dehydrogenase, are frequently encountered in patients with epilepsy...
2016: Advances in Neurobiology
https://www.readbyqxmd.com/read/27884642/psychiatric-comorbidities-in-epilepsy-should-they-be-considered-in-the-classification-of-epileptic-disorders
#8
Andres M Kanner
The prevalence of psychiatric comorbidities is relatively high in people with epilepsy (PWE), as one in three patients will have experienced a psychiatric disorder in the course of their life. The new definition of epilepsy recognizes these comorbidities as part of the seizure disorder, which need to be recognized and treated together with the actual epileptic seizures. Psychiatric comorbidities have a complex relation with epilepsy, being associated with a negative course of the seizure disorder, worse tolerance of pharmacotherapy with AEDs, development of iatrogenic psychiatric complications from pharmacologic and surgical treatments, and increased mortality risks...
November 21, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27878438/interdependence-of-clinical-factors-predicting-cognition-in-children-with-tuberous-sclerosis-complex
#9
I E Overwater, B J H Verhaar, H F Lingsma, G C B Bindels-de Heus, A M W van den Ouweland, M Nellist, L W Ten Hoopen, Y Elgersma, H A Moll, M C Y de Wit
Cognitive development in patients with tuberous sclerosis complex is highly variable. Predictors in the infant years would be valuable to counsel parents and to support development. The aim of this study was to confirm factors that have been reported to be independently correlated with cognitive development. 102 patients included in this study were treated at the ENCORE-TSC expertise center of the Erasmus Medical Center-Sophia Children's Hospital. Data from the first 24 months of life were used, including details on epilepsy, motor development and mutation status...
November 22, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27876294/reprint-of-the-new-approach-to-epilepsy-classification-cognition-and-behavior-in-adult-epilepsy-syndromes
#10
REVIEW
Sallie Baxendale, Pamela Thompson
The revised terminology and concepts for the organization of seizures and epilepsy proposed by the ILAE Commission on Classification and Terminology in 2010 allows for a number of new opportunities in the study of cognition and behavior in adults. This review examines the literature that has looked for behavioral and cognitive correlates of the newly recognized genetic epilepsies in adults. While some studies report clear cognitive phenotypes associated with specific genetic mutations in adults with epilepsy, others report remarkable clinical heterogeneity...
November 18, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27876292/reprint-of-the-new-approach-to-classification-rethinking-cognition-and-behavior-in-epilepsy
#11
REVIEW
Sarah J Wilson, Sallie Baxendale
There has been considerable debate surrounding the benefits and drawbacks of the new approach to classifying the epilepsies released by the ILAE Commission on Classification and Terminology (2005-2009). This new approach has significant implications for the way we conceptualize and assess cognition and behavior in epilepsy; however, as yet, there has been limited discussion of these issues in the field. The purpose of this Targeted Review is to spark this discussion by encouraging researchers and clinicians to think about the changes that the new approach may bring...
November 18, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27875746/de-novo-and-inherited-scn8a-epilepsy-mutations-detected-by-gene-panel-analysis
#12
Kameryn M Butler, Cristina da Silva, Yuval Shafir, James D Weisfeld-Adams, John J Alexander, Madhuri Hegde, Andrew Escayg
OBJECTIVES: To determine the incidence of pathogenic SCN8A variants in a cohort of epilepsy patients referred for clinical genetic testing. We also investigated the contribution of SCN8A to autism spectrum disorder, intellectual disability, and neuromuscular disorders in individuals referred for clinical genetic testing at the same testing laboratory. METHODS: Sequence data from 275 epilepsy panels screened by Emory Genetics Laboratory were reviewed for variants in SCN8A...
November 6, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27874832/postictal-behavioural-impairments-are-due-to-a-severe-prolonged-hypoperfusion-hypoxia-event-that-is-cox-2-dependent
#13
Jordan S Farrell, Ismael Gaxiola-Valdez, Marshal D Wolff, Laurence S David, Haruna I Dika, Bryce L Geeraert, X Rachel Wang, Shaily Singh, Simon C Spanswick, Jeff F Dunn, Michael C Antle, Paolo Federico, Gordon Campbell Teskey
Seizures are often followed by sensory, cognitive or motor impairments during the postictal phase that show striking similarity to transient hypoxic/ischemic attacks. Here we show that seizures result in a severe hypoxic attack confined to the postictal period. We measured brain oxygenation in localized areas from freely-moving rodents and discovered a severe hypoxic event (pO2<10mmHg) after the termination of seizures. This event lasted over an hour, is mediated by hypoperfusion, generalizes to people with epilepsy, and is attenuated by inhibiting cyclooxygenase-2 or L-type calcium channels...
November 22, 2016: ELife
https://www.readbyqxmd.com/read/27873376/extended-long-term-effects-of-cervical-vagal-nerve-stimulation-on-headache-intensity-frequency-and-affective-cognitive-headache-perception-in-drug-resistant-complex-partial-seizure-patients
#14
Bogdan Pintea, Kevin Hampel, Jan Boström, Rainer Surges, Hartmut Vatter, Ilana S Lendvai, Thomas M Kinfe
OBJECTIVES: Invasive vagal nerve stimulation (iVNS) is an established treatment option for drug-resistant focal seizures and has been assumed to diminish frequent co-incidental daily headache/migraine. However, long-term effects on cognitive/affective head pain perception, headache intensity/frequency are lacking. We therefore investigated potential iVNS-induced effects in patients with drug-resistant focal seizure and daily headache/migraine. MATERIALS AND METHODS: A clinical database was used to select 325 patients with drug-resistant epilepsy treated by either iVNS plus best medical treatment (BMT) or BMT alone, compared to a healthy control group (HC)...
November 22, 2016: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/27871429/novel-sacs-mutations-associated-with-intellectual-disability-epilepsy-and-widespread-supratentorial-abnormalities
#15
Zafar Ali, Joakim Klar, Mohammad Jameel, Kamal Khan, Ambrin Fatima, Raili Raininko, Shahid Baig, Niklas Dahl
We describe eight subjects from two consanguineous families segregating with autosomal recessive childhood onset spastic ataxia, peripheral neuropathy and intellectual disability. The degree of intellectual disability varied from mild to severe and all four affected individuals in one family developed aggressive behavior and epilepsy. Using exome sequencing, we identified two novel truncating mutations (c.2656C>T (p.Gln886*)) and (c.4756_4760delAATCA (p.Asn1586Tyrfs*3)) in the SACS gene responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)...
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27866705/epileptic-encephalopathy-caused-by-mutations-in-the-guanine-nucleotide-exchange-factor-dennd5a
#16
Chanshuai Han, Reem Alkhater, Tawfiq Froukh, Arakel G Minassian, Melissa Galati, Rui Han Liu, Maryam Fotouhi, Julia Sommerfeld, Ayman J Alfrook, Christian Marshall, Susan Walker, Peter Bauer, Stephen W Scherer, Olaf Riess, Rebecca Buchert, Berge A Minassian, Peter S McPherson
Epileptic encephalopathies are a catastrophic group of epilepsies characterized by refractory seizures and cognitive arrest, often resulting from abnormal brain development. Here, we have identified an epileptic encephalopathy additionally featuring cerebral calcifications and coarse facial features caused by recessive loss-of-function mutations in DENND5A. DENND5A contains a DENN domain, an evolutionarily ancient enzymatic module conferring guanine nucleotide exchange factor (GEF) activity to multiple proteins serving as GEFs for Rabs, which are key regulators of membrane trafficking...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27865173/accelerated-cognitive-decline-in-a-rodent-model-for-temporal-lobe-epilepsy
#17
Sandra Schipper, Marlien W Aalbers, Kim Rijkers, Melanie Lagiere, Jan G Bogaarts, Arjan Blokland, Sylvia Klinkenberg, Govert Hoogland, Johan S H Vles
OBJECTIVE: Cognitive impairment is frequently observed in patients with temporal lobe epilepsy. It is hypothesized that cumulative seizure exposure causes accelerated cognitive decline in patients with epilepsy. We investigated the influence of seizure frequency on cognitive decline in a rodent model for temporal lobe epilepsy. METHODS: Neurobehavioral assessment was performed before and after surgery, after the induction of self-sustaining limbic status epilepticus (SSLSE), and in the chronic phase in which rats experienced recurrent seizures...
November 16, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27864833/structured-clinical-documentation-in-the-electronic-medical-record-to-improve-quality-and-to-support-practice-based-research-in-epilepsy
#18
Jaishree Narayanan, Sofia Dobrin, Janet Choi, Susan Rubin, Anna Pham, Vimal Patel, Roberta Frigerio, Darryck Maurer, Payal Gupta, Lourdes Link, Shaun Walters, Chi Wang, Yuan Ji, Demetrius M Maraganore
OBJECTIVE: Using the electronic medical record (EMR) to capture structured clinical data at the point of care would be a practical way to support quality improvement and practice-based research in epilepsy. METHODS: We describe our stepwise process for building structured clinical documentation support tools in the EMR that define best practices in epilepsy, and we describe how we incorporated these toolkits into our clinical workflow. RESULTS: These tools write notes and capture hundreds of fields of data including several score tests: Generalized Anxiety Disorder-7 items, Neurological Disorders Depression Inventory for Epilepsy, Epworth Sleepiness Scale, Quality of Life in Epilepsy-10 items, Montreal Cognitive Assessment/Short Test of Mental Status, and Medical Research Council Prognostic Index...
November 19, 2016: Epilepsia
https://www.readbyqxmd.com/read/27857784/pyridoxine-dependent-convulsions-among-children-with-refractory-seizures-a-3-year-follow-up-study
#19
Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac, Sai Deepak, Ravi Teja, Seby Kuruthukulangara
INTRODUCTION: Epilepsy accounts for 1% of the global disease burden and about 8-10 million epilepsy patients live in India. About 30-40% of these patients become drug-resistant and land up with palliative or disease-modifying surgeries. This is a situation causing great concern in view of the psychosocial and economic burden on the patient and the family apart from severe cognitive and motor consequences, especially in children. Therefore, it is mandatory to have an insight into the wide spectrum of causes with reference to refractoriness to antiepileptic medications in children with epilepsy...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27855768/-cognitive-deficits-are-underestimated-in-children-with-benign-epilepsy-with-centro-temporal-spikes
#20
Mary Doreen Atkins, Kirsten Juul
Benign epilepsy with centro-temporal spikes (BECTS) is, as the name suggests, usually considered benign. However, there is a growing awareness that this is not the case in all instances. Many of the children with BECTS have neuropsychological and linguistic dysfunctions, even after remission of the disease. In patients with classic BECTS, an association with GRIN2A-mutations is reported by several groups, suggesting a possible placement of BECTS at the mild end of an epileptic-aphasia spectrum. Awareness of the possible neuropsychological consequences of BECTS should be considered when treating these children...
November 7, 2016: Ugeskrift for Laeger
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