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https://www.readbyqxmd.com/read/28641168/aicardi-syndrome-and-cognitive-abilities-a-report-of-five-cases
#1
Mia Tuft, Ylva Østby, Karl O Nakken, Caroline Lund
Aicardi syndrome is a rare neurodevelopmental disorder with agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms as the main features. The outcome is in general severe, with poor cognitive development and difficult-to-treat epilepsy. In this study, we assessed the level of cognitive function of five girls with Aicardi syndrome, using normed population based tests and questionnaires. Their cognitive abilities varied from mild to profound intellectual disabilities. The more severe the epilepsy, the poorer were the cognitive skills...
June 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28633092/epilepsy-in-neurofibromatosis-type-1
#2
Anthony Pecoraro, Eric Arehart, William Gallentine, Rodney Radtke, Edward Smith, Carolyn Pizoli, Sujay Kansagra, Elie Abdelnour, Roger McLendon, Mohamad A Mikati
OBJECTIVES: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1). METHODS: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period. RESULTS: Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Of the 26, 17 (65%) had localization-related epilepsy, seven of whom (41%) were drug resistant. Six (23%) had apparently primary generalized epilepsy (0/6 drug resistant), two (8%) Lennox-Gastaut syndrome, and one (4%) West syndrome (all three were drug-resistant)...
June 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28631894/serpini1-pathogenic-variants-an-emerging-cause-of-childhood-onset-progressive-myoclonic-epilepsy
#3
Emmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, Michel Guipponi, Johannes A Lobrinus, Armand Bottani, Ilse Kern, Mary Kurian, Marie-Pascale Pittet, Stylianos E Antonarakis, Joel Fluss, Christian M Korff
Progressive myoclonic epilepsies are rare neurodegenerative diseases with a wide spectrum of clinical presentations and genetic heterogeneity that render their diagnosis perplexing. Discovering new imputable genes has been an ongoing process in recent years. We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation; we highlight the importance of including this gene, previously known as causing an adult-onset dementia-epilepsy syndrome, in the genetic work-up of childhood-onset progressive myoclonic epilepsies...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28630220/beyond-cervical-lipomas-myoclonus-gait-disorder-and-multisystem-involvement-leading-to-mitochondrial-disease
#4
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m...
June 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28628937/the-epilepsy-aphasia-spectrum-from-landau-kleffner-syndrome-to-rolandic-epilepsy
#5
Bigna Katrin Bölsterli Heinzle
No abstract text is available yet for this article.
June 19, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28626979/electro-clinical-criteria-and-surgical-outcome-is-there-a-difference-between-mesial-and-lesional-temporal-lobe-epilepsy
#6
M Wassenaar, F S S Leijten, G-J de Haan, S G Uijl, J W Sander
OBJECTIVES: Mesial temporal lobe epilepsy syndrome (MTLE) with specific electrophysiological and clinical characteristics and hippocampal sclerosis (HS) on MRI is considered the prototype of a syndrome with good surgical prognosis. Ictal onset zones in MTLE have been found to extend outside the hippocampus and neocortical seizures often involve mesial structures. It can, thus, be questioned whether MTLE with HS is different from lesional temporal epilepsies with respect to electro-clinical characteristics and surgical prognosis...
June 18, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28624720/retention-of-perampanel-in-adults-with-pharmacoresistant-epilepsy-at-a-single-tertiary-care-center
#7
Tim Wehner, Shahidul Mannan, Sanchit Turaga, Kirtana Vallabhaneni, Hao Meng Yip, Carys Wiggans, Rohit Shankar, John S Duncan, Josemir W Sander
RATIONALE: Observational data on antiepileptic drugs (AEDs) inform about their use in clinical practice. We describe our clinical experience with perampanel (PER) in a large UK tertiary epilepsy center. METHODS: Adults initiated on PER between October 2012 and March 2015 were followed until they discontinued PER or 10 September 2016. Data on epilepsy syndrome, duration, seizure types, concomitant and previous AED use, PER dosing, efficacy and side effects were recorded...
June 15, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28622557/the-executive-profile-of-children-with-benign-epilepsy-of-childhood-with-centrotemporal-spikes-and-temporal-lobe-epilepsy
#8
Ellen M Lima, Patricia Rzezak, Catarina A Guimarães, Maria A Montenegro, Marilisa M Guerreiro, Kette D Valente
RATIONALE: Benign Epilepsy of Childhood with Centrotemporal Spikes (BECTS) and temporal lobe epilepsy (TLE) represent two distinct models of focal epilepsy of childhood. In both, there is evidence of executive dysfunction. The purpose of the present study was to identify particular deficits in the executive function that would distinguish children with BECTS from children with TLE. METHODS: We prospectively evaluated 19 consecutive children and adolescents with TLE with hippocampal sclerosis (HS) (57...
June 13, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28622122/exploding-head-syndrome-in-the-epilepsy-monitoring-unit-case-report-and-literature-review
#9
Kara Gillis, Marcus C Ng
Diagnosis of paroxysmal events in epilepsy patients is often made through video-telemetry electroencephalography in the epilepsy monitoring unit. This case report describes the first-ever diagnosis of exploding head syndrome in a patient with longstanding epilepsy and novel nocturnal events. In this report, we describe the presentation of exploding head syndrome and its prevalence and risk factors. In addition, the prevalence of newly diagnosed sleep disorders through video-telemetry electroencephalography in the epilepsy monitoring unit is briefly reviewed...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28621765/epilepsy-cannabidiol-reduces-seizure-frequency-in-dravet-syndrome
#10
Charlotte Ridler
No abstract text is available yet for this article.
June 9, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28620870/severe-growth-deficiency-microcephaly-intellectual-disability-and-characteristic-facial-features-are-due-to-a-homozygous-qars-mutation
#11
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, Chana Vinkler, Keren Yosovich, Sarit Bahar, Miri Yanoov-Sharav, Tally Lerman-Sagie, Dorit Lev
Glutaminyl tRNA synthase is highly expressed in the developing fetal human brain. Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. We have previously reported a new recessive syndrome of severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and intellectual disability in two sisters of Ashkenazi-Jewish origin (Eur J Med Genet 2014;57(6):288-92)...
June 15, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28617265/a-case-of-fulminant-subacute-sclerosing-panencephalitis-presenting-with-acute-myoclonic-astatic-epilepsy
#12
Fabio Magurano, Gian Luca Marella, Antonella Marchi, Antonietta Filia, Luigi Tonino Marsella, Saverio Potenza, Roberto Massa, Paola Bucci, Melissa Baggieri, Loredana Nicoletti
The neurologic sequelae post-measles are less common than other complications measles-related and can lead to severe disability or death: primary measles encephalitis (PME), acute post-infectious measles encephalomyelitis (APME), measles inclusion body encephalitis (MIBE), and subacute sclerosing panencephalitis (SSPE). SSPE syndrome can affect people years from the acute measles virus infection, as result of the persistence of defective viral particles in brain cells. Clinical onset typically manifests with progressive intellectual deterioration, behavioral changes, and myoclonic jerks...
April 2017: Annali Dell'Istituto Superiore di Sanità
https://www.readbyqxmd.com/read/28615892/molecular-genetics-of-epilepsy-a-clinician-s-perspective
#13
REVIEW
Vikas Dhiman
Epilepsy is a common neurological problem, and there is a genetic basis in almost 50% of people with epilepsy. The diagnosis of genetic epilepsies makes the patient assured of the reasons of his/her seizures and avoids unnecessary, expensive, and invasive investigations. Last decade has shown tremendous growth in gene sequencing technologies, which have made genetic tests available at the bedside. Whole exome sequencing is now being routinely used in the clinical setting for making a genetic diagnosis. Genetic testing not only makes the diagnosis but also has an effect on the management of the patients, for example, the role of sodium channels blockers in SCN1A+ Dravet syndrome patients and usefulness of ketogenic diet therapy in SLC2A1+ generalized epilepsy patients...
April 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28615755/role-of-electroencephalography-in-the-diagnosis-and-treatment-of-neuropsychiatric-border-zone-syndromes
#14
REVIEW
Sadanandavalli Retnaswami Chandra, A Asheeb, Santhosh Dash, Nikhil Retna, Karu Venkata Ravi Teja, Thomas Gregor Issac
Border zone disorders involve neurological disorders with psychiatric symptoms and signs as well as psychiatric disorders with soft neurological features. This becomes a cause for great diagnostic and therapeutic concerns. We, in this paper, analyzed some of the imitators such as epilepsy, dementia, some forms of encephalitis, and pure psychiatric diseases which produce problems in decision making due to soft neurological features and the utility of electroencephalography (EEG) as a simple diagnostic tool in differentiating some of these conditions from each other as well as the therapeutic role of EEG in some of these disorders...
May 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28612063/bioelements-in-hair-of-children-with-selected-neurological-disorders
#15
Jan Józefczuk, Wiktoria Kasprzycka, Rafał Czarnecki, Alfreda Graczyk, Paweł Józefczuk, Magda Krzysztof, Urszula Lampart, Ewa Mrozowska-Ząbek, Weronika Surdy, Róża Kwiatkowska-Graczyk
We have analyzed concentrations of magnesium (Mg), calcium (Ca), copper (Cu), zinc (Zn) and iron (Fe) in hair of a group of 82 children with mental retardation, in which 9 patients suffered from epilepsy, 18 from the Down's syndrome and 55 from cerebral palsy. Girls comprised little over 50% of the patients. In the group of boys with epilepsy, we found Mg, Ca, Cu and Fe deficiency, and normal level of Zn. In the group of girls with epilepsy, apart from low Fe concentration, a high level of Ca, Mg, Zn, and Cu was noted...
2017: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/28611550/familial-5q12-3-microdeletion-evidence-for-a-locus-associated-with-epilepsy
#16
Chiara Gnan, Alessandra Franzoni, Federica Baldan, Nadia Passon, Giuseppe Damante, Patrizia Dello Russo
The clinical use of array comparative genomic hybridization (array CGH) has allowed the identification of very rare deletion and duplication disorders, such as 5q12 deletion syndrome (OMIM 615668) described as a contiguous gene deletion syndrome of chromosome 5q12. Chromosome microdeletions including band 5q12 have rarely been reported and have been associated with different phenotypes showing postnatal growth restriction, intellectual disability, epileptic seizures, hyperactivity, and ocular abnormalities...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28609734/assessment-of-treatment-patterns-and-healthcare-costs-associated-with-probable-lennox-gastaut-syndrome
#17
J Eric Piña-Garza, Georgia D Montouris, Francis Vekeman, Wendy Y Cheng, Edward Tuttle, Philippe Giguere-Duval, Mei Sheng Duh, Vivienne Shen, Timothy B Saurer, Jouko Isojarvi
Lennox-Gastaut syndrome (LGS) is a chronic and severe form of epilepsy characterized by intractable seizures, cognitive impairment, and abnormal electroencephalogram findings with slow spike-wave complexes. It typically presents before age 8, but symptoms continue into adulthood and require lifelong treatment associated with significant clinical burden. Data on LGS-associated healthcare utilization and costs are limited. In this study we use a claims-based LGS classifier based on random forest methodology to identify patients with probable LGS from the a Medicaid multi-state database and assess its prevalence across the age spectrum, healthcare utilization, treatment patterns, costs, and comorbid conditions...
June 10, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28607632/mitochondrial-transfer-from-wharton-s-jelly-mesenchymal-stem-cell-to-merrf-cybrid-reduces-oxidative-stress-and-improves-mitochondrial-bioenergetics
#18
Yao-Chung Chuang, Chia-Wei Liou, Shang-Der Chen, Pei-Wen Wang, Jiin-Haur Chuang, Mao-Meng Tiao, Te-Yao Hsu, Hung-Yu Lin, Tsu-Kung Lin
Myoclonus epilepsy associated with ragged-red fibers (MERRF) is a maternally inherited mitochondrial disease affecting neuromuscular functions. Mt.8344A>G mutation in mitochondrial DNA (mtDNA) is the most common cause of MERRF syndrome and has been linked to an increase in reactive oxygen species (ROS) level and oxidative stress, as well as impaired mitochondrial bioenergetics. Here, we tested whether WJMSC has therapeutic potential for the treatment of MERRF syndrome through the transfer of mitochondria...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28607167/the-role-of-creb-srf-and-mef2-in-activity-dependent-neuronal-plasticity-in-the-visual-cortex
#19
Nisha S Pulimood, Rodrigues Wandilson Dos Santos, Devon A Atkinson, Sandra M Mooney, Alexandre E Medina
The transcription factors CREB (cAMP Response Element Binding factor), SRF (Serum Response Factor) and MEF2 (Myocyte Enhancer Factor 2) play critical roles in the mechanisms underlying neuronal plasticity. However, the role of the activation of these transcription factors in the different components of plasticity in vivo is not well known. In this study, we tested the role of CREB, SRF and MEF2 in ocular dominance plasticity (ODP), a paradigm of activity-dependent neuronal plasticity in the visual cortex. These three proteins bind to the Synaptic Activity Response Element (SARE), an enhancer sequence found upstream of many plasticity-related genes (Kawashima et al...
June 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28605011/use-of-the-ketogenic-diet-to-manage-refractory-epilepsy-in-cdkl5-disorder-experience-of-100-patients
#20
Zhan Lim, Kingsley Wong, Heather E Olson, Ann M Bergin, Jenny Downs, Helen Leonard
OBJECTIVE: Pathogenic variants involving the CDKL5 gene result in a severe epileptic encephalopathy, often later presenting with features similar to Rett syndrome. Cardinal features of epilepsy in the CDKL5 disorder include early onset at a median age of 6 weeks and poor response to antiepileptic drugs. The ketogenic diet (KD) was first introduced in the 1920s as a treatment option for refractory epilepsy in children. This study investigated use of the KD in the CDKL5 disorder and its influences on seizures...
June 12, 2017: Epilepsia
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