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Epilepsy

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23 papers 0 to 25 followers
https://www.readbyqxmd.com/read/28284393/epilepsy-in-inborn-errors-of-metabolism-with-therapeutic-options
#1
Jaume Campistol
Inborn errors of metabolism (IEM) are rare conditions that represent more than 1000 diseases, with a global prevalence of approximately 1:2000 individuals. Approximately, 40%-60% of IEM may present with epilepsy as one of the main neurologic signs. Epilepsy in IEM may appear at any age (fetal, newborn, infant, adolescent, or even adult). Different pathophysiological mechanisms may be responsible for the clinical phenotype, such as disturbances in energy metabolism (mitochondrial and fatty oxidation disorders, GLUT-1, and cerebral creatine deficiency), accumulation of complex molecules (lysosomal storage disorders), toxic mechanisms (organic acidurias and urea cycle disorders), or impairment of neurotransmission...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28434238/the-characteristics-and-long-term-course-of-epilepsy-in-lipoid-proteinosis-a-spectrum-from-mild-to-severe-seizures-in-relation-to-ecm1-mutations
#2
Emel Oguz Akarsu, Firdevs Dinçsoy Bir, Can Baykal, Volkan Taşdemir, Bülent Kara, Nerses Bebek, Candan Gürses, Oya Uyguner, Betül Baykan
Lipoid proteinosis (LP) is a rare autosomal recessive disease characterized by deposition of hyaline material in skin and mucosae. Epilepsy, as an extracutaneous manifestation associated with typical mesial temporal calcifications, has already been identified, but its characteristics and long-term prognosis have not been thoroughly investigated. We included 7 consecutive patients with LP with typical intracranial calcifications out of 16 patients with ECM1 mutations and investigated the semiologic features, ictal and interictal EEG findings, and long-term prognosis of epilepsy in this genodermatosis...
April 1, 2017: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/28238390/electro-clinical-etiological-associations-of-epilepsia-partialis-continua-in-57-chinese-children
#3
Hui Li, Jiao Xue, Ping Qian, Yuehua Zhang, Xinhua Bao, Xiaoyan Liu, Zhixian Yang
OBJECTIVE: Epilepsia partialis continua (EPC) was one type of focal status epilepticus. The aim of this study was to analyze the clinical and electroencephalography (EEG) characteristics, and outcome of 57 child-onset patients with EPC according to different etiologies, and further explore the electro-clinical-etiological associations. METHODS: We retrospectively reviewed 57 children diagnosed with EPC in our department over last ten years. Etiology, clinical and EEG data, and outcome were categorized and analyzed...
June 2017: Brain & Development
https://www.readbyqxmd.com/read/28292732/alternating-hemiplegia-and-epilepsia-partialis-continua-a-new-phenotype-for-a-novel-compound-tbc1d24-mutation
#4
Francesca Ragona, Barbara Castellotti, Barbara Salis, Stefania Magri, Jacopo C DiFrancesco, Nardo Nardocci, Silvana Franceschetti, Cinzia Gellera, Tiziana Granata
Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait. The TBC1D24 gene encodes a member of the TBC family domain proteins, involved in cell signaling and oxidative stress resistance. We studied, by a Next Generation Sequencing (NGS) target re-sequencing gene approach, the DNA of a 5 year-old girl, affected by recurrent attacks of Alternating Hemiplegia (AH) and by recurrent episodes of Epilepsia Partialis Continua (EPC)...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28282553/challenges-in-the-treatment-of-convulsive-status-epilepticus
#5
REVIEW
Gaetano Zaccara, Gianfranco Giannasi, Roberto Oggioni, Eleonora Rosati, Luciana Tramacere, Pasquale Palumbo
Convulsive status epilepticus (CSE) is a medical emergency associated with high mortality and morbidity. The most recent definition of CSE is a convulsive seizure lasting more than 5min or consecutive seizures without recovery of consciousness. In adults, for the treatment of the early stages of CSE, diazepam, lorazepam or midazolam are the most common treatments, although the choice of agent seems less important than rapid treatment. Midazolam, when administered intramuscularly (best evidence), buccally, or nasally, is effective and safe in the pre-hospital setting...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28276064/instruction-manual-for-the-ilae-2017-operational-classification-of-seizure-types
#6
Robert S Fisher, J Helen Cross, Carol D'Souza, Jacqueline A French, Sheryl R Haut, Norimichi Higurashi, Edouard Hirsch, Floor E Jansen, Lieven Lagae, Solomon L Moshé, Jukka Peltola, Eliane Roulet Perez, Ingrid E Scheffer, Andreas Schulze-Bonhage, Ernest Somerville, Michael Sperling, Elza Márcia Yacubian, Sameer M Zuberi
This companion paper to the introduction of the International League Against Epilepsy (ILAE) 2017 classification of seizure types provides guidance on how to employ the classification. Illustration of the classification is enacted by tables, a glossary of relevant terms, mapping of old to new terms, suggested abbreviations, and examples. Basic and extended versions of the classification are available, depending on the desired degree of detail. Key signs and symptoms of seizures (semiology) are used as a basis for categories of seizures that are focal or generalized from onset or with unknown onset...
April 2017: Epilepsia
https://www.readbyqxmd.com/read/28213908/a-randomized-controlled-trial-of-lacosamide-versus-sodium-valproate-in-status-epilepticus
#7
Usha K Misra, Deepanshu Dubey, Jayantee Kalita
OBJECTIVE: To compare the efficacy and safety of lacosamide (LCM) and sodium valproate (SVA) in lorazepam (LOR)-resistant status epilepticus (SE). METHODS: Patients with LOR-resistant SE were randomized to intravenous LCM 400 mg at a rate of 60 mg/kg/min or SVA 30 mg/kg at a rate of 100 mg/min. The SE severity score (STESS), duration of SE and its etiology, and magnetic resonance imaging (MRI) findings were noted. Primary outcome was seizure cessation for 1 h, and secondary outcomes were 24 h seizure remission, in hospital death and severe adverse events (SAEs)...
February 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28213372/effect-of-topiramate-and-zonisamide-on-fmri-cognitive-networks
#8
Britta Wandschneider, Jane Burdett, Lucy Townsend, Andrea Hill, Pamela J Thompson, John S Duncan, Matthias J Koepp
OBJECTIVE: To investigate the effects of topiramate (TPM), zonisamide (ZNS), and levetiracetam (LEV) on cognitive network activations in patients with focal epilepsy using an fMRI language task. METHODS: In a retrospective, cross-sectional study, we identified patients from our clinical database of verbal fluency fMRI studies who were treated with either TPM (n = 32) or ZNS (n = 51). We matched 62 patients for clinical measures who took LEV but not TPM or ZNS. We entered antiepileptic comedications as nuisance variables and compared out-of-scanner psychometric measures for verbal fluency and working memory between groups...
March 21, 2017: Neurology
https://www.readbyqxmd.com/read/28120042/recent-advances-in-epilepsy
#9
Mark Manford
This paper reviews advances in epilepsy in recent years with an emphasis on therapeutics and underlying mechanisms, including status epilepticus, drug and surgical treatments. Lessons from rarer epilepsies regarding the relationship between epilepsy type, mechanisms and choice of antiepileptic drugs (AED) are explored and data regarding AED use in pregnancy are reviewed. Concepts evolving towards a move from treating seizures to treating epilepsy are discussed, both in terms of the mechanisms of epileptogenesis, and in terms of epilepsy's broader comorbidity, especially depression...
January 24, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28134012/treatment-of-epileptic-encephalopathies
#10
Hiroki Nariai, Susan Duberstein, Shlomo Shinnar
Childhood epileptic encephalopathies are age-dependent disorders of the brain whose hallmarks include loss of neurologic function over time, abnormal electroencephalographic findings, and seizures. Ictal and interictal electrographic activity are conjointly thought to be at the root of the often devastating neuropsychological deterioration, which is specific to the maturing brain. The goals of treatment are not only to control seizures, but also to prevent or reverse neurologic loss of function. In general, time is of the essence in diagnosis, and experienced specialists should promptly design a treatment plan...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28017557/epileptic-phenotypes-electroclinical-features-and-clinical-characteristics-in-17-children-with-anti-nmdar-encephalitis
#11
E Haberlandt, M Ensslen, U Gruber-Sedlmayr, B Plecko, M Brunner-Krainz, M Schimmel, S Schubert-Bast, U Neirich, H Philippi, G Kurleman, M Tardieu, G Wohlrab, I Borggraefe, K Rostásy
BACKGROUND: Anti-N-methyl d-aspartate receptor (NMDAR) encephalitis is a rare disorder characterized by seizures, neuropsychiatric symptoms, dyskinesia and autonomic instability. OBJECTIVE: Aim of the present study was to evaluate the seizure phenotypes and electroencephalogram (EEG) features in children with anti-NMDAR encephalitis. METHODS: Seizure types, electroclinical features and clinical characteristics of 17 children with anti-NMDAR encephalitis were analysed in a retrospective case series from nine centres in Europe...
May 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28026006/extended-eeg-and-non-convulsive-status-epilepticus-benefit-over-routine-eeg
#12
E Eskioglou, C Stähli, A O Rossetti, J Novy
OBJECTIVE: EEG monitoring is increasingly used in critically ill patients, but impact on clinical outcome remains unclear. We aimed to investigate the benefit of repeated extended EEG in the prognosis of patients with non-convulsive status epilepticus (SE). MATERIALS & METHODS: We retrospectively collected 29 consecutive patients with non-convulsive SE without coma, who underwent repeated extended EEG between 2013 and 2015. We compared these patients with an historical age-matched group of 58 patients managed between 2011 and 2013 with routine EEG only...
December 27, 2016: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/22962318/epilepsies-in-infancy
#13
REVIEW
Shouja Alam, Andrew L Lux
To evaluate and manage epileptic seizures and other paroxysmal events in infants, it is necessary to ask five key questions: (1) Is this a type of epilepsy?; (2) What seizure type(s) are occurring?; (3) Do these seizure types, combined with factors such as age at onset and EEG features, constitute an 'epilepsy syndrome'?; (4) What investigations do we need to do in searching for an underlying aetiology? and finally, (5) What is the prognosis for neurological and developmental state in later life? This review considers epilepsies that have an onset in infancy but after the perinatal period, outlines the commoner epilepsy syndromes occurring in this age group and describes paroxysmal events that can mimic epilepsy...
November 2012: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27881627/sleep-related-hypermotor-epilepsy-long-term-outcome-in-a-large-cohort
#14
Laura Licchetta, Francesca Bisulli, Luca Vignatelli, Corrado Zenesini, Lidia Di Vito, Barbara Mostacci, Claudia Rinaldi, Irene Trippi, Ilaria Naldi, Giuseppe Plazzi, Federica Provini, Paolo Tinuper
OBJECTIVE: To assess the long-term outcome of sleep-related hypermotor epilepsy (SHE). METHODS: We retrospectively reconstructed a representative cohort of patients diagnosed with SHE according to international diagnostic criteria, sleep-related seizures ≥75% and follow-up ≥5 years. Terminal remission (TR) was defined as a period of ≥5 consecutive years of seizure freedom at the last follow-up. We used Kaplan-Meier estimates to calculate the cumulative time-dependent probability of TR and to generate survival curves...
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/27839653/micrornas-in-epilepsy-pathophysiology-and-clinical-utility
#15
David C Henshall, Hajo M Hamer, R Jeroen Pasterkamp, David B Goldstein, Jørgen Kjems, Jochen H M Prehn, Stephanie Schorge, Kai Lamottke, Felix Rosenow
BACKGROUND: Temporal lobe epilepsy is a common and frequently intractable seizure disorder. Its pathogenesis is thought to involve large-scale alterations to the expression of genes controlling neurotransmitter signalling, ion channels, synaptic structure, neuronal death, gliosis, and inflammation. Identification of mechanisms coordinating gene networks in patients with temporal lobe epilepsy will help to identify novel therapeutic targets and biomarkers. MicroRNAs (miRNAs) are a family of small non-coding RNAs that control the expression levels of multiple proteins by decreasing mRNA stability and translation, and could therefore be key regulatory mechanisms and therapeutic targets in epilepsy...
December 2016: Lancet Neurology
https://www.readbyqxmd.com/read/27765519/the-new-approach-to-classification-of-focal-epilepsies-epileptic-discharge-and-disconnectivity-in-relation-to-cognition
#16
REVIEW
Vera Dinkelacker, Sophie Dupont, Séverine Samson
The new classification of epilepsy stratifies the disease into an acute level, based on seizures, and an overarching chronic level of epileptic syndromes (Berg et al., 2010). In this new approach, seizures are considered either to originate and evolve in unilateral networks or to rapidly encompass both hemispheres. This concept extends the former vision of focal and generalized epilepsies to a genuine pathology of underlying networks. These key aspects of the new classification can be linked to the concept of cognitive curtailing in focal epilepsy...
November 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27721082/ictal-kissing-electroclinical-features-of-an-unusual-ictal-phenomenon
#17
MULTICENTER STUDY
Çiğdem Özkara, Emine Taşkıran, İrem Yıldırım Çarpraz, Erhan Bilir, Aylin Bican Demir, İbrahim Bora, İbrahim Aydoğdu, Şakir Delil, Francine Chassoux
PURPOSE: The study aimed to describe the electroclinical features of ictal kissing, an unusual behavior that may occur during focal seizures. METHOD: Twenty-five patients collected from four epilepsy centers and previously published reports were reviewed for their demographic, clinical, and electrophysiological features. RESULTS: Sixteen of 25 patients were female. The mean age was 32.9 years (9.9-51 years) and the average age at seizure onset was 14...
November 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27696387/cannabidiol-as-a-new-treatment-for-drug-resistant-epilepsy-in-tuberous-sclerosis-complex
#18
Evan J Hess, Kirsten A Moody, Alexandra L Geffrey, Sarah F Pollack, Lauren A Skirvin, Patricia L Bruno, Jan L Paolini, Elizabeth A Thiele
OBJECTIVE: Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder with highly variable expression. The most common neurologic manifestation of TSC is epilepsy, which affects approximately 85% of patients, 63% of whom develop treatment-resistant epilepsy. Herein, we evaluate the efficacy, safety, and tolerability of cannabidiol (CBD), a nonpsychoactive compound derived from the marijuana plant, as an adjunct to current antiepileptic drugs in patients with refractory seizures in the setting of TSC...
October 2016: Epilepsia
https://www.readbyqxmd.com/read/27662337/occipito-frontal-sharp-waves-an-under-recognized-eeg-pattern-in-self-limited-idiopathic-childhood-focal-epilepsy
#19
Elaine Wyllie, Ahsan Nv Moosa
We report four children who highlight the potentially under-recognized EEG pattern of bilaterally synchronous occipito-frontal sharp waves, which may occur in children with Panayiotopoulos-type self-limited childhood epilepsy but may be easily confused with the patterns of symptomatic generalized epilepsy. Our patients were young, healthy children who had infrequent, predominantly nocturnal, fairly prolonged seizures characterized by altered consciousness, vomiting, and autonomic features, or in one case nocturnal secondary generalized tonic clonic convulsion...
September 16, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/27647155/implementation-of-a-neurocritical-care-program-improved-seizure-detection-and-decreased-antiseizure-medication-at-discharge-in-neonates-with-hypoxic-ischemic-encephalopathy
#20
Rani Ameena Bashir, Liza Espinoza, Sakeer Vayalthrikkovil, Jeffrey Buchhalter, Leigh Irvine, Luis Bello-Espinosa, Khorshid Mohammad
BACKGROUND: We report the impact of implementing continuous video electroencephalography monitoring for neonates with hypoxic-ischemic encephalopathy via a protocol in the context of neonatal neuro-critical care program. METHODS: Neonates with hypoxic-ischemic encephalopathy were studied retrospectively two years before and after implementing continuous video electroencephalography for 72 hours as a care protocol. Before continuous video electroencephalography, a 60-minute routine electroencephalography was performed at the discretion of the provider...
November 2016: Pediatric Neurology
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