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Epilepsy

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34 papers 0 to 25 followers
https://www.readbyqxmd.com/read/28330972/fatal-cerebral-edema-with-status-epilepticus-in-children-with-dravet-syndrome-report-of-5-cases
#1
Kenneth A Myers, Jacinta M McMahon, Simone A Mandelstam, Mark T Mackay, Renate M Kalnins, Richard J Leventer, Ingrid E Scheffer
Dravet syndrome (DS) is a well-recognized developmental and epileptic encephalopathy associated with SCN1A mutations and 15% mortality by 20 years. Although over half of cases succumb to sudden unexpected death in epilepsy, the cause of death in the remainder is poorly defined. We describe the clinical, radiologic, and pathologic characteristics of a cohort of children with DS and SCN1A mutations who developed fatal cerebral edema causing mass effect after fever-associated status epilepticus. Cases were identified from a review of children with DS enrolled in the Epilepsy Genetics Research Program at The University of Melbourne, Austin Health, who died after fever-associated status epilepticus...
April 2017: Pediatrics
https://www.readbyqxmd.com/read/29191650/cortical-language-areas-and-plasticity-in-pediatric-patients-with-epilepsy-a-review
#2
REVIEW
Naomi Chou, Sandra Serafini, Carrie R Muh
Chronic injury to the brain from seizure activity is associated with decreased language skills in pediatric patients, as measured on neuropsychological tests for language function and academic achievement. This makes the study of language in patients with epilepsy clinically necessary. Functional magnetic resonance imaging and direct electrical cortical stimulation have been used to evaluate aspects of cortical language processing in healthy adults and in adults with epilepsy or other neurological insults. Results of these studies help to locate cortical language areas that are involved with modality-specific language processing (visual naming, auditory naming, sentence-completion, and repetition) and the neuroplasticity of language areas in the setting of neurological injury and reorganization...
October 12, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/20722665/doose-syndrome-myoclonic-astatic-epilepsy-40-years-of-progress
#3
REVIEW
Sarah A Kelley, Eric H Kossoff
Doose syndrome, otherwise traditionally known as myoclonic-astatic epilepsy, was first described as a unique epilepsy syndrome by Dr Hermann Doose in 1970. In 1989, the International League Against Epilepsy classified it formally as a symptomatic generalized epilepsy, and 20 years later it was renamed 'epilepsy with myoclonic-atonic seizures'. In this review, we discuss the components of this unique disorder including its incidence, clinical features, and electroencephalographic findings. Recent evidence has suggested possible genetic links to the GEFS+ (generalized epilepsy with febrile seizures plus) family, and, additionally, some children with structural brain lesions can mimic the Doose syndrome phenotype...
November 2010: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28628937/the-epilepsy-aphasia-spectrum-from-landau-kleffner-syndrome-to-rolandic-epilepsy
#4
Bigna Katrin Bölsterli Heinzle
No abstract text is available yet for this article.
December 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28987170/neuropathology-of-epilepsy
#5
Eleonora Aronica, Angelika Mühlebner
Epilepsy is one of the most common neurologic disorders, affecting about 50 million people worldwide. The disease is characterized by recurrent seizures, which are due to aberrant neuronal networks resulting in synchronous discharges. The term epilepsy encompasses a large spectrum of syndromes and diseases with different etiopathogenesis. The recent development of imaging and epilepsy surgery techniques is now enabling the identification of structural abnormalities that are part of the epileptic network, and the removal of these lesions may result in control of seizures...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28880996/dravet-syndrome-and-its-mimics-beyond-scn1a
#6
REVIEW
Dora Steel, Joseph D Symonds, Sameer M Zuberi, Andreas Brunklaus
OBJECTIVE: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving to drug-resistant epilepsy with accompanying cognitive, behavioral, and motor impairment. Most cases are now known to be caused by pathogenic variants in the sodium channel gene SCN1A, but several other genes have also been implicated. This review examines current understanding of the role of non-SCN1A genes in DS, and what is known about phenotypic similarities and differences...
November 2017: Epilepsia
https://www.readbyqxmd.com/read/28884208/lacosamide-treatment-of-childhood-refractory-focal-epilepsy-the-first-reported-side-effect-in-paediatric-patients
#7
Edibe Pembegul Yildiz, Melis Ulak Ozkan, Gonca Bektas, Tuğçe Aksu Uzunhan, Nur Aydinli, Mine Caliskan, Meral Ozmen
PURPOSE: Lacosamide (LCM) is an effective antiepileptic drug (AED) approved for the treatment of focal epilepsy in both children and adults. The aim of this observational study was to review our centre's experience with LCM and to characterise its efficacy and tolerability as an adjunct therapy in children with refractory focal epilepsy. METHODS: We retrospectively reviewed the medical records of 12 paediatric patients who underwent treatment with LCM from January 2014 to December 2015...
November 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28892741/effect-of-diet-with-omega-3-in-basal-brain-electrical-activity-and-during-status-epilepticus-in-rats
#8
Daniella Tavares Pessoa, Eva Luana Almeida da Silva, Edbhergue Ventura Lola Costa, Romildo Albuquerque Nogueira
Western diets are high in saturated fat and low in omega-3. Certain animals cannot produce omega-3 from their own lipids, making it necessary for it to be acquired from the diet. However, omega-3s are important components of the plasma membrane, and altering their proportions can promote physical and chemical alterations in the membranes, which may modify neuronal excitability. These alterations occur in healthy individuals, as well as in patients with epilepsy who are more sensitive to changes in brain electrical activity...
September 1, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28811058/early-detection-of-tuberous-sclerosis-complex-an-opportunity-for-improved-neurodevelopmental-outcome
#9
Clara W T Chung, John A Lawson, Vanessa Sarkozy, Kate Riney, Orli Wargon, Antonia W Shand, Stephen Cooper, Harrison King, Sean E Kennedy, David Mowat
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures...
May 26, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28673029/predictive-factors-of-surgical-outcome-in-frontal-lobe-epilepsy-explored-with-stereoelectroencephalography
#10
Francesca Bonini, Aileen McGonigal, Didier Scavarda, Romain Carron, Jean Régis, Henry Dufour, Jean-Claude Péragut, Virginie Laguitton, Nathalie Villeneuve, Patrick Chauvel, Bernard Giusiano, Agnès Trébuchon, Fabrice Bartolomei
BACKGROUND: Resective surgery established treatment for pharmacoresistant frontal lobe epilepsy (FLE), but seizure outcome and prognostic indicators are poorly characterized and vary between studies. OBJECTIVE: To study long-term seizure outcome and identify prognostic factors. METHODS: We retrospectively analyzed 42 FLE patients having undergone surgical resection, mostly preceded by invasive recordings with stereoelectroencephalography (SEEG)...
June 29, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28025397/lingual-epilepsia-partialis-continua-in-neurocysticercosis
#11
Sachin Sureshbabu, Dinesh Nayak, Gaurav Mittal, Sudhir Peter, Chindripu Sobhana, Vikash Aggarwal
No abstract text is available yet for this article.
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/28284393/epilepsy-in-inborn-errors-of-metabolism-with-therapeutic-options
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
August 2017: Journal of Neurology
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