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https://www.readbyqxmd.com/read/28806589/novel-clinical-manifestations-in-patients-with-kcna2-mutations
#1
Monisha Sachdev, Marina Gaínza-Lein, Dmitry Tchapyjnikov, Yong-Hui Jiang, Tobias Loddenkemper, Mohamad A Mikati
PURPOSE: To report novel clinical manifestations of KCNA2 mutation related epileptic encephalopathy. METHODS: Blood samples were sent for whole exome and Sanger sequencing. Seizure types were characterized by clinical criteria and EEG recording. RESULTS: KCNA2 mutations have been reported in 10 cases who presented with focal, absence, generalized tonic-clonic or myoclonic astatic seizures. Here we describe 3 patients with previously unreported, more severe manifestations...
August 5, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28799513/ketogenic-diets-in-the-treatment-of-epilepsy
#2
Maurizio Elia, Joerg Klepper, Baerbel Leiendecker, Hans Hartmann
BACKGROUND: Although a larger number of antiepileptic drugs became available in the last decades, epilepsy remains drug-resistant in approximately a third of patients. Ketogenic diet (KD), first proposed at the beginning of the last century, is complex and has anticonvulsant effects, yet not completely understood. Over the last decades, different types of ketogenic diets (KDs) have been developed, namely classical KD and modified Atkins diet (MAD). They offer an effective alternative for children and adults with drug-resistant epilepsies...
August 9, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28743048/the-ketogenic-diet-in-patients-with-myoclonic-status-in-non-progressive-encephalopathy
#3
Roberto Caraballo, Francesca Darra, Gabriela Reyes, Marisa Armeno, Araceli Cresta, Graciela Mestre, Bernardo Dalla Bernardina
Myoclonic status in non-progressive encephalopathy (MSNPE) is characterized by the recurrence of long-lasting atypical status epilepticus associated with attention impairment and continuous polymorphous jerks, mixed with other complex abnormal movements, in infants suffering from a non-progressive encephalopathy. The ketogenic diet (KD) has been used as an alternative to antiepileptic drugs (AEDs) for patients with refractory epileptic encephalopathies. PURPOSE: In this study we assess the efficacy and tolerability of the KD in patients with MSNPE...
July 11, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28721058/clinical-patterns-and-outcomes-of-status-epilepticus-in-patients-with-tuberous-sclerosis-complex
#4
Hatem S Shehata, Hadeer Mahmoud AbdelGhaffar, Mohammed Nasreldin, Alaa Elmazny, Ahmed Abdelalim, Asmaa Sabbah, Nevin M Shalaby
INTRODUCTION: Refractory epilepsy is a common clinical manifestation in patients with tuberous sclerosis complex (TSC), which can be complicated by many life-threatening conditions, such as status epilepticus (SE). However, very few reports mention the patterns and semiology of SE in those patients. OBJECTIVE: To study the clinical characteristics and outcomes of SE in TSC patients. MATERIALS AND METHODS: This observational, prospective study was carried out on 36 Egyptian children with definite TSC...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28716058/srf-modulates-seizure-occurrence-activity-induced-gene-transcription-and-hippocampal-circuit-reorganization-in-the-mouse-pilocarpine-epilepsy-model
#5
Pascal Lösing, Cristina Elena Niturad, Merle Harrer, Christopher Meyer Zu Reckendorf, Theresa Schatz, Daniela Sinske, Holger Lerche, Snezana Maljevic, Bernd Knöll
A hallmark of temporal lobe epilepsy (TLE) is hippocampal neuronal demise and aberrant mossy fiber sprouting. In addition, unrestrained neuronal activity in TLE patients induces gene expression including immediate early genes (IEGs) such as Fos and Egr1.We employed the mouse pilocarpine model to analyze the transcription factor (TF) serum response factor (SRF) in epileptogenesis, seizure induced histopathology and IEG induction. SRF is a neuronal activity regulated TF stimulating IEG expression as well as nerve fiber growth and guidance...
July 17, 2017: Molecular Brain
https://www.readbyqxmd.com/read/28601603/enhanced-classical-complement-pathway-activation-and-altered-phagocytosis-signaling-molecules-in-human-epilepsy
#6
Season K Wyatt, Thomas Witt, Nicholas M Barbaro, Aaron A Cohen-Gadol, Amy L Brewster
Microglia-mediated neuroinflammation is widely associated with seizures and epilepsy. Although microglial cells are professional phagocytes, less is known about the status of this phenotype in epilepsy. Recent evidence supports that phagocytosis-associated molecules from the classical complement (C1q-C3) play novel roles in microglia-mediated synaptic pruning. Interestingly, in human and experimental epilepsy, altered mRNA levels of complement molecules were reported. Therefore, to identify a potential role for complement and microglia in the synaptodendritic pathology of epilepsy, we determined the protein levels of classical complement proteins (C1q-C3) along with other phagocytosis signaling molecules in human epilepsy...
September 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28555777/early-ictal-and-interictal-patterns-in-fires-the-sparks-before-the-blaze
#7
Raquel Farias-Moeller, Luca Bartolini, Katelyn Staso, John M Schreiber, Jessica L Carpenter
OBJECTIVE: Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy described as explosive onset of super refractory status epilepticus (SRSE) in previously healthy children. We describe electroencephalography (EEG) abnormalities in the hyperacute phase of FIRES, with the aim of contributing to the diagnostic characterization of a syndrome otherwise lacking specific biomarkers. METHODS: This is a retrospective single-center, case series of seven children with FIRES...
August 2017: Epilepsia
https://www.readbyqxmd.com/read/28480502/enriched-environment-attenuates-behavioral-seizures%C3%A2-and-depression-in-chronic%C3%A2-temporal-lobe-epilepsy
#8
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...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28461248/simultaneous-triple-therapy-for-the-treatment-of-status-epilepticus
#9
Jerome Niquet, Roger Baldwin, Keith Norman, Lucie Suchomelova, Lucille Lumley, Claude G Wasterlain
Early maladaptive internalization of synaptic GABAA receptors (GABAAR) and externalization of NMDA receptors (NMDAR) may explain the time-dependent loss of potency of standard anti-epileptic drugs (AED) in refractory status epilepticus (SE). We hypothesized that correcting the effects of changes in GABAAR and NMDAR would terminate SE, even when treatment is delayed 40 minutes. SE was induced in adult Sprague-Dawley rats with a high dose of lithium and pilocarpine. The GABAAR agonist midazolam, the NMDAR antagonist ketamine and the AED valproate were injected 40 min after SE onset in combination or as monotherapy...
August 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28445601/status-epilepticus-in-dogs-and-cats-part-2-treatment-monitoring-and-prognosis
#10
Susan Blades Golubovic, John H Rossmeisl
OBJECTIVE: To discuss current anticonvulsant drug options and advances in treatment of status epilepticus (SE) and to review the prognosis associated with SE. TREATMENT: When treating a patient with SE, the main goals are to halt seizure activity, prevent further seizures, identify the cause of the seizures, and manage any complications. The veterinary literature indicates that benzodiazepines are the most common class of drugs used for the initial treatment of SE...
May 2017: Journal of Veterinary Emergency and Critical Care
https://www.readbyqxmd.com/read/28338446/the-use-of-hippocampal-volumetric-measurements-to-improve-diagnostic-accuracy-in-pediatric-patients-with-mesial-temporal-sclerosis
#11
Gloria J Guzmán Pérez-Carrillo, Christopher Owen, Katherine E Schwetye, Spencer McFarlane, Ananth K Vellimana, Soe Mar, Michelle M Miller-Thomas, Joshua S Shimony, Matthew D Smyth, Tammie L S Benzinger
OBJECTIVE Many patients with medically intractable epilepsy have mesial temporal sclerosis (MTS), which significantly affects their quality of life. The surgical excision of MTS lesions can result in marked improvement or even complete resolution of the epileptic episodes. Reliable radiological diagnosis of MTS is a clinical challenge. The purpose of this study was to evaluate the utility of volumetric mapping of the hippocampi for the identification of MTS in a case-controlled series of pediatric patients who underwent resection for medically refractory epilepsy, using pathology as a gold standard...
March 24, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28245506/should-posterior-reversible-encephalopathy-syndrome-be-mainly-considered-an-epileptic-disorder-results-of-a-sequential-neurophysiological-study-in-a-pediatric-cohort
#12
Daniele Grioni, Fabio Pavan, Giulia Prunotto, Francesco Canonico, Carlo de Grandi, Attilio Rovelli
Despite a wide number of studies trying to define clinical, physiopathological, and neuroradiological features of posterior reversible encephalopathy syndrome (PRES), the true nature of symptoms is still not fully understood. We studied a standard cohort of 24 pediatric patients, affected by hemato-oncological diseases, with a neuroradiological diagnosis consistent with PRES identified from 2006 to 2013. Ten of them developed PRES after hematopoietic stem cell transplantation. We analyzed the sequence of clinical, radiological, and electrophysiological data...
April 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28207600/advancements-in-the-critical-care-management-of-status-epilepticus
#13
Andrew Bauerschmidt, Andrew Martin, Jan Claassen
PURPOSE OF REVIEW: Status epilepticus has a high morbidity and mortality. There are little definitive data to guide management; however, new recent data continue to improve understanding of management options of status epilepticus. This review examines recent advancements regarding the critical care management of status epilepticus. RECENT FINDINGS: Recent studies support the initial treatment of status epilepticus with early and aggressive benzodiazepine dosing...
April 2017: Current Opinion in Critical Care
https://www.readbyqxmd.com/read/28190433/seizures-in-the-critically-ill
#14
REVIEW
J Ch'ang, J Claassen
Critically ill patients with seizures are either admitted to the intensive care unit because of uncontrolled seizures requiring aggressive treatment or are admitted for other reasons and develop seizures secondarily. These patients may have multiorgan failure and severe metabolic and electrolyte disarrangements, and may require complex medication regimens and interventions. Seizures can be seen as a result of an acute systemic illness, a primary neurologic pathology, or a medication side-effect and can present in a wide array of symptoms from convulsive activity, subtle twitching, to lethargy...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28167116/therapeutic-potential-of-an-anti-high-mobility-group-box-1-monoclonal-antibody-in-epilepsy
#15
Junli Zhao, Yi Wang, Cenglin Xu, Keyue Liu, Ying Wang, Liying Chen, Xiaohua Wu, Feng Gao, Yi Guo, Junming Zhu, Shuang Wang, Masahiro Nishibori, Zhong Chen
Brain inflammation is a major factor in epilepsy, and the high mobility group box-1 (HMGB1) protein is known to contribute significantly to the generation of seizures. Here, we investigated the therapeutic potential of an anti-HMGB1 monoclonal antibody (mAb) in epilepsy. anti-HMGB1 mAb attenuated both acute seizure models (maximal electroshock seizure, pentylenetetrazole-induced and kindling-induced), and chronic epilepsy model (kainic acid-induced) in a dose-dependent manner. Meanwhile, the anti-HMGB1 mAb also attenuated seizure activities of human brain slices obtained from surgical resection from drug-resistant epilepsy patients...
February 3, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28157601/prognostic-factors-in-patients-with-refractory-idiopathic-generalized-epilepsy
#16
A Gomez-Ibañez, R S McLachlan, S M Mirsattari, D C Diosy, J G Burneo
OBJECTIVE: Idiopathic generalized epilepsy (IGE) is an epileptic condition with good response to antiepileptic drugs (AED). Major syndromes are epilepsy with generalized tonic-clonic seizures (GTCS) alone, absence epilepsy and juvenile myoclonic epilepsy. However, clinical practice shows drug-resistant patients. Endpoint is to identify clinical features related with refractoriness in IGE and in its each individual syndrome. METHODS: We retrospectively collected 279 consecutive patients with IGE assessed in the Epilepsy Clinic of our institution...
February 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28067423/current-standards-of-neuropsychological-assessment-in-epilepsy-surgery-centers-across-europe
#17
Viola Lara Vogt, Marja Äikiä, Antonio Del Barrio, Paul Boon, Csaba Borbély, Ema Bran, Kees Braun, Evelien Carette, Maria Clark, Judith Helen Cross, Petia Dimova, Daniel Fabo, Nikolaos Foroglou, Stefano Francione, Anna Gersamia, Antonio Gil-Nagel, Alla Guekht, Sue Harrison, Hrvoje Hecimovic, Einar Heminghyt, Edouard Hirsch, Alena Javurkova, Reetta Kälviäinen, Nicole Kavan, Anna Kelemen, Vasilios K Kimiskidis, Margarita Kirschner, Catherine Kleitz, Teia Kobulashvili, Mary H Kosmidis, Selin Yagci Kurtish, Mathieu Lesourd, Sofia Ljunggren, Morten Ingvar Lossius, Kristina Malmgren, Ruta Mameniskiené, Patricia Martin-Sanfilippo, Petr Marusic, Marijke Miatton, Çiğdem Özkara, Federica Pelle, Guido Rubboli, Sarah Rudebeck, Philippe Ryvlin, Monique van Schooneveld, Elisabeth Schmid, Pia-Magdalena Schmidt, Margitta Seeck, Bernhard J Steinhoff, Sara Shavel-Jessop, Oana Tarta-Arsene, Eugen Trinka, Gerd Viggedal, Anne-Sophie Wendling, Juri-Alexander Witt, Christoph Helmstaedter
We explored the current practice with respect to the neuropsychological assessment of surgical epilepsy patients in European epilepsy centers, with the aim of harmonizing and establishing common standards. Twenty-six epilepsy centers and members of "E-PILEPSY" (a European pilot network of reference centers in refractory epilepsy and epilepsy surgery), were asked to report the status of neuropsychological assessment in adults and children via two different surveys. There was a consensus among these centers regarding the role of neuropsychology in the presurgical workup...
March 2017: Epilepsia
https://www.readbyqxmd.com/read/27919115/febrile-infection-related-epilepsy-syndrome-clinical-review-and-hypotheses-of-epileptogenesis
#18
REVIEW
Andreas van Baalen, Annamaria Vezzani, Martin Häusler, Gerhard Kluger
Febrile infection-related epilepsy syndrome (FIRES, AERRPS, or DESC) is one of the most severe, mostly irreversible, and presumably immune-mediated epileptic encephalopathies affecting healthy children. Refractory status epilepticus or a cluster of seizures start a few days after the onset of an acute febrile illness; however, encephalitis cannot be proved. Sequelae of FIRES are drug-resistant epilepsy and neuropsychological impairments occurring without latency. Clinical knowledge is limited because FIRES is sporadic and extremely rare...
February 2017: Neuropediatrics
https://www.readbyqxmd.com/read/27916757/-efficacy-and-safety-of-levetiracetam-as-an-add-on-therapy-for-symptomatic-refractory-epilepsy-treated-in-a-department-of-neurosurgery
#19
Keiko Suzuki, Tomoyuki Kawataki, Hiroki Sato, Masakazu Ogiwara, Hiroyuki Kinouchi
The number of patients who suffer from symptomatic partial epilepsy is significant, and those who undergo neurosurgery often experience refractory seizures. Levetiracetam (LEV) is a new-generation anti epileptic drug (AED). Previous studies have shown that LEV has favorable efficacy and a good safety profile with few drug interactions, as it has a unique pharmacological mechanism and acts on synaptic vesicle protein. This study aimed at estimate the efficacy and safety of 1,000 to 2,000 mg/day of LEV as an add-on therapy for refractory symptomatic seizures treated in the department of neurosurgery of our hospital...
December 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27854088/long-term-and-strong-immunotherapy-to-treat-anti-n-methyl-d-aspartate-receptor-encephalitis-with-refractory-status-epilepticus
#20
Lan-Hsin Lee, Chien-Jung Lu
BACKGROUND: Anti-N-Methyl-D-Aspartate receptor (anti-NMDAR) encephalitis is responsive to immunotherapy and removal of tumor, but there is no consensus in the treatment of severe anti- NMDAR encephalitis with prolonged refractory status epilepticus (SE). CASE REPORT: A 17-year-old girl presented as acute psychosis, refractory seizures, hyperkinesia, autonomic instability, and soon progressed to a dissociative state of coma. Anti-NMDAR antibodies were positive in serum and CSF...
September 15, 2016: Acta Neurologica Taiwanica
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