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Refractory epilepsy

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https://www.readbyqxmd.com/read/27919115/febrile-infection-related-epilepsy-syndrome-clinical-review-and-hypotheses-of-epileptogenesis
#1
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...
December 5, 2016: 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
#2
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/27915111/clinical-outcomes-of-perampanel-vs-lacosamide-in-cohorts-of-consecutive-patients-with-severely-refractory-epilepsies-a-monocentric-retrospective-analysis-of-systematically-collected-data-from-the-german-kork-epilepsy-center
#3
Christoph Kurth, Edgar Kockelmann, Bernhard J Steinhoff
PURPOSE: Perampanel (PER) and lacosamide (LCM) are antiepileptic drugs (AEDs) approved for the adjunctive treatment of partial-onset seizures. At the time of market entry, information on clinical effectiveness of new AEDs is limited to results from pivotal trials, real-life or comparative data are missing. This analysis of data collected retrospectively in a German epilepsy center used unified evaluation criteria, and describes treatment outcomes with LCM and PER at 6 months. METHODS: Results of the first 70 consecutive patients who had received LCM or PER after their market entries in Germany were compared...
November 23, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27913086/punctate-white-matter-lesions-in-full-term-infants-with-neonatal-seizures-associated-with-slc13a5-mutations
#4
Lauren C Weeke, Eva Brilstra, Kees P Braun, Evelien Zonneveld-Huijssoon, Gajja S Salomons, Bobby P Koeleman, Koen L van Gassen, Henrica L van Straaten, Dana Craiu, Linda S de Vries
INTRODUCTION: Early-onset epileptic encephalopathy caused by biallelic SLC13A5 mutations is characterized by seizure onset in the first days of life, refractory epilepsy and developmental delay. Little detailed information about the brain MRI features is available in these patients. METHODS: Observational study describing the neuro-imaging findings in eight patients (five families) with mutations in the SLC13A5 gene. Seven infants had an MRI in the neonatal period, two had a follow-up MRI at the age of 6 and 18 months and one only at 13 months...
November 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27912169/non-harmonicity-in-high-frequency-components-of-the-intra-operative-corticogram-to-delineate-epileptogenic-tissue-during-surgery
#5
Evelien E Geertsema, Maryse A van 't Klooster, Nicole E C van Klink, Frans S S Leijten, Peter C van Rijen, Gerhard H Visser, Stiliyan N Kalitzin, Maeike Zijlmans
OBJECTIVE: We aimed to test the potential of auto-regressive model residual modulation (ARRm), an artefact-insensitive method based on non-harmonicity of the high-frequency signal, to identify epileptogenic tissue during surgery. METHODS: Intra-operative electrocorticography (ECoG) of 54 patients with refractory focal epilepsy were recorded pre- and post-resection at 2048Hz. The ARRm was calculated in one-minute epochs in which high-frequency oscillations (HFOs; fast ripples, 250-500Hz; ripples, 80-250Hz) and spikes were marked...
November 17, 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27912111/can-ictal-meg-obviate-the-need-for-phase-ii-monitoring-in-people-with-drug-refractory-epilepsy-a-prospective-observational-study
#6
Bhargavi Ramanujam, Kamal Bharti, Vibhin Viswanathan, Ajay Garg, Madhavi Tripathi, Chandrashekhar Bal, P Sarat Chandra, Manjari Tripathi
PURPOSE: To determine if ictal-magnetoencephalography (ictal-MEG) source localization (SL) added information towards delineating the ictal-onset zone (IOZ), whether and how it helped final decision-making in epilepsy-surgery. METHODS: Definite focal clusters on ictal-MEG were available for 32 DRE-patients, data was analyzed (single equivalent current dipole (ECD) model), SL done. Clinical history, long-term video-EEG (VEEG) monitoring, epilepsy-protocol MRI, FDG-PET, ictal-SPECT and interictal-MEG were discussed at the multispeciality Epilepsy Surgery Case-conference (ESC)...
October 31, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27905012/microbial-proteins-as-novel-industrial-biotechnology-hosts-to-treat-epilepsy
#7
REVIEW
Zareen Amtul, Amal A Aziz
Epilepsy is characterized by the hyperexcitability of various neuronal circuits that results due to the imbalance between glutamate-mediated excitation of voltage-gated cation channels and γ-amino butyric acid (GABA)-mediated inhibition of anion channels leading to aberrant, sporadic oscillations or fluctuations in neuronal electrical activity. Epilepsy with a risk of mortality and around 65 million sufferers of all ages all over the world is limited therapeutically with high rates of adverse reactions, lack of complete seizure control, and over 30% patients with refractory epilepsy...
December 1, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27903967/new-differentially-expressed-genes-and-differential-dna-methylation-underlying-refractory-epilepsy
#8
Xi Liu, Shu Ou, Tao Xu, Shiyong Liu, Jinxian Yuan, Hao Huang, Lu Qin, Hui Yang, Lifen Chen, Xinjie Tan, Yangmei Chen
Epigenetics underlying refractory epilepsy is poorly understood, especially in patients without distinctive genetic alterations. DNA methylation may affect gene expression in epilepsy without affecting DNA sequences. Herein, we analyzed genome-wide DNA methylation and gene expression in brain tissues of 10 patients with refractory epilepsy using methylated DNA immunoprecipitation linked with sequencing and mRNA Sequencing. Diverse distribution of differentially methylated genes was found in X chromosome, while differentially methylated genes appeared rarely in Y chromosome...
November 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#9
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27891419/evaluation-of-hospitalized-intractable-epileptic-children-with-spect-scan-in-ahvaz-south-west-of-iran
#10
Ali Akbar Momen, Faramarz Ahmadi, Arash Malekian, Hannaneh Davoodzadeh, Hossein Kabirinia
INTRODUCTION: Seizures are the most frequent neurologic disorder seen in childhood. Epilepsy is a group of disorders that includes an abnormally increased susceptibility to seizures. AIM: To examine the effectiveness of SPECT (Single Photon Emission Computerized Tomography) in detecting seizure foci in 21 Iranian children who had medically refractory epilepsy. MATERIALS AND METHODS: Children between 2 to 15 years of age with uncontrolled seizures were investigated using SPECT scan as a standardized protocol...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27889242/benign-mesial-temporal-lobe-epilepsy-a-clinical-cohort-and-literature-review
#11
REVIEW
Amal AlQassmi, Jorge G Burneo, Richard S McLachlan, Seyed M Mirsattari
OBJECTIVE: We present a single-center retrospective study of benign mesial temporal lobe epilepsy (bMTLE) between 1995 and 2014. METHODS: Hospital records and clinic charts were reviewed. The clinical, Eelectroencephalographic (EEG), imaging features, and response to treatment with antiepileptic drugs (AEDs) were documented. Patients were included in this study if they were seizure-free for a minimum of 24months with or without an AED. RESULTS: Twenty-seven patients were identified...
November 23, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27888520/identifying-the-epileptogenic-zone-in-interictal-resting-state-meg-source-space-networks
#12
Ida A Nissen, Cornelis J Stam, Jaap C Reijneveld, Ilse E C W van Straaten, Eef J Hendriks, Johannes C Baayen, Philip C De Witt Hamer, Sander Idema, Arjan Hillebrand
OBJECTIVE: In one third of patients, seizures remain after epilepsy surgery, meaning that improved preoperative evaluation methods are needed to identify the epileptogenic zone. A potential framework for such a method is network theory, as it can be applied to noninvasive recordings, even in the absence of epileptiform activity. Our aim was to identify the epileptogenic zone on the basis of hub status of local brain areas in interictal magnetoencephalography (MEG) networks. METHODS: Preoperative eyes-closed resting-state MEG recordings were retrospectively analyzed in 22 patients with refractory epilepsy, of whom 14 were seizure-free 1 year after surgery...
November 26, 2016: Epilepsia
https://www.readbyqxmd.com/read/27885946/epilepsy-surgery-in-patients-with-autism
#13
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
#14
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/27882298/high-frequency-oscillations-and-high-frequency-functional-network-characteristics-in-the-intraoperative-electrocorticogram-in-epilepsy
#15
W J E M Zweiphenning, M A van 't Klooster, E van Diessen, N E C van Klink, G J M Huiskamp, T A Gebbink, F S S Leijten, P H Gosselaar, W M Otte, C J Stam, K P J Braun, G J M Zijlmans
OBJECTIVE: High frequency oscillations (HFOs; > 80 Hz), especially fast ripples (FRs, 250-500 Hz), are novel biomarkers for epileptogenic tissue. The pathophysiology suggests enhanced functional connectivity within FR generating tissue. Our aim was to determine the relation between brain areas showing FRs and 'baseline' functional connectivity within EEG networks, especially in the high frequency bands. METHODS: We marked FRs, ripples (80-250 Hz) and spikes in the electrocorticogram of 14 patients with refractory temporal lobe epilepsy...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27875923/age-of-onset-of-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis-the-effect-of-apolipoprotein-e-and-febrile-seizures
#16
Bárbara Leal, João Chaves, Cláudia Carvalho, Andreia Bettencourt, Joel Freitas, João Lopes, João Ramalheira, Paulo P Costa, Denisa Mendonça, António M Silva, Berta M Silva
PURPOSE: Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS) is the most frequent pharmaco-resistant epilepsy. It has been associated with febrile seizures (FS) in childhood. Its aetiology remains unclear but genetic factors are involved. Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory function, influences neurotransmission and it is involved in repairing damaged neurons. ApoEϵ4 is an isoform of ApoE with altered protein function, previously associated with refractoriness and early onset epilepsy...
November 22, 2016: International Journal of Neuroscience
https://www.readbyqxmd.com/read/27867041/infantile-epileptic-encephalopathy-associated-with-scn2a-mutation-responsive-to-oral-mexiletine
#17
Laura A Foster, Maria R Johnson, John T MacDonald, Peter I Karachunski, Thomas R Henry, David R Nascene, Brian P Moran, Gerald V Raymond
BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy. METHOD: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation...
October 18, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27866705/epileptic-encephalopathy-caused-by-mutations-in-the-guanine-nucleotide-exchange-factor-dennd5a
#18
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/27864929/temporal-lobe-epilepsy-and-focal-cortical-dysplasia-in-children-a-tip-to-find-the-abnormality
#19
Luca Bartolini, Matthew T Whitehead, Cheng-Ying Ho, Leigh N Sepeta, Chima O Oluigbo, Kathryn Havens, Emily R Freilich, John M Schreiber, William D Gaillard
OBJECTIVE: To demonstrate an association between magnetic resonance imaging (MRI) findings and pathologic characteristics in children who had surgery for medically refractory epilepsy due to focal cortical dysplasia (FCD). METHODS: We retrospectively studied 110 children who had epilepsy surgery. Twenty-seven patients with FCD were included. Thirteen had temporal lobe epilepsy (TLE) and 14 had extra-temporal lobe epilepsy (ETLE). Three patients had associated mesial temporal sclerosis...
November 16, 2016: Epilepsia
https://www.readbyqxmd.com/read/27861502/abnormal-profiles-of-local-functional-connectivity-proximal-to-focal-cortical-dysplasias
#20
René M H Besseling, Jacobus F A Jansen, Anton J A de Louw, Mariëlle C G Vlooswijk, M Christianne Hoeberigs, Albert P Aldenkamp, Walter H Backes, Paul A M Hofman
INTRODUCTION: Focal cortical dysplasia (FCD) is a congenital malformation of cortical development that often leads to medically refractory epilepsy. Focal resection can be an effective treatment, but is challenging as the surgically relevant abnormality may exceed the MR-visible lesion. The aim of the current study is to develop methodology to characterize the profile of functional connectivity around FCDs using resting-state functional MRI and in the individual patient. The detection of aberrant connectivity may provide a means to more completely delineate the clinically relevant lesion...
2016: PloS One
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