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Intractable epilepsy

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https://www.readbyqxmd.com/read/28215400/somatic-mutations-in-tsc1-and-tsc2-cause-focal-cortical-dysplasia
#1
Jae Seok Lim, Ramu Gopalappa, Se Hoon Kim, Suresh Ramakrishna, Minji Lee, Woo-Il Kim, Junho Kim, Sang Min Park, Junehawk Lee, Jung-Hwa Oh, Heung Dong Kim, Chang-Hwan Park, Joon Soo Lee, Sangwoo Kim, Dong Seok Kim, Jung Min Han, Hoon-Chul Kang, Hyongbum Henry Kim, Jeong Ho Lee
Focal cortical dysplasia (FCD) is a major cause of the sporadic form of intractable focal epilepsies that require surgical treatment. It has recently been reported that brain somatic mutations in MTOR account for 15%-25% of FCD type II (FCDII), characterized by cortical dyslamination and dysmorphic neurons. However, the genetic etiologies of FCDII-affected individuals who lack the MTOR mutation remain unclear. Here, we performed deep hybrid capture and amplicon sequencing (read depth of 100×-20,012×) of five important mTOR pathway genes-PIK3CA, PIK3R2, AKT3, TSC1, and TSC2-by using paired brain and saliva samples from 40 FCDII individuals negative for MTOR mutations...
February 12, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28211120/the-effect-of-sevoflurane-on-electrocorticographic-spike-activity-in-pediatric-patients-with-epilepsy
#2
Shigekazu Tanaka, Yutaka Oda, Masayoshi Ryokai, Takehiro Uda, Noritsugu Kunihiro, Ichiro Kuki, Ryu Okutani
BACKGROUND: Electrocorticogram (ECoG) spike activity is enhanced under general anesthesia with 1.5 minimum alveolar concentration (MAC) sevoflurane compared with lower concentrations in adult patients with epilepsy. However, the effect of concentration of sevoflurane on ECoG in children with epilepsy is less known. AIMS: The primary endpoint was to investigate the effects of sevoflurane on ECoG spike activity in pediatric patients undergoing epilepsy surgery. The secondary endpoint was to examine its effects on baseline ECoG including burst suppression...
February 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28203347/killing-two-birds-with-one-stone-successful-opioid-monotherapy-in-intractable-migraine-triggered-epilepsy-a-case-series
#3
REVIEW
Iraj Derakhshan
The novel concept explored in this case series is the primacy of headaches in generating seizures in those patients who suffer from migraine-triggered epilepsy. In this series, once the migraine headaches were fully suppressed, via daily scheduled opioid therapy, the seizures also stopped. Seizures returned, however, after the patients stopped the opiate regimen for any reason. The above pharmacological scenario is reminiscent of a similar but naturalistic course of events reported on the salutary effects of ketogenic diet, or changes in life style, in similar cases of migraine-triggered epilepsy...
January 2017: Therapeutic Advances in Chronic Disease
https://www.readbyqxmd.com/read/28203254/malformations-of-cortical-development-genetic-mechanisms-and-diagnostic-approach
#4
REVIEW
Jeehun Lee
Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events...
January 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28194133/current-and-emerging-potential-of-magnetoencephalography-in-the-detection-and-localization-of-high-frequency-oscillations-in-epilepsy
#5
REVIEW
Eleonora Tamilia, Joseph R Madsen, Patricia Ellen Grant, Phillip L Pearl, Christos Papadelis
Up to one-third of patients with epilepsy are medically intractable and need resective surgery. To be successful, epilepsy surgery requires a comprehensive preoperative evaluation to define the epileptogenic zone (EZ), the brain area that should be resected to achieve seizure freedom. Due to lack of tools and methods that measure the EZ directly, this area is defined indirectly based on concordant data from a multitude of presurgical non-invasive tests and intracranial recordings. However, the results of these tests are often insufficiently concordant or inconclusive...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28188074/complications-during-ketogenic-diet-initiation-prevalence-treatment-and-influence-on-seizure-outcomes
#6
Abigail Lin, Zahava Turner, Sarah C Doerrer, Anthony Stanfield, Eric H Kossoff
BACKGROUND: Many centers still admit children for several days to start the ketogenic diet. The exact incidence of adverse effects during the admission and their potential later impact on seizure reduction has not been widely studied. METHODS: We performed a retrospective study of children with intractable epilepsy electively admitted for ketogenic diet initiation at our institution from 2011 to 2016. Charts were reviewed for adverse effects during the admission period and then examined for seizure reduction and compliance at three months...
January 16, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28185967/intraoperative-ct-and-nexframe-guided-placement-of-bilateral-hippocampal-based-responsive-neurostimulation-a-technical-note
#7
Kunal Gupta, Jeffrey S Raskin, Ahmed M Raslan
INTRODUCTION: Surgical resection of a lesion that correlates with seizure onset in patients with epilepsy can dramatically improve seizure burden and quality of life. For bilateral hippocampal lesions, bilateral resection comes with a risk of severe cognitive deficits. Responsive neurostimulation (RNS) devices offers a new modality to treat multifocal lesions in a reversible manner, including bilateral hippocampal stimulation. We describe technical aspects of Nexframe-assisted placement of bilateral NeuroPace mesial temporal electrodes, and case examples...
February 6, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28178147/a-case-report-of-stellate-ganglion-block-in-the-treatment-of-epileptic-pain
#8
Shengtao Wang, Yangzi Zhu
RATIONALE: Stellate ganglion blocks have been shown to provide effective pain relief in a number of different conditions, but no one had reported stellate ganglion blocks for the treatment of epileptic pain. We describe a case report of the successful use of stellate ganglion block in the treatment of epileptic pain in the patient. PATIENT CONCERNS: A 8-year-old girl who had experienced severe paroxysmal pain in her right upper limb. DIAGNOSES: She was diagnosed as drug-resistant partial epilepsy...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28173649/-a-novel-mutation-in-kcnb1-gene-in-a-child-with-neuropsychiatric-comorbidities-with-both-intellectual-disability-and-epilepsy-and-review-of-literature
#9
P Miao, J Peng, C Chen, N Gai, F Yin
Objective: To explore the association between the phenotype and KCNB1 gene mutation. Method: Clinical information including physical features, laboratory and genetic data of one patient of mental retardation with refractory epilepsy from Department of Pediatrics, Xiangya Hospital in January 2016 was analyzed. This patient was discovered to have KCNB1 gene mutations through whole exome sequencing. Relevant information about KCNB1 gene mutation was searched and collected from Pubmed, CNKI, Human Gene Mutation Database(HGMD) and Online Mendelian Inheritance in Man(OMIM)...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28168619/pure-endoscopic-management-of-epileptogenic-hypothalamic-hamartomas
#10
S Chibbaro, H Cebula, J Scholly, J Todeschi, I Ollivier, A Timofeev, M Ganau, P Di Emidio, M P Valenti, A M Staack, T Bast, B J Steinhoff, E Hirsch, P Kehrli, F Proust
Hypothalamic hamartomas (HH) are rare congenital malformations located in the region of the tuber cinereum and third ventricle. Their usual clinical presentation is characterized by gelastic/dacrystic seizures which often become pharmaco-resistant and progress to secondary focal/generalized intractable epilepsy causing mostly in children cognitive and behavioral problems (particularly in cases of progressive epileptic encephalopathy) and precocious puberty. Whereas gelastic seizures can be surgically controlled either by resection of the lesion or disconnection (tissue-destructive) procedures, aimed at functionally prevent the spreading of the epileptic burst; generalized seizures tend to respond better to HH excision rather than isolated neocortical resections, which generally fail to control them...
February 7, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28166392/interictal-network-synchrony-and-local-heterogeneity-predict-epilepsy-surgery-outcome-among-pediatric-patients
#11
Samuel B Tomlinson, Brenda E Porter, Eric D Marsh
OBJECTIVE: Epilepsy is a disorder of aberrant cortical networks. Researchers have proposed that characterizing presurgical network connectivity may improve the surgical management of intractable seizures, but few studies have rigorously examined the relationship between network activity and surgical outcome. In this study, we assessed whether local and global measures of network activity differentiated patients with favorable (seizure-free) versus unfavorable (seizure-persistent) surgical outcomes...
February 6, 2017: Epilepsia
https://www.readbyqxmd.com/read/28163531/alternating-hemiplegia-of-childhood-in-a-child-misdiagnosed-as-intractable-epilepsy
#12
Faruk Incecık, Ozlem M Herguner
No abstract text is available yet for this article.
December 2016: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28156216/use-of-an-intraventricular-strip-electrode-for-mesial-temporal-monitoring-in-children-with-medically-intractable-epilepsy
#13
Hyunmi Kim, Ahyuda Oh, Larry Olson, Joshua J Chern
OBJECTIVE The objective of this study was to evaluate mesial temporal electroencephalographic (EEG) monitoring, using an intraventricular strip electrode (IVSE) along the ventricular surface of the hippocampus, in children with medically intractable epilepsy. METHODS The authors reviewed 10 consecutive cases in which subdural electrode placements and mesial temporal monitoring were recommended. The median age of the patients was 12.7 years (range 4.5-19.3 years). Both grids and IVSE were placed in all patients...
February 3, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28135561/focal-cortical-dysplasia-gene-mutations-cell-signaling-and-therapeutic-implications
#14
Philip H Iffland, Peter B Crino
Focal cortical dysplasias (FCDs) are malformations of cortical development (MCDs) that are highly associated with medication-resistant epilepsy and are the most common cause of neocortical epilepsy in children. FCDs are a heterogeneous group of developmental disorders caused by germline or somatic mutations that occur in genes regulating the PI3K/Akt/mTOR pathway-a key pathway in neuronal growth and migration. Accordingly, FCDs are characterized by abnormal cortical lamination, cell morphology (e.g., cytomegaly), and cellular polarity...
January 24, 2017: Annual Review of Pathology
https://www.readbyqxmd.com/read/28133098/-a-case-of-a-single-incisional-laparoscopic-assisted-partial-jejunectomy-performed-to-treat-a-primary-small-intestine-cancer-in-a-young-woman
#15
Akina Saito, Shinichi Yoshioka, Mutsumi Fukunaga, Shoko Honda, Ryohei Yukimoto, Aoi Okamoto, Shinji Tokuyama, Kazuyuki Okada, Hideo Ota, Shigekazu Yokoyama, Hirofumi Miki, Kenji Kobayashi
A 35-year-old woman was followed by epilepsy therapy. She was admitted to our hospital because of a 15 kg decrease in weight, bilious vomit, and frequent epileptic seizures because she could not take oral antiepileptic drugs. A primary small intestinal cancer was suspected in the jejunum about 100 cm from the incisor by single-balloon enteroscopy. A single incisional laparoscopic assisted partial jejunectomy that was minimally invasive was performed to improve the symptoms of intestinal obstruction. The histopathological diagnosis was moderately differentiated adenocarcinoma, ly0, v1, pT4(SE), pN0, pM0, pStage II B...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28128343/rna-sequencing-of-synaptic-and-cytoplasmic-upf1-bound-transcripts-supports-contribution-of-nonsense-mediated-decay-to-epileptogenesis
#16
Claire M Mooney, Eva M Jimenez-Mateos, Tobias Engel, Catherine Mooney, Mairead Diviney, Morten T Venø, Jørgen Kjems, Michael A Farrell, Donncha F O'Brien, Norman Delanty, David C Henshall
The nonsense mediated decay (NMD) pathway is a critical surveillance mechanism for identifying aberrant mRNA transcripts. It is unknown, however, whether the NMD system is affected by seizures in vivo and whether changes confer beneficial or maladaptive responses that influence long-term outcomes such the network alterations that produce spontaneous recurrent seizures. Here we explored the responses of the NMD pathway to prolonged seizures (status epilepticus) and investigated the effects of NMD inhibition on epilepsy in mice...
January 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28122518/dancing-with-a-seizure-a-case-report
#17
Keun Tae Kim, Kon Chu, Sang Kun Lee
BACKGROUND: Dancing is a very rare seizure semiology, and has only few case reports so far. Moreover, no case regarded as dancing with both description and video was presented. CASE PRESENTATION: A 42-year-old woman with medical intractable epilepsy showed a typical semiology of right temporal lobe epilepsy: right hand automatism and ictal speech. The following semiology, appeared during ictal and post-ictal stage, was complex, rhythmical and sequential movement...
January 25, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28111201/human-ipsc-derived-cerebral-organoids-model-cellular-features-of-lissencephaly-and-reveal-prolonged-mitosis-of-outer-radial-glia
#18
Marina Bershteyn, Tomasz J Nowakowski, Alex A Pollen, Elizabeth Di Lullo, Aishwarya Nene, Anthony Wynshaw-Boris, Arnold R Kriegstein
Classical lissencephaly is a genetic neurological disorder associated with mental retardation and intractable epilepsy, and Miller-Dieker syndrome (MDS) is the most severe form of the disease. In this study, to investigate the effects of MDS on human progenitor subtypes that control neuronal output and influence brain topology, we analyzed cerebral organoids derived from control and MDS-induced pluripotent stem cells (iPSCs) using time-lapse imaging, immunostaining, and single-cell RNA sequencing. We saw a cell migration defect that was rescued when we corrected the MDS causative chromosomal deletion and severe apoptosis of the founder neuroepithelial stem cells, accompanied by increased horizontal cell divisions...
January 9, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28109982/altered-glutamate-metabolism-contributes-to-antiepileptogenic-effects-in-the-progression-from-focal-seizure-to-generalized-seizure-by-low-frequency-stimulation-in-the-ventral-hippocampus
#19
Hong-Liu Sun, Wei Zhu, Yu-Rong Zhang, Xiao-Hong Pan, Jun-Ru Zhang, Xiang-Ming Chen, Yu-Xia Liu, Shu-Cui Li, Qiao-Yun Wang, Da-Ping Deng
As a promising method for treating intractable epilepsy, the inhibitory effect of low-frequency stimulation (LFS) is well known, although its mechanisms remain unclear. Excessive levels of cerebral glutamate are considered a crucial factor for epilepsy. Therefore, we designed experiments to investigate the crucial parts of the glutamate cycle. We evaluated glutamine synthetase (GS, metabolizes glutamate), glutaminase (synthesizes glutamate), and glutamic acid decarboxylase (GAD, a γ-aminobutyric acid [GABA] synthetase) in different regions of the brain, including the dentate gyrus (DG), CA3, and CA1 subregions of the hippocampus, and the cortex, using western blots, immunohistochemistry, and enzyme activity assays...
January 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28105099/lamotrigine-decreases-mrp8-and-il-7-in-rat-models-of-intractable-epilepsy-secondary-to-focal-cortical-dysplasia
#20
Jianping Wei, Qingmei Nie, Feng Li
The aim of the present study was to examine the effect of lamotrigine and the expression of myeloid-related protein 8 (MRP8) and interleukin-7 (IL-7) in the treatment of focal cortical dysplasia with secondary intractable epilepsy. In this study, rats with focal cortical dysplasia with secondary intractable epilepsy (constructed by our laboratory) were selected and used for experimentation, 21-day Sprague-Dawley rats were randomly divided into the control group (38 rats), the observation group I (39 rats), and the observation group II (38 rats)...
December 2016: Experimental and Therapeutic Medicine
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