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Intractable epilepsy

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https://www.readbyqxmd.com/read/28102781/a-neurodevelopmental-disorder-with-a-nonsense-mutation-in-the-ox-2-antigen-domain-of-the-amyloid-precursor-protein-app-gene
#1
Khue Vu Nguyen, Karen Leydiker, Raymond Wang, Jose Abdenur, William L Nyhan
We report a patient, an infant with a neurodevelopmental disorder manifesting intractable complex partial epilepsy, bull's eye maculopathy, microcephaly, bilateral cataracts, truncal hypotonia, and spasticity of all four extremities. Sequencing of genomic DNA revealed mutations in (a) exon 8 (Ox-2 antigen domain) of the amyloid precursor protein (APP) gene: c.1075C>T, p.Arg359(*) (b) exon 8 of the senataxin (SETX) gene: c.4738C>T, p.Arg1580Cys, and (c) exon 2 of the ceroid-lipofuscinosis, neuronal 8 (CLN8) gene: c...
January 19, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/28088805/a-retrospective-analysis-of-stereoelectroencephalography-and-subdural-electroencephalography-for-preoperative-evaluation-of-intractable-epilepsy
#2
Meihua Yang, Yuanshi Ma, Wei Li, Xianjun Shi, Zhi Hou, Ning An, Chunqing Zhang, Lihong Liu, Hui Yang, Dong Zhang, Shiyong Liu
BACKGROUND: Different methods for intracranial electrode recording have various advantages and disadvantages, and controversy exists regarding the complications of stereoelectroencephalography (SEEG) and subdural EEG. OBJECTIVE: The purpose of this study was to determine the efficacy and safety of SEEG by comparing it with subdural EEG. METHODS: Data from 100 patients who underwent SEEG (n = 48) and subdural EEG (n = 52) to evaluate the epileptogenic zone were collected from June 2011 to June 2015...
January 14, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28088680/the-influence-of-patient-caregiver-and-family-factors-on-symptoms-of-anxiety-and-depression-in-children-and-adolescents-with-intractable-epilepsy
#3
Klajdi Puka, Elysa Widjaja, Mary Lou Smith
OBJECTIVE: The objective was to evaluate the association of caregiver and family factors with symptoms of anxiety and depression in children and adolescents with medically refractory localization-related epilepsy (i.e., failed at least two epilepsy medications). METHOD: Forty-four children (ages 6-11years) and 65 adolescents (ages 12-18years) and their parents participated in this multicentered, observational, cross-sectional study. Univariable and multivariable linear regressions were used to evaluate the influence of multiple patient, caregiver, and family characteristics on self-reported symptoms of anxiety and depression in the children and adolescents...
January 12, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28079431/vagus-nerve-stimulation-in-intractable-epilepsy-associated-with-scn1a-gene-abnormalities
#4
Stephen P Fulton, Kate Van Poppel, Amy L McGregor, Basanagoud Mudigoudar, James W Wheless
Mutations in the SCN1A gene cause a spectrum of epilepsy syndromes. There are 2 syndromes that are on the severe end of this spectrum. The classic severe form, Dravet syndrome, is an epileptic encephalopathy of childhood, causing cognitive decline as well as intractable seizures. Severe Myoclonic Epilepsy of Infancy-Borderline (SMEIB) is a term used to include cases with similar severities as those with Dravet syndrome, but lacking a single feature of classic severe myoclonic epilepsy of infancy. Vagus nerve stimulation is a nonpharmacologic treatment for intractable epilepsy...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28076316/changes-of-thyroid-hormonal-status-in-patients-receiving-ketogenic-diet-due-to-intractable-epilepsy
#5
Engin Kose, Orkide Guzel, Korcan Demir, Nur Arslan
BACKGROUND: Ketogenic diet (KD), which is high in fat and low in carbohydrates, mimics the metabolic state of starvation and is used therapeutically for pharmacoresistant epilepsy. It is known that generation of triiodothyronine (T3) from thyroxine (T4) decreases during fasting periods. The aim of this study was to evaluate the thyroid function of children receiving KD for at least 1 year due to drug-resistant epilepsy. METHODS: A total of 120 patients [63 males, 52...
January 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28074282/unique-findings-of-subependymal-giant-cell-astrocytoma-within-cortical-tubers-in-patients-with-tuberous-sclerosis-complex-a-histopathological-evaluation
#6
Joel S Katz, Hyman Frankel, Tracy Ma, David Zagzag, Benjamin Liechty, Bruria Ben Zeev, Michal Tzadok, Orrin Devinsky, Howard L Weiner, Jonathan Roth
INTRODUCTION: Tuberous sclerosis is associated with three central nervous system pathologies: cortical/subcortical tubers, subependymal nodules (SENs), and subependymal giant cell astrocytomas (SEGAs). Tubers are associated with epilepsy, which is often medication-resistant and often leads to resective surgery. Recently, mammalian target of rapamycin inhibitors (mTORi) have been shown to be effective reducing seizure burden in some patients with tuberous sclerosis complex (TSC)-related refractory epilepsy...
January 10, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28073790/clemizole-and-modulators-of-serotonin-signalling-suppress-seizures-in-dravet-syndrome
#7
Aliesha Griffin, Kyla R Hamling, Kelly Knupp, SoonGweon Hong, Luke P Lee, Scott C Baraban
Dravet syndrome is a catastrophic childhood epilepsy with early-onset seizures, delayed language and motor development, sleep disturbances, anxiety-like behaviour, severe cognitive deficit and an increased risk of fatality. It is primarily caused by de novo mutations of the SCN1A gene encoding a neuronal voltage-activated sodium channel. Zebrafish with a mutation in the SCN1A homologue recapitulate spontaneous seizure activity and mimic the convulsive behavioural movements observed in Dravet syndrome. Here, we show that phenotypic screening of drug libraries in zebrafish scn1 mutants rapidly and successfully identifies new therapeutics...
January 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28056425/fcd-type-ii-and-mtor-pathway-evidence-for-different-mechanisms-involved-in-the-pathogenesis-of-dysmorphic-neurons
#8
Laura Rossini, Flavio Villani, Tiziana Granata, Laura Tassi, Giovanni Tringali, Francesco Cardinale, Eleonora Aronica, Roberto Spreafico, Rita Garbelli
Type II focal cortical dysplasia (FCD II) is a malformation of cortical development, frequently associated with intractable epilepsy, characterised by cortical dyslamination, dysmorphic neurons (DNs) and balloon cells (BCs). We investigated the expression of pS6 (downstream target) and pPDK1-pAkt (upstream targets) as evidence for mTOR pathway activation and their co-expression with Interleukin-1β in FCD II surgical specimens and compared the findings with control non-epileptic tissue, non-malformed epileptic tissue or acquired epilepsy-Rasmussen's Encephalitis (RE) occasionally presenting pS6 and Interleukin-1β positive abnormal neurons...
December 7, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/28054653/the-long-non-coding-rna-neat1-is-responsive-to-neuronal-activity-and-is-associated-with-hyperexcitability-states
#9
Guy Barry, James A Briggs, Do Won Hwang, Sam P Nayler, Patrick R J Fortuna, Nicky Jonkhout, Fabien Dachet, Jesper L V Maag, Pieter Mestdagh, Erin M Singh, Lotta Avesson, Dominik C Kaczorowski, Ezgi Ozturk, Nigel C Jones, Irina Vetter, Luis Arriola-Martinez, Jianfei Hu, Gloria R Franco, Victoria M Warn, Andrew Gong, Marcel E Dinger, Frank Rigo, Leonard Lipovich, Margaret J Morris, Terence J O'Brien, Dong Soo Lee, Jeffrey A Loeb, Seth Blackshaw, John S Mattick, Ernst J Wolvetang
Despite their abundance, the molecular functions of long non-coding RNAs in mammalian nervous systems remain poorly understood. Here we show that the long non-coding RNA, NEAT1, directly modulates neuronal excitability and is associated with pathological seizure states. Specifically, NEAT1 is dynamically regulated by neuronal activity in vitro and in vivo, binds epilepsy-associated potassium channel-interacting proteins including KCNAB2 and KCNIP1, and induces a neuronal hyper-potentiation phenotype in iPSC-derived human cortical neurons following antisense oligonucleotide knockdown...
January 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28054328/magnetoencephalography-and-new-imaging-modalities-in-epilepsy
#10
REVIEW
Jessica Falco-Walter, Christian Owen, Mishu Sharma, Christopher Reggi, Mandy Yu, Travis R Stoub, Michael A Stein
The success of epilepsy surgery is highly dependent on correctly identifying the entire epileptogenic region. Current state-of-the-art for localizing the extent of surgically amenable areas involves combining high resolution three-dimensional magnetic resonance imaging (MRI) with electroencephalography (EEG) and magnetoencephalography (MEG) source modeling of interictal epileptiform activity. Coupling these techniques with newer quantitative structural MRI techniques, such as cortical thickness measurements, however, may improve the extent to which the abnormal epileptogenic region can be visualized...
January 4, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28045733/pet-mri-coregistration-in-intractable-epilepsy-and-gray-matter-heterotopia
#11
Nikhil Seniaray, Anuj Jain
A 25-year-old woman with intractable seizures underwent FDG PET/MRI for seizure focus localization. MRI demonstrated bilateral carpetlike nodular subependymal gray matter and asymmetrical focal dilatation in the right temporal horn. PET/MRI showed increased FDG within subependymal gray matter with significant hypometabolism in right anterior temporal lobe. EEG and ictal semiology confirmed the right temporal seizure origin. This case highlights the importance of identification of gray matter heterotopia on FDG PET/MRI...
December 30, 2016: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28043061/fars2-mutation-and-epilepsy-possible-link-with-early-onset-epileptic-encephalopathy
#12
Jae So Cho, Seung Hyo Kim, Ha Young Kim, Taesu Chung, Dongsup Kim, Sesong Jang, Seung Bok Lee, Seung Keun Yoo, Jongyeon Shin, Jong-Il Kim, Hunmin Kim, Hee Hwang, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, Byung Chan Lim
Early-onset epileptic encephalopathy (EOEE) consists of a heterogeneous group of epilepsy phenotypes. Recent technological advances in molecular biology have also rapidly expanded the genotype of EOEE. Genes involved in diverse molecular pathways, including ion channels, synaptic structure, transcription regulation, and cellular growth, have been implicated in EOEE. Mitochondrial aminoacyl tRNA synthetase, which plays a key role in mitochondrial protein synthesis by attaching 20 different amino acids to the tRNA tail, has been recently linked with the epilepsy phenotype...
December 2, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/28041673/epilepsy-related-brain-tumors
#13
Özdem Ertürk Çetin, Cihan İşler, Mustafa Uzan, Çiğdem Özkara
Seizures are among the most common presentations of brain tumors. Several tumor types can cause seizures in varying rates; neuroglial tumors and the gliomas are the most common ones. Brain tumors are the second most common cause of focal intractable epilepsy in epilepsy surgery series, with the highest frequency being dysembryoplastic neuroepithelial tumors and gangliogliomas. Seizure management is an important part of the treatment of patients with brain tumors. This review discusses clinical features and management of seizures in patients with brain tumors, including, neuroglial tumors, gliomas, meningioma and metastases; with the help of recent literature data...
December 21, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28038385/changes-in-quality-of-life-as-a-result-of-ketogenic-diet-therapy-a-new-approach-to-assessment-with-the-potential-for-positive-therapeutic-effects
#14
Susan Bruce, Anita Devlin, Linda Air, Lucy Cook
There are difficulties inherent in measuring Quality of life (QoL) in patients with chronic illness, including agreement on definitions of quality of life and the type of measure used, disease specific or generic. Well validated QoL instruments for epilepsy exist but focus on capturing common themes pertinent to children and families as a group instead of focusing on themes important to individual patients and their families/carers. In addition, it is common for numerous items on these inventories to be left incomplete or responded to with "not applicable" since many of the items are not suitable for children with disabilities and their families...
December 27, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28036289/expression-of-pannexin-1-and-2-in-cortical-lesions-from-intractable-epilepsy-patients-with-focal-cortical-dysplasia
#15
Song Li, Zhenle Zang, Jiaojiang He, Xin Chen, Sixun Yu, Yuchun Pei, Zhi Hou, Ning An, Hui Yang, Chunqing Zhang, Shiyong Liu
Focal cortical dysplasia (FCD) is a major cause of intractable epilepsy in children however the mechanisms underlying the pathogenesis of FCD and FCD induced epilepsy remain unclear. Increasing evidence suggests that the large-pore ion channels, pannexin 1 (Panx1) and 2 (Panx2), are involved in epilepsy and brain development. In this study, we investigated the expression of Panx1 and Panx2 in surgical samples from patients with FCD type Ia (FCDIa), type IIa (FCDIIa), and type IIb (FCDIIb) and in age-matched autopsy control samples...
December 28, 2016: Oncotarget
https://www.readbyqxmd.com/read/28018440/glucose-transport-1-deficiency-presenting-as-infantile-spasms-with-a-mutation-identified-in-exon-9-of-slc2a1
#16
Hyun Hee Lee, Yun Jung Hur
Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28011454/predicting-neurosurgical-outcomes-in-focal-epilepsy-patients-using-computational-modelling
#17
Nishant Sinha, Justin Dauwels, Marcus Kaiser, Sydney S Cash, M Brandon Westover, Yujiang Wang, Peter N Taylor
Surgery can be a last resort for patients with intractable, medically refractory epilepsy. For many of these patients, however, there is substantial risk that the surgery will be ineffective. The prediction of who is likely to benefit from a surgical approach is crucial for being able to inform patients better, conduct principled prospective clinical trials, and ultimately tailor therapeutic approaches to these patients more effectively. Dynamical computational models, informed with patient data, can be used to make predictions and give mechanistic insight...
December 23, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27995127/stereotactic-laser-ablation-for-medically-intractable-epilepsy-the-next-generation-of-minimally-invasive-epilepsy-surgery
#18
REVIEW
Michael J LaRiviere, Robert E Gross
Epilepsy is a common, disabling illness that is refractory to medical treatment in approximately one-third of patients, particularly among those with mesial temporal lobe epilepsy. While standard open mesial temporal resection is effective, achieving seizure freedom in most patients, efforts to develop safer, minimally invasive techniques have been underway for over half a century. Stereotactic ablative techniques, in particular, radiofrequency (RF) ablation, were first developed in the 1960s, with refinements in the 1990s with the advent of modern computed tomography and magnetic resonance-based imaging...
2016: Frontiers in Surgery
https://www.readbyqxmd.com/read/27988965/ictal-asystole-a-systematic-review
#19
Dalma Tényi, Csilla Gyimesi, Péter Kupó, Réka Horváth, Beáta Bóné, Péter Barsi, Norbert Kovács, Tamás Simor, Zsuzsa Siegler, László Környei, András Fogarasi, József Janszky
OBJECTIVE: To comprehensively analyze ictal asystole (IA) on a large number of subjects. METHODS: We performed a systematic review of case report studies of patients diagnosed with IA (1983-2016). Each included case was characterized with respect to patient history, IA seizure characteristics, diagnostic workup, and therapy. In addition, comparative analyses were also carried out: two alignments were developed based on the delay between epilepsy onset and IA onset ("new-onset" if <1 year, "late-onset" if ≥1 year) and asystole duration (asystole was "very prolonged" if lasted >30 s)...
December 18, 2016: Epilepsia
https://www.readbyqxmd.com/read/27979877/neural-progenitor-cells-in-cerebral-cortex-of-epilepsy-patients-do-not-originate-from-astrocytes-expressing-glast
#20
Meng Chen, Till B Puschmann, Ulrika Wilhelmsson, Charlotte Örndal, Marcela Pekna, Kristina Malmgren, Bertil Rydenhag, Milos Pekny
Adult neurogenesis in human brain is known to occur in the hippocampus, the subventricular zone, and the striatum. Neural progenitor cells (NPCs) were reported in the cortex of epilepsy patients; however, their identity is not known. Since astrocytes were proposed as the source of neural progenitors in both healthy and diseased brain, we tested the hypothesis that NPCs in the epileptic cortex originate from reactive, alternatively, de-differentiated astrocytes that express glutamate aspartate transporter (GLAST)...
December 14, 2016: Cerebral Cortex
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