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Intractable epilepsy

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https://www.readbyqxmd.com/read/28633092/epilepsy-in-neurofibromatosis-type-1
#1
Anthony Pecoraro, Eric Arehart, William Gallentine, Rodney Radtke, Edward Smith, Carolyn Pizoli, Sujay Kansagra, Elie Abdelnour, Roger McLendon, Mohamad A Mikati
OBJECTIVES: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1). METHODS: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period. RESULTS: Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Of the 26, 17 (65%) had localization-related epilepsy, seven of whom (41%) were drug resistant. Six (23%) had apparently primary generalized epilepsy (0/6 drug resistant), two (8%) Lennox-Gastaut syndrome, and one (4%) West syndrome (all three were drug-resistant)...
June 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28628556/real-time-imaging-of-epileptic-seizures-in-rats-using-electrical-impedance-tomography
#2
Lei Wang, Yang Sun, Xinmin Xu, Xiuzhen Dong, Feng Gao
The presence of multiple or diffuse lesions on imaging is a contraindication to surgery for patients with intractable epilepsy. Theoretically, as a functional imaging technique, electrical impedance tomography (EIT) can accurately image epileptic foci. However, most current studies are limited to examining epileptic spikes and few studies use EIT for real-time imaging of seizure activity. Moreover, little is known about changes in electrical impedance during seizures. In this study, we used EIT to monitor seizure progression in real time and analyzed changes in electrical impedance during seizures...
June 16, 2017: Neuroreport
https://www.readbyqxmd.com/read/28625944/intractable-ictal-vomiting-a-new-form-of-reflex-epilepsy
#3
Sachin Sureshbabu, Dinesh Nayak, Vikash Aggarwal, Sudhir Peter, Laxmi Khanna, Gaurav Mittal
In this description of the clinical course of a young female with persistent and protracted vomiting along with occasional loss of consciousness and subtle motor manifestations, the differential diagnosis is debated. The epileptic origin of her symptoms was substantiated by the presence of interictal epileptiform discharges and dramatic response to valproate monotherapy. Possible lobar localizations are discussed with the support of existing literature on this rare ictal manifestation [Published with video sequence on www...
June 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28623069/neonatal-hypoglycemia-a-wide-range-of-electroclinical-manifestations-and-seizure-outcomes
#4
Ebru Arhan, Zeynep Öztürk, Ayşe Serdaroğlu, Kürşad Aydın, Tuğba Hirfanoğlu, Yılmaz Akbaş
PURPOSE: We examined the various types of epilepsy in children with neonatal hypoglycemia in order to define electroclinical and prognostic features of these patients. METHOD: We retrospectively reviewed the medical records of patients with a history of symptomatic neonatal hypoglycaemia who have been followed at Gazi University Hospital Pediatric Neurology Department between 2006 and 2015. Patients with perinatal asphyxia were excluded. Details of each patient's perinatal history, neurological outcome, epilepsy details, seizure outcome and EEG and brain MRI findings were reviewed...
June 1, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28621831/a-new-rat-model-of-seizures-suitable-for-screening-antiepileptic-electrical-stimulation-therapies
#5
Cristian Sevcencu, Jianhang Jiao, Kristian Rauhe Harreby, Winnie Jensen
The antiepileptic effects of the electrical stimulation therapies developed for patients with intractable epilepsies depend critically on the stimulation parameters, including the pulse duration, current, and frequency. Consequently, optimization of such therapies requires many animals for testing each of the stimulation parameters alone or in combination, which is costly and time consuming. This drawback could be reduced by testing several stimulation paradigms in each animal, but this requires an animal model of long-lasting seizures allowing such repetitive tests...
June 16, 2017: Artificial Organs
https://www.readbyqxmd.com/read/28621621/indications-technique-and-safety-profile-of-insular-stereoelectroencephalography-electrode-implantation-in-medically-intractable-epilepsy
#6
Soha Alomar, Jeffrey P Mullin, Saksith Smithason, Jorge Gonzalez-Martinez
OBJECTIVE Insular epilepsy is relatively rare; however, exploring the insular cortex when preoperative workup raises the suspicion of insular epilepsy is of paramount importance for accurate localization of the epileptogenic zone and achievement of seizure freedom. The authors review their clinical experience with stereoelectroencephalography (SEEG) electrode implantation in patients with medically intractable epilepsy and suspected insular involvement. METHODS A total of 198 consecutive cases in which patients underwent SEEG implantation with a total of 1556 electrodes between June 2009 and April 2013 were reviewed...
June 16, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28620870/severe-growth-deficiency-microcephaly-intellectual-disability-and-characteristic-facial-features-are-due-to-a-homozygous-qars-mutation
#7
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, Chana Vinkler, Keren Yosovich, Sarit Bahar, Miri Yanoov-Sharav, Tally Lerman-Sagie, Dorit Lev
Glutaminyl tRNA synthase is highly expressed in the developing fetal human brain. Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. We have previously reported a new recessive syndrome of severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and intellectual disability in two sisters of Ashkenazi-Jewish origin (Eur J Med Genet 2014;57(6):288-92)...
June 15, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28616385/neurophysiological-evidence-of-preserved-connectivity-in-tuber-tissue
#8
H L Kaye, J M Peters, R Gersner, M Chamberland, A Sansevere, A Rotenberg
We present a case of preserved corticospinal connectivity in a cortical tuber, in a 10 year-old boy with intractable epilepsy and tuberous sclerosis complex (TSC). The patient had multiple subcortical tubers, one of which was located in the right central sulcus. In preparation for epilepsy surgery, motor mapping, by neuronavigated transcranial magnetic stimulation (nTMS) coupled with surface electromyography (EMG) was performed to locate the primary motor cortical areas. The resulting functional motor map revealed expected corticospinal connectivity in the left precentral gyrus...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28614793/a-single-dose-of-cannabidiol-reduces-blood-pressure-in-healthy-volunteers-in-a-randomized-crossover-study
#9
Khalid A Jadoon, Garry D Tan, Saoirse E O'Sullivan
BACKGROUND: Cannabidiol (CBD) is a nonpsychoactive phytocannabinoid used in multiple sclerosis and intractable epilepsies. Preclinical studies show CBD has numerous cardiovascular benefits, including a reduced blood pressure (BP) response to stress. The aim of this study was to investigate if CBD reduces BP in humans. METHODS: Nine healthy male volunteers were given 600 mg of CBD or placebo in a randomized, placebo-controlled, double-blind, crossover study. Cardiovascular parameters were monitored using a finometer and laser Doppler...
June 15, 2017: JCI Insight
https://www.readbyqxmd.com/read/28609734/assessment-of-treatment-patterns-and-healthcare-costs-associated-with-probable-lennox-gastaut-syndrome
#10
J Eric Piña-Garza, Georgia D Montouris, Francis Vekeman, Wendy Y Cheng, Edward Tuttle, Philippe Giguere-Duval, Mei Sheng Duh, Vivienne Shen, Timothy B Saurer, Jouko Isojarvi
Lennox-Gastaut syndrome (LGS) is a chronic and severe form of epilepsy characterized by intractable seizures, cognitive impairment, and abnormal electroencephalogram findings with slow spike-wave complexes. It typically presents before age 8, but symptoms continue into adulthood and require lifelong treatment associated with significant clinical burden. Data on LGS-associated healthcare utilization and costs are limited. In this study we use a claims-based LGS classifier based on random forest methodology to identify patients with probable LGS from the a Medicaid multi-state database and assess its prevalence across the age spectrum, healthcare utilization, treatment patterns, costs, and comorbid conditions...
June 10, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28605962/novel-approach-to-magnetic-resonance-imaging-of-epileptic-dogs-t2-relaxometry-of-the-brain-with-emphasised-hippocampus
#11
Borbála A Lorincz, Agustina Anson, Péter Csébi, Gábor Bajzik, Gergely Biró, Alexander Tichy, Balázs B Lorincz, Rita Garamvölgyi
Hippocampal sclerosis is the most common imaging finding of intractable human epilepsy, and it may play an important role in canine and feline epileptogenesis and seizure semiology, too. The magnetic resonance imaging (MRI) criteria of hippocampal sclerosis are T2 hyperintensity, shrinkage and loss of internal structure. The detection of these changes is often challenging by subjective visual assessment of qualitative magnetic resonance (MR) images. The recognition is more reliable with quantitative MR methods, such as T2 relaxometry...
June 2017: Acta Veterinaria Hungarica
https://www.readbyqxmd.com/read/28591479/hypothalamic-hamartoma-with-epilepsy-review-of-endocrine-comorbidity
#12
Victor S Harrison, Oliver Oatman, John F Kerrigan
The most common, and usually the only, endocrine disturbance in patients with hypothalamic hamartoma (HH) and epilepsy is central precocious puberty (CPP). The mechanism for CPP associated with HH may relate to ectopic generation and pulsatile release of gonadotropin-releasing hormone (GnRH) from the HH, but this remains an unproven hypothesis. Possible regulators of GnRH release that are intrinsic to HH tissue include the following: (1) glial factors (such as transforming growth factor α[TGFα) and (2) γ-aminobutyric acid (GABA)-mediated excitation...
June 2017: Epilepsia
https://www.readbyqxmd.com/read/28589521/strengthening-the-case-for-epilepsy-drug-development-bridging-experiences-from-the-alzheimer-s-disease-field-an-opinion
#13
Roy E Twyman
Given the sheer number of drugs (over 20!) available for treatment of seizures, epilepsy can be considered one of the most successful areas in pharmaceutical development and especially for neuroscience. However, despite the large number of drug treatment options available for managing patients with epilepsy, there remains considerable unmet need. For example, the overall impact on seizure control has not been substantial with approximately 30% of patients remaining refractory or their seizures not adequately controlled...
June 7, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28589518/forty-years-of-sodium-channels-structure-function-pharmacology-and-epilepsy
#14
William A Catterall
Voltage-gated sodium channels initiate action potentials in brain neurons. In the 1970s, much was known about the function of sodium channels from measurements of ionic currents using the voltage clamp method, but there was no information about the sodium channel molecules themselves. As a postdoctoral fellow and staff scientist at the National Institutes of Health, I developed neurotoxins as molecular probes of sodium channels in cultured neuroblastoma cells. During those years, Bruce Ransom and I crossed paths as members of the laboratories of Marshall Nirenberg and Philip Nelson and shared insights about sodium channels in neuroblastoma cells from my work and electrical excitability and synaptic transmission in cultured spinal cord neurons from Bruce's pioneering electrophysiological studies...
June 7, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28589176/arhgef9-disease-phenotype-clarification-and-genotype-phenotype-correlation
#15
Michael Alber, Vera M Kalscheuer, Elysa Marco, Elliott Sherr, Gaetan Lesca, Marianne Till, Gyri Gradek, Antje Wiesener, Christoph Korenke, Sandra Mercier, Felicitas Becker, Toshiyuki Yamamoto, Stephen W Scherer, Christian R Marshall, Susan Walker, Usha R Dutta, Ashwin B Dalal, Vanessa Suckow, Payman Jamali, Kimia Kahrizi, Hossein Najmabadi, Berge A Minassian
OBJECTIVE: We aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations. METHODS: Patients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the literature. Detailed medical history and examination findings were obtained via a standardized questionnaire, or if this was not possible by reviewing the published phenotypic features. RESULTS: A total of 18 patients (including 5 females) were identified...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28587136/use-of-the-ketogenic-diet-to-treat-intractable-epilepsy-in-mitochondrial-disorders
#16
REVIEW
Eleni Paleologou, Naila Ismayilova, Maria Kinali
Mitochondrial disorders are a clinically heterogeneous group of disorders that are caused by defects in the respiratory chain, the metabolic pathway of the adenosine tri-phosphate (ATP) production system. Epilepsy is a common and important feature of these disorders and its management can be challenging. Epileptic seizures in the context of mitochondrial disease are usually treated with conventional anti-epileptic medication, apart from valproic acid. However, in accordance with the treatment of intractable epilepsy where there are limited treatment options, the ketogenic diet (KD) has been considered as an alternative therapy...
May 26, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28579820/cannabis-and-intractable-chronic-pain-an-explorative-retrospective-analysis-of-italian-cohort-of-614-patients
#17
Guido Fanelli, Giuliano De Carolis, Claudio Leonardi, Adele Longobardi, Ennio Sarli, Massimo Allegri, Michael E Schatman
BACKGROUND: Despite growing interest in the therapeutic use of cannabis to manage chronic pain, only limited data that address these issues are available. In recent years, a number of nations have introduced specific laws to allow patients to use cannabis preparations to treat a variety of medical conditions. In 2015, the Italian government authorized the use of cannabis to treat several diseases, including chronic pain generally, spasticity in multiple sclerosis, cachexia and anorexia among AIDS and cancer patients, glaucoma, Tourette syndrome, and certain types of epilepsy...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28572790/photolysis-of-caged-gaba-rapidly-terminates-seizures-in-vivo-concentration-and-light-intensity-dependence
#18
Dan Wang, Zhixin Yu, Jiaqing Yan, Fenqin Xue, Guoping Ren, Chenxi Jiang, Weimin Wang, Yueshan Piao, Xiaofeng Yang
The therapy of focal epilepsy remains unsatisfactory for as many as 25% of patients. The photolysis of caged-γ-aminobutyric acid (caged-GABA) represents a novel and alternative option for the treatment of intractable epilepsy. Our previous experimental results have demonstrated that the use of blue light produced by light-emitting diode to uncage ruthenium-bipyridine-triphenylphosphine-c-GABA (RuBi-GABA) can rapidly terminate paroxysmal seizure activity both in vitro and in vivo. However, the optimal concentration of RuBi-GABA, and the intensity of illumination to abort seizures, remains unknown...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28566958/cognitive-outcome-after-surgery-in-patients-with-mesial-temporal-lobe-epilepsy
#19
Günay Gül, Demet Yandim Kuşcu, Mesude Özerden, Melek Kandemir, Fulya Eren, Bekir Tuğcu, Cahit Keskinkiliç, Nalan Kayrak, Dursun Kirbaş
INTRODUCTION: The aim of the present study was to evaluate the neuropsychological outcomes of patients with medically intractable unilateral mesial temporal lobe epilepsy (MTLE) due to hippocampal sclerosis (HS) treated either by anterior temporal lobectomy (ATL) or selective amygdalohippocampectomy (SAH). METHODS: This was a retrospective study where 67 patients who had undergone surgery for MTLE were evaluated. Thirty-two patients underwent ATL and 35 underwent SAH...
March 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28553390/a-neonate-with-x-linked-lissencephaly-with-ambiguous-genitalia
#20
Priyanka Minocha, Anita Choudhary, Shambhavi, Sadasivan Sitaraman
X-linked lissencephaly with ambiguous genitalia is a rare and recently described syndrome. We report a neonate presenting with the classical features of the syndrome which includes lissencephaly, agenesis of the corpus callosum, intractable epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. The baby was managed aggressively with antiepileptics. Early clinical suspicion of the syndrome can prevent future such occurrences in the family through genetic counseling.
January 2017: Journal of Pediatric Neurosciences
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