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Focal Seizure

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https://www.readbyqxmd.com/read/29352627/indications-and-limits-of-stereoelectroencephalography-seeg
#1
REVIEW
Lorella Minotti, Alexandra Montavont, Julia Scholly, Louise Tyvaert, Delphine Taussig
Epilepsy surgery is now an accepted treatment to achieve seizure control in carefully selected patients, both children and adults, suffering from drug-resistant focal epilepsy. Although surgical strategies can often be defined on the basis of non-invasive diagnostic procedures, and despite the recent advances in this field, an increasing number of more complex cases requires invasive EEG (iEEG) to provide precise information on the localization of the epileptogenic zone (EZ), its relationships with eloquent cortex (EC), and the feasibility of a tailored surgical resection...
January 15, 2018: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/29352316/kansl1-variation-is-not-a-major-contributing-factor-in-self-limited-focal-epilepsy-syndromes-of-childhood
#2
Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand
BACKGROUND: KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. The epilepsy phenotypic spectrum in KdVS is broad, but most individuals have focal seizures with some having a phenotype resembling the self-limited focal epilepsies of childhood (SFEC). We hypothesized that variants in KANSL1 contribute to pathogenesis of SFEC. MATERIALS AND METHODS: We screened KANSL1 for single nucleotide variants in 90 patients with SFEC...
2018: PloS One
https://www.readbyqxmd.com/read/29344465/grey-and-white-matter-alterations-in-juvenile-myoclonic-epilepsy-a-comprehensive-review
#3
REVIEW
Ji Hyun Kim
Juvenile myoclonic epilepsy (JME) has been classified as a syndrome of idiopathic generalized epilepsy and is characterized by a strong genetic basis, age-specific onset of seizures, specific types of seizures, generalized spike-wave discharges on electroencephalography, and a lack of focal abnormality on magnetic resonance imaging (MRI). Recently, a wide range of advanced neuroimaging techniques have been utilized to elucidate the neuroanatomical substrates and pathophysiological mechanisms underlying JME...
December 2017: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/29343677/prognostic-factors-in-glioblastoma-is-there-a-role-for-epilepsy
#4
Mauro Dobran, Davide Nasi, Stefano Chiriatti, Maurizio Gladi, Lucia di Somma, Maurizio Iacoangeli, Massimo Scerrati
The prognostic relevance of epilepsy at glioblastoma (GBMs) onset is still under debate. In this study, we analyzed the value of epilepsy and other prognostic factors on GBMs survival. We retrospectively analyzed the clinical, radiological, surgical and histological data in 139 GBMs. Seizures were the presenting symptoms in 50 patients out of 139 (35.9%). 123 patients (88%) were treated with craniotomy and tumor resection while 16 (12%) with biopsy. The median overall survival was 9.9 months from surgery. At univariable Cox regression, the factors that significantly improved survival were age less than 65 years (P = 0...
January 16, 2018: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/29338461/mtor-dysregulation-and-tuberous-sclerosis-related-epilepsy
#5
Paolo Curatolo, Romina Moavero, Jackelien van Scheppingen, Eleonora Aronica
The mammalian target of rapamycin (mTOR) pathway has emerged as a key player for proper neural network development, and it is involved in epileptogenesis triggered by both genetic or acquired factors. Areas covered. The robust mTOR signaling deregulation observed in a large spectrum of epileptogenic developmental pathologies, such as focal cortical dysplasias and tuberous sclerosis complex (TSC), has been linked to germline and somatic mutations in mTOR pathway regulatory genes, increasing the spectrum of "mTORopathies"...
January 17, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29336937/the-combination-of-stereo-eeg-and-radiofrequency-ablation
#6
Hélène Catenoix, Pierre Bourdillon, Marc Guénot, Jean Isnard
SEEG-guided radiofrequency thermocoagulation (SEEG-guided RFTC), a combination of Stereo-electroencephalography (SEEG) and radiofrequency thermocoagulation (RFTC), has been performed since 2001 in drug resistant epilepsy. The interest of this procedure is to aim at total or partial destruction of the epileptogenic zone, as tailored in each individual patient by the SEEG exploration. These multiple SEEG-guided RFTC lesions of epileptic foci are produced by using a radiofrequency generator connected to the electrode contacts...
January 9, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29336036/the-incidence-and-significance-of-periictal-apnea-in-epileptic-seizures
#7
Nuria Lacuey, Bilal Zonjy, Johnson P Hampson, M R Sandhya Rani, Anita Zaremba, Rup K Sainju, Brian K Gehlbach, Stephan Schuele, Daniel Friedman, Orrin Devinsky, Maromi Nei, Ronald M Harper, Luke Allen, Beate Diehl, John J Millichap, Lisa Bateman, Mark A Granner, Deidre N Dragon, George B Richerson, Samden D Lhatoo
OBJECTIVE: The aim of this study was to investigate periictal central apnea as a seizure semiological feature, its localizing value, and possible relationship with sudden unexpected death in epilepsy (SUDEP) pathomechanisms. METHODS: We prospectively studied polygraphic physiological responses, including inductance plethysmography, peripheral capillary oxygen saturation (SpO2 ), electrocardiography, and video electroencephalography (VEEG) in 473 patients in a multicenter study of SUDEP...
January 16, 2018: Epilepsia
https://www.readbyqxmd.com/read/29334037/improvement-in-the-prognosis-of-cerebral-venous-sinus-thrombosis-over-a-22-year-period
#8
Dustin Anderson, Julie Kromm, Thomas Jeerakathil
BACKGROUND: Cerebral venous thrombosis is a rare cause of stroke, with a number of well-defined risk factors. However, there exist few studies that describe trends in the prognosis of this disease over time. METHODS: A retrospective study was performed on patients diagnosed with cerebral venous thrombosis at the University of Alberta Hospital during two time periods: 1988-1998 (21 patients) and 1999-2009 (40 patients). Signs and symptoms, risk factors, imaging findings, etiologies, treatment modalities, and status at discharge were examined...
January 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29333566/principles-of-management-of-central-nervous-system-infections
#9
REVIEW
Sunit Singhi, Suresh Kumar Angurana
CNS infections in children are medical emergency and are associated with high mortality and morbidity. For diagnosis, a high index of suspicion is required. Clinical assessment should be supplemented by laboratory investigations including CSF Gram stain and cultures, blood culture, PCR on CSF, serological tests, and imaging. Commonly associated life threatening complications include coma, seizure, raised intracranial pressure (ICP), focal deficits, shock, respiratory failure, and fluid and electrolyte abnormalities...
January 15, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29331846/functional-neuroimaging-in-rasmussen-syndrome
#10
Ichiro Kuki, Kazumi Matsuda, Yuko Kubota, Tetsuhiro Fukuyama, Yukitoshi Takahashi, Yushi Inoue, Haruo Shintaku
PURPOSE: For a diagnosis of Rasmussen syndrome (RS), clinical course together with electroencephalography (EEG) and magnetic resonance imaging (MRI) findings are considered important, but there are few reports on functional neuroimaging. This study investigated cerebral blood flow (CBF)-single photon emission computed tomography (SPECT), central benzodiazepine receptor (BZR)-SPECT, and fluorine-18 fluorodeoxy glucose-positron emission tomography (FDG-PET) in RS patients, and correlated neuroimaging results with MRI and pathological findings...
January 5, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29331082/mechanistic-target-of-rapamycin-complex-1-and-2-in-human-temporal-lobe-epilepsy
#11
Delia M Talos, Leah M Jacobs, Sarah Gourmaud, Carlos A Coto, Hongyu Sun, Kuei-Cheng Lim, Timothy H Lucas, Kathryn A Davis, Maria Martinez-Lage, Frances E Jensen
OBJECTIVE: Temporal lobe epilepsy (TLE) is a chronic epilepsy syndrome defined by seizures and progressive neurological disabilities, including cognitive impairments, anxiety and depression. Here, human TLE specimens were investigated focusing on the mechanistic target of rapamycin (mTOR) Complex 1 (mTORC1) and Complex 2 (mTORC2) activities in the brain, as both pathways may represent unique targets for treatment. METHODS: Surgically resected hippocampal and temporal lobe samples from therapy-resistant TLE patients were analyzed by Western blotting to quantify the expression of established mTORC1 and mTORC2 activity markers and upstream or downstream signaling pathways involving the two complexes...
January 13, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29327337/generalized-nonmotor-absence-seizures-what-do-absence-generalized-and-nonmotor-mean
#12
REVIEW
Iris Unterberger, Eugen Trinka, Peter W Kaplan, Gerald Walser, Gerhard Luef, Gerhard Bauer
OBJECTIVE: Clinical absences are now classified as "generalized nonmotor (absence) seizures" by the International League Against Epilepsy (ILAE). The aim of this paper is to critically review the concept of absences and to put the accompanying focal and motor symptoms into the context of the emerging pathophysiological knowledge. METHODS: For this narrative review we performed an extensive literature search on the term "absence," and analyzed the plethora of symptoms observed in clinical absences...
January 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29325826/myoclonic-absence-seizures-with-complex-gestural-automatisms
#13
Kenneth A Myers, Ingrid E Scheffer
Epilepsy with myoclonic absences is a rare generalized epilepsy syndrome with distinctive seizures. Two unrelated children had mild developmental impairment and onset of myoclonic-absences at 3 and 8 years. Seizures were characterized by bilateral 3 Hz myoclonic jerks superimposed on tonic abduction of the upper limbs. Events lasted 10-60 s, and complex gestural automatisms were often observed; in one case, a boy undid his seatbelt and attempted to exit a moving vehicle. Post-ictally, both children immediately regained awareness without recollection of their actions...
December 19, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29322500/seizure-onset-predicts-its-type
#14
Cristian Donos, Mihai Dragos Maliia, Matthias Dümpelmann, Andreas Schulze-Bonhage
OBJECTIVE: Epilepsy is characterized by transient alterations in brain synchronization resulting in seizures with a wide spectrum of manifestations. Seizure severity and risks for patients depend on the evolution and spread of the hypersynchronous discharges. With standard visual inspection and pattern classification, this evolution could not be predicted early on. It is still unclear to what degree the seizure onset zone determines seizure severity. Such information would improve our understanding of ictal epileptic activity and the existing electroencephalogram (EEG)-based warning and intervention systems, providing specific reactions to upcoming seizure types...
January 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29321231/chronic-traumatic-encephalopathy-in-an-epilepsy-surgery-cohort-clinical-and-pathologic-findings
#15
Amy L Jones, Jeffrey W Britton, Melissa M Blessing, Joseph E Parisi, Gregory D Cascino
OBJECTIVE: To determine the occurrence of chronic traumatic encephalopathy (CTE) in young adult patients undergoing epilepsy surgery. METHODS: Ten patients who underwent epilepsy surgery were randomly selected for this retrospective study. The patients were 18-45 years of age, had preoperative neuropsychological evaluation, and had 1 year postoperative follow-up. Microscopic sections from resections were evaluated for the presence of CTE with standard stains and antibodies to tau (clone AT8)...
January 10, 2018: Neurology
https://www.readbyqxmd.com/read/29318994/a-rare-pediatric-case-of-neurocysticercosis-misdiagnosed-as-brain-abscess
#16
Türkan Aydın Teke, Ayşe Kaman, Zeynep Gökçe Gayretli Aydın, Sema Apaydın, Çiğdem Genç Sel, Erkut Baha Bulduk, Saliha Kanık Yüksek, Kader Karlı Oğuz, Gönül Tanır
Neurocysticercosis is a parasitic infection of the central nervous system caused by the larval stage of Taenia solium. Although this zoonotic infection is one of the major public health problems in some developing countries, it is extremely rare in Turkey. In this article, we present the case of a pediatric patient with neurocysticercosis who was misdiagnosed with brain abscess because of focal seizures in another hospital.
December 2017: Türkiye Parazitolojii Dergisi
https://www.readbyqxmd.com/read/29315614/defining-the-phenotypic-spectrum-of-slc6a1-mutations
#17
Katrine M Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna-Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca, Marie-Thérèse Abi-Warde, Jamel Chelly, Amélie Piton, J Lawrence Merritt, Lance H Rodan, Wen-Hann Tan, Lynne M Bird, Mark Nespeca, Joseph G Gleeson, Yongjin Yoo, Murim Choi, Jong-Hee Chae, Desiree Czapansky-Beilman, Sara Chadwick Reichert, Manuela Pendziwiat, Judith S Verhoeven, Helenius J Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G Weber, Caroline Nava, Boris Keren, Diane Doummar, Elise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica E Shaw, Laura Pisani, Candace T Myers, Sha Tang, Shan Tang, Deb K Pal, John J Millichap, Gemma L Carvill, Kathrine L Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C Mefford, Rikke S Møller
OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. METHODS: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects. RESULTS: Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature...
January 8, 2018: Epilepsia
https://www.readbyqxmd.com/read/29314583/novel-mutations-and-phenotypes-of-epilepsy-associated-genes-in-epileptic-encephalopathies
#18
Peng Zhou, Na He, Jing-Wen Zhang, Zhi-Jian Lin, Jie Wang, Li-Min Yan, Heng Meng, Bin Tang, Bing-Mei Li, Xiao-Rong Liu, Yi-Wu Shi, Qiong-Xiang Zhai, Yong-Hong Yi, Wei-Ping Liao
Epileptic encephalopathies are severe epilepsy disorders with strong genetic bases. We performed targeted next-generation sequencing in 70 patients with epileptic encephalopathies. The likely pathogenicity of variants in candidate genes was evaluated by American College of Medical Genetics and Genomics (ACMG) scoring taken together with the accepted clinical presentation. Thirty-three candidate variants were detected after population filtration and computational prediction. According to ACMG, 21 candidate variants, including 18 de novo variants, were assessed to be pathogenic/likely pathogenic with clinical concordance...
January 4, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29310866/initial-clinical-presentation-of-young-children-with-n-methyl-d-aspartate-receptor-encephalitis
#19
Marion Favier, Bastien Joubert, Géraldine Picard, Véronique Rogemond, Laure Thomas, Sylvain Rheims, Marion Bailhache, Frédéric Villega, Jean-Michel Pédespan, Giulia Berzero, Dimitri Psimaras, Jean-Christophe Antoine, Virginie Desestret, Jérôme Honnorat
Autoimmune encephalitis with anti-N-methyl-d-aspartate receptor autoantibodies (NMDA-R-Abs) is a recently described disease affecting adult and pediatric patients. Symptoms of the disease are now perfectly described in the adult population but the clinical presentation is less known in young children. The aim of the present study was to describe the clinical presentation and the specificities of symptoms presented by young children with NMDA-R-Abs encephalitis to improve diagnosis of this disease, and to compare these to a series of previously published female adult patients...
December 28, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29310486/focal-segmental-glomerulosclerosis-in-children-complicated-by-posterior-reversible-encephalopathy-syndrome
#20
Magdalena Stârcea, Cristina Gavrilovici, Mihaela Munteanu, Ingrith Miron
An uncommon side effect of cyclosporine A (CsA) use is posterior reversible encephalopathy syndrome (PRES). PRES usually develops because of disturbed capacity of posterior cerebral blood flow to autoregulate an acute rise in blood pressure. We present the case of a 10-year-old girl who was previously diagnosed in our department with focal segmental glomerulosclerosis. She was treated with CsA and developed seizures, progressive loss of consciousness, and visual disturbance on the 7th day of treatment. Brain magnetic resonance imaging showed degeneration of white matter with diffuse demyelination in the parietal and posterior occipital lobes, consistent with the diagnosis of PRES...
January 1, 2018: Journal of International Medical Research
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