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Focal AND Cortical AND Dysplasia

Andrea Arena, Till S Zimmer, Jackelien van Scheppingen, Anatoly Korotkov, Jasper J Anink, Angelika Mühlebner, Floor E Jansen, Wim van Hecke, Wim G Spliet, Peter C van Rijen, Annamaria Vezzani, Johannes C Baayen, Sander Idema, Anand M Iyer, Marzia Perluigi, James D Mills, Erwin A van Vliet, Eleonora Aronica
Oxidative stress (OS) occurs in brains of patients with epilepsy and coincides with brain inflammation, and both phenomena contribute to seizure generation in animal models. We investigated whether expression of OS and brain inflammation markers co-occurred also in resected brain tissue of patients with epileptogenic cortical malformations: hemimegalencephaly (HME), focal cortical dysplasia (FCD) and cortical tubers in tuberous sclerosis complex (TSC). Moreover, we studied molecular mechanisms linking OS and inflammation in an in vitro model of neuronal function...
October 10, 2018: Brain Pathology
Eva Martinez-Lizana, Susanne Fauser, Armin Brandt, Elisabeth Schuler, Gert Wiegand, Soroush Doostkam, Victoria San Antonio-Arce, Julia Jacobs, Thomas Bast, Mukesch Shah, Josef Zentner, Andreas Schulze-Bonhage
PURPOSE: Focal cortical dysplasia (FCD) is the major cause of focal intractable epilepsy in childhood. Here we analyze the factors influencing the success of surgical treatment in a large cohort of children with histologically ascertained FCD. METHOD: A retrospective study of the effects of FCD type, surgical intervention, and age at surgery in a pediatric cohort. RESULTS: A total of 113 patients (71 male; mean age at surgery 10.3 years; range 0-18) were analyzed; 45 had undergone lesionectomy, 42 lobectomy, 18 multi-lobectomy, and eight hemispherotomy...
September 26, 2018: Seizure: the Journal of the British Epilepsy Association
B A K Kreilkamp, K Das, U C Wieshmann, S Biswas, A G Marson, S S Keller
AIM: To evaluate whether a dedicated epilepsy research protocol with expert image re-evaluation can increase identification of patients with lesions and to attempt to ascertain the potential reasons why lesions were not identified previously on earlier clinical magnetic resonance imaging (MRI). MATERIALS AND METHODS: Forty-three patients (26 female) with focal refractory epilepsy who had failed at least two trials of anti-epileptic drug treatments were studied. Patients were recruited prospectively into the study if previous clinical MRI was deemed to be "non-lesional" by the clinicians involved in the initial assessment...
September 28, 2018: Clinical Radiology
Salwa R Arafa, Candi L LaSarge, Raymund Y K Pun, Shadi Khademi, Steve C Danzer
Loss of the mTOR pathway negative regulator PTEN from hippocampal dentate granule cells leads to neuronal hypertrophy, increased dendritic branching and aberrant basal dendrite formation in animal models. Similar changes are evident in humans with mTOR pathway mutations. These genetic conditions are associated with autism, cognitive dysfunction and epilepsy. Interestingly, humans with mTOR pathway mutations often present with mosaic disruptions of gene function, producing lesions that range from focal cortical dysplasia to hemimegalanecephaly...
September 28, 2018: Experimental Neurology
Emilija Cvetkovska, Igor Kuzmanovski, Marija Babunovska, Bojan Boshkovski, Katina Aleksovska, Gordana Kiteva Trencevska
OBJECTIVES: The choice of antiepileptic drug is typically based on seizure type, and there is no evidence for superior effectiveness or potential deterioration of particular antiepileptic drug in specific etiologic subgroups. The aim of the study was to identify etiological factor(s) associated with increased risk of seizure aggravation with levetiracetam (LEV). METHODS: A retrospective analysis of 139 patients treated with LEV was performed. Seizure aggravation was defined as a 100% or greater increase in seizures frequency, which occurred within 1 month of drug introduction...
September 18, 2018: Clinical Neuropharmacology
Harvey B Sarnat, Walter Hader, Laura Flores-Sarnat, Luis Bello-Espinosa
AIMS: The purpose is to demonstrate heterotopic neurones and their synaptic plexi within the U-fibre layer beneath focal cortical dysplasias (FCD). MATERIALS AND METHODS: This prospective qualitative neuropathological study included 23 patients, ages from 3 months to 17 years: resections at epileptogenic foci in 10 FCD Ia; 6 FCD IIa,b; 2 FCD IIIa,d; 3 HME; 2 TSC; 8 controls. TECHNIQUES: immunoreactivities for synaptophysin, NeuN, MAP2, SMI32, calretinin, GFAP, vimentin, α-B-crystallin...
September 20, 2018: Clinical Neuropathology
L Liang, K P Ma, H Leng, Y L Li, J Fu, X X Yao, Y L Liu, Q Liu
Objective: To investigate the clinicopathologic features of Rasmussen syndrome (RS) and to raise awareness of this rare disease. Methods: Clinicopathologic data of 4 cases of RS were retrospectively analyzed at Beijing Haidian Hospital from 2008 to 2016. Results: The clinical manifestations included epilepsia partialis continua and progressive neurologic deficits in all patients.MRI demonstrated unihemispheric focal cortical atrophy in all cases. The histopathologic changes included variable degrees of lymphocytic infiltrate within the cortex, subarachnoid space and perivascular cuffing...
September 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
X L Qi, K Yao, Z J Duan, Y Bian, Z Ma, Y S Piao, L P Gong
Objective: To investigate the clinicopathologic characteristics and BRAF V600E mutation of brain tumors associated with epilepsy. Methods: Totally 250 patients with brain tumors associated with epilepsy were included from March 2008 to August 2017 retrospectively at Sanbo Brain Hospital, Capital Medical University.The clinical manifestations, histological features and BRAF V600E mutation results were collected and analyzed. Results: There were 132 males and 118 females, and the male to female ratio was 1.1∶1...
September 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Y Sakaguchi, H Kidokoro, C Ogawa, Y Okai, Y Ito, H Yamamoto, A Ohno, T Nakata, T Tsuji, T Nakane, H Kawai, K Kato, S Naganawa, J Natsume
BACKGROUND AND PURPOSE: Despite the development of neuroimaging, identification of focal cortical dysplasia remains challenging. The purpose of this study was to show the longitudinal changes of MR imaging and FDG-PET in patients with West syndrome and subtle focal cortical dysplasia. MATERIALS AND METHODS: Among 52 consecutive patients with West syndrome, 4 were diagnosed with subtle focal cortical dysplasia on 3T MR imaging. MR imaging and PET findings were evaluated longitudinally at onset and at 12 and 24 months of age...
September 13, 2018: AJNR. American Journal of Neuroradiology
Matthew Torre, Nicholas Jessop, Jason L Hornick, Sanda Alexandrescu
We report a case of a 20-month-old male presenting with seizures who was found to have a hyperintense lesion on T2-weighted images of magnetic resonance imaging in the left medial temporal lobe that was initially clinically and radiologically thought to be either low-grade glioma or focal cortical dysplasia. Histologic, immunohistochemical and molecular evaluation (array comparative genomic hybridization, Archer fusion panel) of the resection specimen demonstrated a highly infiltrative fibroblastic spindle cell neoplasm with mild nuclear atypia and an RBPMS-NTRK3 fusion...
September 6, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Kevin Akeret, David Bellut, Hans-Jürgen Huppertz, Georgia Ramantani, Kristina König, Carlo Serra, Luca Regli, Niklaus Krayenbühl
OBJECTIVE Surgery has proven to be the best therapeutic option for drug-refractory cases of focal cortical dysplasia (FCD)-associated epilepsy. Seizure outcome primarily depends on the completeness of resection, rendering the intraoperative FCD identification and delineation particularly important. This study aims to assess the diagnostic yield of intraoperative ultrasound (IOUS) in surgery for FCD-associated drug-refractory epilepsy. METHODS The authors prospectively enrolled 15 consecutive patients with drug-refractory epilepsy who underwent an IOUS-assisted microsurgical resection of a radiologically suspected FCD between January 2013 and July 2016...
September 2018: Neurosurgical Focus
Catherine McClung-Smith
No abstract text is available yet for this article.
September 2018: Neurosurgical Focus
Kelsey Cobourn, Islam Fayed, Robert F Keating, Chima O Oluigbo
OBJECTIVE Stereoelectroencephalography (sEEG) and MR-guided laser interstitial thermal therapy (MRgLITT) have both emerged as minimally invasive alternatives to open surgery for the localization and treatment of medically refractory lesional epilepsy. Although some data are available about the use of these procedures individually, reports are almost nonexistent on their use in conjunction. The authors' aim was to report early outcomes regarding efficacy and safety of sEEG followed by MRgLITT for localization and ablation of seizure foci in the pediatric population with medically refractory lesional epilepsy...
September 2018: Neurosurgical Focus
Nino Epitashvili, Victoria San Antonio-Arce, Armin Brandt, Andreas Schulze-Bonhage
OBJECTIVE: To assess scalp electroencephalographic (EEG) patterns as possible biomarkers for an underlying focal cortical dysplasia (FCD) in patients with structural epilepsy. METHODS: Scalp electroencephalograms (EEGs) of epilepsy patients with histologically confirmed diagnosis of FCD type I or II (n = 71, age = 3-66 years, 28 female) and of controls with other underlying pathologies (n = 43, age = 2-60 years, 16 female) were retrospectively evaluated regarding the presence or absence of 12 scalp EEG patterns previously reported to be associated with FCD...
October 2018: Annals of Neurology
Xin Chen, Tianyi Qian, Tobias Kober, Guojun Zhang, Zhiwei Ren, Tao Yu, Yueshan Piao, Nan Chen, Kuncheng Li
Objectives: To evaluate the diagnostic value and characteristic features of FCD epileptogenic zones using a novel sequence called fluid and white matter suppression (FLAWS). Materials and methods: Thirty-nine patients with pathologically confirmed FCD and good surgery outcomes (class I or II, according to the Engel Epilepsy Surgery Outcome Scale) were retrospectively included in the study. All the patients underwent a preoperative whole-brain MRI examination that included conventional sequences (T2WI, T1WI, two-dimensional (2D) axial, coronal fluid-attenuated inversion recovery [FLAIR]) and FLAWS...
2018: NeuroImage: Clinical
Tao Yu, Duanyu Ni, Xiating Zhang, Xueyuan Wang, Liang Qiao, Xiaoxia Zhou, Yuping Wang, Yongjie Li, Guojun Zhang
PURPOSE: Magnetoencephalography (MEG) is considered to be a useful clinical tool to provide additional information for localising the epileptogenic zone or planning intracranial electrode implantation. This study aimed to evaluate the value of MEG in the presurgical localisation of the operculo-insular epileptogenic zone in patients with negative magnetic resonance imaging (MRI). METHODS: Thirteen patients with operculo-insular epilepsy and negative MRI who were identified by presurgical evaluation and underwent resective surgery from January 2011 to June 2015 were included and analysed in the study...
October 2018: Seizure: the Journal of the British Epilepsy Association
Katherine E Muir, Michael Sargent, Cyrus Boelman
No abstract text is available yet for this article.
June 4, 2018: Pediatric Neurology
Islam Fayed, Matthew F Sacino, Willilam D Gaillard, Robert F Keating, Chima O Oluigbo
INTRODUCTION: MR-guided laser interstitial thermal therapy (MRgLITT) has emerged as a safe and effective treatment option for the ablation of epileptic foci. Its minimally invasive nature makes it attractive due to decreased morbidity and hospital stay. OBJECTIVE: To report the efficacy and safety of MRgLITT as a minimally invasive procedure for the ablation of epileptic foci in the pediatric population of medically refractory lesional epilepsy. METHODS: A retrospective review of patients who underwent MRgLITT via Visualase laser ablation at a single pediatric center was performed...
2018: Pediatric Neurosurgery
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, Marjan van Kempen, Eva H Brilstra, Gaetan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Edouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand-Sorbets, Georg Dorfmüller, Sanjay Sisodiya, Simona Balestrini, Natasha Schoeler, Laura Hernandez-Hernandez, S Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, Charles Deckers, Bianca Berghuis, Ilse Wegner, Erik Niks, Floor E Jansen, Kees Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, Marie-Line Jacquemont, Caroline Nava, Eric Leguern, Sophie Julia, Antonio Gambardella, Giuseppe d'Orsi, Giovanni Crichiutti, Laurence Faivre, Veronique Darmency, Barbora Benova, Pavel Krsek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R Nordli, Kristin Lindstrom, Pasquale Striano, Lysa Boissé Lomax, Courtney Kiss, Fabrice Bartolomei, Anne Fabienne Lepine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard-Mousnier, Julien Thevenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller-Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostasy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R Lemke, Rikke S Møller, Stéphanie Baulac
PURPOSE: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants. RESULTS: The GATOR1 seizure phenotype consisted mostly in focal seizures (e...
August 10, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Sangjoon Chong, Ji Hoon Phi, Ji Yeoun Lee, Seung-Ki Kim
Lesional mesial temporal lobe epilepsy (mTLE) concerns a lesion other than mesial hippocampal sclerosis present in the mesial temporal lobe and causing seizures. The lesions are usually composed of focal cortical dysplasia (FCD) or are tumorous. These are good candidates for surgical treatment. Sometimes, it is difficult to distinguish between tumors and FCD and to determine the extent of required removal. 11 C-methionine positron emission tomography (PET) is helpful in differentiating lesions before surgery in lesional mTLE...
June 2018: Journal of Epilepsy Research
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