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Focal AND Cortical AND Dysplasia

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https://www.readbyqxmd.com/read/30110689/mr-guided-laser-interstitial-thermal-therapy-for-medically-refractory-lesional-epilepsy-in-pediatric-patients-experience-and-outcomes
#1
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...
August 15, 2018: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/30093711/the-landscape-of-epilepsy-related-gator1-variants
#2
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, 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
https://www.readbyqxmd.com/read/30090756/surgical-treatment-of-lesional-mesial-temporal-lobe-epilepsy
#3
REVIEW
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
https://www.readbyqxmd.com/read/30085120/the-impact-of-intraoperative-electrocorticography-on-seizure-outcome-after-resection-of-pediatric-brain-tumors-a-cohort-study
#4
Faith C Robertson, Nicole J Ullrich, Peter E Manley, Hasan Al-Sayegh, Clement Ma, Liliana C Goumnerova
BACKGROUND: Intraoperative electrocorticography (ECoG) has been utilized in patients with tumor-associated seizures; however, its effectiveness for seizure control remains controversial. OBJECTIVE: To evaluate clinical outcomes in pediatric patients undergoing lesionectomy with or without ECoG. METHODS: Patients undergoing brain tumor resection at Boston Children's Hospital were examined retrospectively (2005-2014). Inclusion criteria involved diagnosis of a supratentorial tumor, ≥2 unequivocal seizures, and ≥6 mo follow-up...
July 30, 2018: Neurosurgery
https://www.readbyqxmd.com/read/30080265/somatic-depdc5-deletion-recapitulates-electroclinical-features-of-human-focal-cortical-dysplasia-type-iia
#5
Shuntong Hu, Robert C Knowlton, Brendon O Watson, Katarzyna M Glanowska, Geoffrey G Murphy, Jack M Parent, Yu Wang
Epileptogenic mechanisms in focal cortical dysplasia (FCD) remain elusive, as no animal models faithfully recapitulate FCD seizures, which have distinct electrographic features and a wide range of semiologies. Given that DEPDC5 plays significant roles in focal epilepsies with FCD, we used in utero electroporation with clustered regularly interspaced short palindromic repeats gene deletion to create focal somatic Depdc5 deletion in the rat embryonic brain. Animals developed spontaneous seizures with focal pathological and electroclinical features highly clinically relevant to FCD IIA, paving the way toward understanding its pathogenesis and developing mechanistic-based therapies...
August 6, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/30078769/epileptic-ictal-strabismus-a-case-report-and-review-of-the-literature
#6
Francesco Brigo, Franco Alessandrini, Giammario Ragnedda, Piera Canu, Veronica Tavernelli, Arianna Bratti, Raffaele Nardone
Ictal strabismus, sometimes associated with epileptic nystagmus, is an extremely rare epileptic phenomenon, suggestive of cortical involvement in monocular eye movement control. We describe a patient with ictal disconjugate contraversive horizontal eye deviation of cortical origin as the main clinical feature of a focal seizure. A 17-year-old, previously healthy woman had a seizure characterized by initial rightward conjugate eye deviation, followed by convergent strabismus due to adduction of the right eye towards the nose without conjugate left eye abduction (esotropia), forced leftward head deviation with impaired awareness, and subsequent evolution into a bilateral tonic-clonic seizure...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30075883/risk-factors-of-cognitive-impairment-in-pediatric-epilepsy-patients-with-focal-cortical-dysplasia
#7
Nobusuke Kimura, Yukitoshi Takahashi, Hideo Shigematsu, Katsumi Imai, Hiroko Ikeda, Hideyuki Ootani, Rumiko Takayama, Yukiko Mogami, Noriko Kimura, Koichi Baba, Kazumi Matsuda, Takayasu Tottori, Naotaka Usui, Satohiko Kondou, Yushi Inoue
OBJECTIVE: The purpose of this study was to identify the risk factors of cognitive impairment in pediatric epilepsy patients with focal cortical dysplasia (FCD). METHODS: 77 patients with histopathologically confirmed FCD were studied. The statistical relationship between cognition levels and clinical factors at presurgical evaluation was analyzed. Cognitive function was evaluated by development quotient or intelligence quotient (DQ-IQ). RESULTS: Ages at seizure onset were younger than 15 years (mean ± SD; 5...
July 31, 2018: Brain & Development
https://www.readbyqxmd.com/read/30056201/meningioangiomatosis-a-review-of-the-variable-manifestations-and-complex-pathophysiology
#8
REVIEW
Christine Tomkinson, Jian-Qiang Lu
Meningioangiomatosis (MA) is a rare, complex and heterogeneous disease of meningovascular proliferation that is found primarily in the leptomeninges and cerebral cortex but can involve subcortical white matter and other brain regions such as the cerebellum and deep gray matter. MA may be found in pediatric or adult populations and may be sporadic or neurofibromatosis-associated. The presentation of MA is highly variable: it may be associated with other neurological diseases; clinically presents on a spectrum from asymptomatic to seizures or focal deficits; radiologically presents with multifocal, tumor-like, or cystic lesions, or may appear normal; and pathologically may have cellular or vascular predominance...
September 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/30048676/notch-signaling-in-human-ips-derived-neuronal-progenitor-lines-from-focal-cortical-dysplasia-patients
#9
F Majolo, D R Marinowic, D C Machado
Focal Cortical Dysplasia (FCD), a common type of Malformations of cortical development, may result from an early disturbance in the migration and final arrangement of the cortical architecture of immature neurons. FCD type II is now known to be due to a post-zygotic somatic mutation that involves the mTOR and AKT pathways. The aim of the present study was to investigate the possible differences in neurogenesis and neurodifferentiation of iPSCs (induced pluripotent stem cells) from fibroblasts of individuals affected by FCD type II (2) and normal individuals (2)...
July 23, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/30023174/neurosurgical-treatment-of-nonconvulsive-status-epilepticus-due-to-focal-cortical-dysplasia
#10
Emin Timer, Saeid Charsouei, Nerses Bebek, Betül Baykan, Bilge Bilgiç, Pulat Akın Sabancı, Yavuz Aras, Nail İzgi, Candan Gürses
We present a rare case of focal cortical dysplasia (FCD) and nonconvulsive status epilepticus (NCSE) treated successfully with early surgical intervention. Our case is a 9-year-old boy whose seizures, characterized by short episodes of loss of consciousness, appeared at the age of 7, and he showed progressive cognitive decline in the following years. NCSE was diagnosed, and his MRI revealed FCD in the left frontal region which was the same side as his EEG abnormality. Following lesionectomy, his NCSE disappeared and cognitive functions improved...
2018: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/30017287/quantitative-volume-based-morphometry-in-focal-cortical-dysplasia-a-pilot-study-for-lesion-localization-at-the-individual-level
#11
Xin Chen, Tianyi Qian, Bénédicte Maréchal, Guojun Zhang, Tao Yu, Zhiwei Ren, Duanyu Ni, Chang Liu, Yongjuan Fu, Nan Chen, Kuncheng Li
PURPOSE: Surgical resection is the most effective treatment for focal cortical dysplasia (FCD). However, many patients with FCD have unremarkable or even negative findings on conventional magnetic resonance imaging (MRI). In this study, we explored the brain volume abnormalities of FCD patients at the individual level using an experimental volume-based morphometry algorithm and further estimated whether the volume abnormalities can help in the detection of FCD lesions. MATERIALS AND METHODS: Sixteen patients with histologically-proven FCD lesions were retrospectively studied...
August 2018: European Journal of Radiology
https://www.readbyqxmd.com/read/30008021/dynamics-of-seizure-induced-behavioral-and-autonomic-arousal
#12
Emilia Toth, Ganne Chaitanya, Michael Pogwizd, Diana Pizarro, Adeel Ilyas, Steven Pogwizd, Sandipan Pati
PURPOSE: Arousal is the most primitive, powerful instinct with survival benefit present in all vertebrates. Even though the arousal systems are classically viewed as "ascending" brainstem phenomena, there is a "descending" cortical feedback system that maintains consciousness. In this study, we provide electrophysiological confirmation that seizures localized to the anterior cingulum can behaviorally manifest as paroxysms of arousal from sleep. METHODS: Temporal dynamics of arousal induced by anterior cingulate seizures were analyzed by using multiple modalities including stereoelectroencephalography (phase lag index and phase amplitude coupling), lead-1 ECG (point-process heart rate variability analysis) and diffusion tractography (DTI)...
July 14, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29984157/coregistrating-magnetic-source-and-magnetic-resonance-imaging-for-epilepsy-surgery-in-focal-cortical-dysplasia
#13
Burkhard S Kasper, Karl Rössler, Hajo M Hamer, Arnd Dörfler, Ingmar Blümcke, Roland Coras, Julie Roesch, Angelika Mennecke, Jörg Wellmer, Björn Sommer, Bogdan Lorber, Johannes D Lang, Wolfgang Graf, Hermann Stefan, Stefan Schwab, Michael Buchfelder, Stefan Rampp
Background: Epilepsy surgery for focal cortical dysplasia type II (FCD II) offers good chances for seizure freedom, but remains a challenge with respect to lesion detection, defining the epileptogenic zone and the optimal resection strategy. Integrating results from magnetic source imaging from magnetoencephalography (MEG) with magnetic resonance imaging (MRI) including MRI postprocessing may be useful for optimizing these goals. Methods: We here present data from 21 adult FCD II patients, investigated during a 10 year period and evaluated including magnetic source imaging...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29963006/multimodality-image-post-processing-in-detection-of-extratemporal-mri-negative-cortical-dysplasia
#14
Wen-Han Hu, Xiu Wang, Li-Na Liu, Xiao-Qiu Shao, Kai Zhang, Yan-Shan Ma, Lin Ai, Jun-Ju Li, Jian-Guo Zhang
Purpose: To determine the diagnostic value of individual image post-processing techniques in a series of patients who underwent extratemporal operations for histologically proven, MRI-negative focal cortical dysplasia (FCD). Methods: The morphometric analysis program (MAP), PET/MRI co-registration and statistical parametric mapping (SPM) analysis of PET (SPM-PET) techniques were analyzed in 33 consecutive patients. The epileptogenic zone (EZ) assumed by MAP, PET/MRI, and SPM-PET was compared with the location of the FCD lesions determined by stereoelectroencephalography (SEEG) and histopathological study...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29953586/quantitative-positron-emission-tomography-guided-magnetic-resonance-imaging-postprocessing-in-magnetic-resonance-imaging-negative-epilepsies
#15
Yicong Lin, Yu-Hua Dean Fang, Guiyun Wu, Stephen E Jones, Richard A Prayson, Ahsan N V Moosa, Margit Overmyer, James Bena, Mykol Larvie, William Bingaman, Jorge A Gonzalez-Martinez, Imad M Najm, Andreas V Alexopoulos, Z Irene Wang
OBJECTIVE: Detection of focal cortical dysplasia (FCD) is of paramount importance in epilepsy presurgical evaluation. Our study aims at utilizing quantitative positron emission tomography (QPET) analysis to complement magnetic resonance imaging (MRI) postprocessing by a morphometric analysis program (MAP) to facilitate automated identification of subtle FCD. METHODS: We retrospectively included a consecutive cohort of surgical patients who had a negative preoperative MRI by radiology report...
June 28, 2018: Epilepsia
https://www.readbyqxmd.com/read/29950674/identification-of-genes-associated-with-cortical-malformation-using-a-transposon-mediated-somatic-mutagenesis-screen-in-mice
#16
I-Ling Lu, Chien Chen, Chien-Yi Tung, Hsin-Hung Chen, Jia-Ping Pan, Chia-Hsiang Chang, Jia-Shing Cheng, Yi-An Chen, Chun-Hung Wang, Chia-Wei Huang, Yi-Ning Kang, Hsin-Yun Chang, Lei-Li Li, Kai-Ping Chang, Yang-Hsin Shih, Chi-Hung Lin, Shang-Yeong Kwan, Jin-Wu Tsai
Mutations in genes involved in the production, migration, or differentiation of cortical neurons often lead to malformations of cortical development (MCDs). However, many genetic mutations involved in MCD pathogenesis remain unidentified. Here we developed a genetic screening paradigm based on transposon-mediated somatic mutagenesis by in utero electroporation and the inability of mutant neuronal precursors to migrate to the cortex and identified 33 candidate MCD genes. Consistent with the screen, several genes have already been implicated in neural development and disorders...
June 27, 2018: Nature Communications
https://www.readbyqxmd.com/read/29945038/mtor-pathway-in-focal-cortical-dysplasia-type-2-what-do-we-know
#17
REVIEW
Fernanda Majolo, Daniel Rodrigo Marinowic, Denise Cantarelli Machado, Jaderson Costa Da Costa
Focal cortical dysplasia (FCD) is the most commonly encountered developmental malformation that causes refractory epilepsy. Focal cortical dysplasia type 2 is one of the most usual neuropathological findings in tissues resected therapeutically from patients with drug-resistant epilepsy. Unlike other types of FCD, it is characterized by laminar disorganization and dysplastic neurons, which compromise the organization of the six histologically known layers in the cortex; the morphology and/or cell location can also be altered...
August 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29937275/brain-somatic-mutations-in-mtor-disrupt-neuronal-ciliogenesis-leading-to-focal-cortical-dyslamination
#18
Sang Min Park, Jae Seok Lim, Suresh Ramakrishina, Se Hoon Kim, Woo Kyeong Kim, Junehawk Lee, Hoon-Chul Kang, Jeremy F Reiter, Dong Seok Kim, Hyongbum Henry Kim, Jeong Ho Lee
Focal malformations of cortical development (FMCDs), including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are major etiologies of pediatric intractable epilepsies exhibiting cortical dyslamination. Brain somatic mutations in MTOR have recently been identified as a major genetic cause of FMCDs. However, the molecular mechanism by which these mutations lead to cortical dyslamination remains poorly understood. Here, using patient tissue, genome-edited cells, and mouse models with brain somatic mutations in MTOR, we discovered that disruption of neuronal ciliogenesis by the mutations underlies cortical dyslamination in FMCDs...
July 11, 2018: Neuron
https://www.readbyqxmd.com/read/29920583/5-aminolevulinic-acid-induced-fluorescence-in-focal-cortical-dysplasia-report-of-3-cases
#19
David W Roberts, Jaime J Bravo, Jonathan D Olson, William F Hickey, Brent T Harris, Lananh N Nguyen, Jennifer Hong, Linton T Evans, Xiaoyao Fan, Dennis Wirth, Brian C Wilson, Keith D Paulsen
BACKGROUND: Three patients enrolled in a clinical trial of 5-aminolevulinic-acid (5-ALA)-induced fluorescence-guidance, which has been demonstrated to facilitate intracranial tumor resection, were found on neuropathological examination to have focal cortical dysplasia (FCD). OBJECTIVE: To evaluate in this case series visible fluorescence and quantitative levels of protoporphyrin IX (PpIX) during surgery and correlate these findings with preoperative magnetic resonance imaging (MRI) and histopathology...
June 16, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29909256/task-induced-gamma-band-effect-in-type-ii-focal-cortical-dysplasia-an-exploratory-study
#20
Sabrine Souci, Mathilde Petton, Julien Jung, Pierre Bourdillon, Romain Bouet, Aurélie Richard-Mornas, Nathalie Streichenberger, Hélène Catenoix, Alexandra Montavont, Jean Isnard, Marc Guenot, Philippe Kahane, Jean-Philippe Lachaux, Sylvain Rheims
OBJECTIVE: Few data are available about the functionality of type II focal cortical dysplasia (FCD). Identification of high-frequency activities (HFAs) induced by cognitive tasks has been proposed as an additional way to map cognitive functions in patients undergoing presurgical evaluation using stereoelectroencephalography (SEEG). However, the repetitive subcontinuous spiking pattern which characterizes type II FCD might limit the reliability of this approach, and its feasibility in these patients remains to be evaluated...
August 2018: Epilepsy & Behavior: E&B
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