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Focal AND Cortical AND Dysplasia

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https://read.qxmd.com/read/30762606/the-role-of-somatic-mutational-events-in-the-pathogenesis-of-epilepsy
#1
Philip H Iffland, Peter B Crino
PURPOSE OF REVIEW: There has been rapid progress in defining novel causative gene variants responsible for a large spectrum of human epilepsy syndromes and subtypes. Of particular interest is the discovery that somatic mutations, for example, noninherited mutations occurring in neuroglial progenitor cells during embryonic brain development, are highly linked to malformations of cortical development (MCD) such as focal cortical dysplasia (FCD) type II and hemimegalencephaly. RECENT FINDINGS: Somatic gene variants have been identified in genes encoding regulatory proteins within the mechanistic target of rapamycin (mTOR) signaling cascade and have thus comprised the group classified as mTORopathies...
February 11, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/30761153/evidence-for-innate-and-adaptive-immune-responses-in-a-cohort-of-intractable-pediatric-epilepsy-surgery-patients
#2
Geoffrey C Owens, Alejandro J Garcia, Aaron Y Mochizuki, Julia W Chang, Samuel D Reyes, Noriko Salamon, Robert M Prins, Gary W Mathern, Aria Fallah
Brain-infiltrating lymphocytes (BILs) were isolated from resected brain tissue from 10 pediatric epilepsy patients who had undergone surgery for Hemimegalencephaly (HME) ( n = 1), Tuberous sclerosis complex (TSC) ( n = 2), Focal cortical dysplasia (FCD) ( n = 4), and Rasmussen encephalitis (RE) ( n = 3). Peripheral blood mononuclear cells (PBMCs) were also isolated from blood collected at the time of the surgery. Cells were immunostained with a panel of 20 antibody markers, and analyzed by mass cytometry. To identify and quantify the immune cell types in the samples, an unbiased clustering method was applied to the entire data set...
2019: Frontiers in Immunology
https://read.qxmd.com/read/30723398/cortical-layer-and-spectrotemporal-architecture-of-epileptiform-activity-in-vivo-in-a-mouse-model-of-focal-cortical-malformation
#3
Anthony J Williams, Qian-Quan Sun
Our objective is to examine the layer and spectrotemporal architecture and laminar distribution of high-frequency oscillations (HFOs) in a neonatal freeze lesion model of focal cortical dysplasia (FCD) associated with a high prevalence of spontaneous spike-wave discharges (SWDs). Electrophysiological recording of local field potentials (LFPs) in control and freeze lesion animals were obtained with linear micro-electrode arrays to detect presence of HFOs as compared to changes in spectral power, signal coherence, and single-unit distributions during "hyper-excitable" epochs of anesthesia-induced burst-suppression (B-S)...
2019: Frontiers in Neural Circuits
https://read.qxmd.com/read/30716026/multiscale-functional-clustering-reveals-frequency-dependent-brain-organization-in-type-ii-focal-cortical-dysplasia-with-sleep-hypermotor-epilepsy
#4
Stefania Coelli, Eleonora Maggioni, Annalisa Rubino, Chiara Campana, Lino Nobili, Anna Maria Bianchi
OBJECTIVE: A multiscale functional clustering approach is proposed to investigate the organization of the epileptic networks (EN) during different sleep stages and in relation with the occurrence of seizures. METHOD: Stereo-electroencephalographic signals from seven pharmaco-resistant epileptic patients (FCD type II) were analyzed. The discrete wavelet transform provided a multiscale framework on which a data-driven functional clustering procedure was applied, based on multivariate measures of integration and mutual information...
February 1, 2019: IEEE Transactions on Bio-medical Engineering
https://read.qxmd.com/read/30705820/adult-onset-rasmussen-s-syndrome-with-associated-cortical-dysplasia
#5
C Ákos Szabó, Rachel Garvin, Shaheryar Hafeez, Ali Seifi, Linda Leary, Ratna Bhavaraju-Sanka, James M Henry, Alex M Papanastassiou
We describe a 23-year-old woman with previous right temporal lobe surgeries for underlying cortical dysplasia, presenting with drug-resistant right hemispheric seizures and epilepsia partialis continua (EPC). After anti-seizure medication adjustments, she developed focal status epilepticus with progressive EEG and neuroimaging changes. Cerebrospinal fluid and serum autoimmune panels were negative except for an elevated serum acetylcholine-receptor antibody titer, but she underwent immunosuppressive therapy...
2019: Epilepsy & Behavior Case Reports
https://read.qxmd.com/read/30700531/mtor-hyperactivity-levels-influence-the-severity-of-epilepsy-and-associated-neuropathology-in-an-experimental-model-of-tuberous-sclerosis-complex-and-focal-cortical-dysplasia
#6
Lena H Nguyen, Travorn Mahadeo, Angelique Bordey
Tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) are focal malformations of cortical development (FMCDs) that are highly associated with intractable epilepsy. TSC and FCD are mTORopathies caused by a spectrum of pathogenic variants in the mechanistic target of rapamycin (mTOR) pathway genes leading to differential activation of mTOR signaling. However, whether the degree of mTOR hyperactivity influences disease severity remains unclear. Here, we examined the effects of differential mTOR hyperactivity levels on epilepsy and associated neuropathology in a mouse model of TSC and FCD...
January 30, 2019: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://read.qxmd.com/read/30695892/-tuberous-sclerosis-complex-presenting-with-a-single-focal-cortical-dysplasia-on-magnetic-resonance-imaging
#7
S F Lin, Y Chen, J M Song, Q Chen, F Q Wen, J X Liao
No abstract text is available yet for this article.
February 2, 2019: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/30685877/voxel-based-morphometric-mri-postprocessing-in-nonlesional-pediatric-epilepsy-patients-using-pediatric-normal-databases
#8
Wei Wang, Yicong Lin, Shan Wang, Stephen Jones, Richard Prayson, Ahsan N V Moosa, Aaron McBride, Jorge Gonzalez-Martinez, William Bingaman, Imad Najm, Andreas Alexopoulos, Irene Wang
OBJECTIVE: Presurgical evaluation of pediatric patients with drug-resistant focal epilepsy and negative (nonlesional) MRI is particularly challenging. Focal cortical dysplasia (FCD), a frequent pathological substrate in such setting, may be subtle on MRI and evade detection. The aim of this study was to use voxel-based MRI postprocessing to improve detection of subtle FCD in pediatric surgical candidates. METHODS: We included a consecutive cohort of pediatric patients undergoing presurgical evaluation with a negative MRI by visual analysis...
January 27, 2019: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://read.qxmd.com/read/30677308/malformations-of-cerebral-cortex-development-molecules-and-mechanisms
#9
Gordana Juric-Sekhar, Robert F Hevner
Malformations of cortical development encompass heterogeneous groups of structural brain anomalies associated with complex neurodevelopmental disorders and diverse genetic and nongenetic etiologies. Recent progress in understanding the genetic basis of brain malformations has been driven by extraordinary advances in DNA sequencing technologies. For example, somatic mosaic mutations that activate mammalian target of rapamycin signaling in cortical progenitor cells during development are now recognized as the cause of hemimegalencephaly and some types of focal cortical dysplasia...
January 24, 2019: Annual Review of Pathology
https://read.qxmd.com/read/30642755/identifying-lesions-in-paediatric-epilepsy-using-morphometric-and-textural-analysis-of-magnetic-resonance-images
#10
Sancgeetha Kulaseharan, Azad Aminpour, Mehran Ebrahimi, Elysa Widjaja
We seek to examine the use of an image processing pipeline on Magnetic Resonance Imaging (MRI) to identify features of Focal Cortical Dysplasia (FCD) in children who were suspected to have FCD on MRI (MRI-positive) and those with MRI-negative epilepsy. We aim to use a computer-aided diagnosis system to identify epileptogenic lesions with a combination of established morphometric features and textural analysis using Gray-Level Co-occurrence Matrices (GLCM) on MRI sequences. We implemented a modified version of the 2-Step Bayesian classifier method to a paediatric cohort with medically intractable epilepsy with MRI-positive and MRI-negative epilepsy, and evaluated the performance of the algorithm trained on textural features derived from T1-weighted (T1-w), T2-weighted (T2-w), and FLAIR (Fluid Attenuated Inversion Recovery) sequences...
January 4, 2019: NeuroImage: Clinical
https://read.qxmd.com/read/30618221/antiepileptic-drug-withdrawal-after-surgery-in-children-with-focal-cortical-dysplasia-seizure-recurrence-and-its-predictors
#11
Sun Ah Choi, Soo Yeon Kim, Woo Joong Kim, Young Kyu Shim, Hunmin Kim, Hee Hwang, Ji Eun Choi, Byung Chan Lim, Jong Hee Chae, Sangjoon Chong, Ji Yeoun Lee, Ji Hoon Phi, Seung Ki Kim, Kyu Chang Wang, Ki Joong Kim
BACKGROUND AND PURPOSE: This study investigated the seizure recurrence rate and potential predictors of seizure recurrence following antiepileptic drug (AED) withdrawal after resective epilepsy surgery in children with focal cortical dysplasia (FCD). METHODS: We retrospectively analyzed the records of 70 children and adolescents with FCD types I, II, and IIIa who underwent resective epilepsy surgery between 2004 and 2015 and were followed for at least 2 years after surgery...
January 2019: Journal of Clinical Neurology
https://read.qxmd.com/read/30597612/gabaergic-transmission-underlies-interictal-epileptogenicity-in-pediatric-fcd
#12
Thomas Blauwblomme, Elena Dossi, Christophe Pellegrino, Emmanuelle Goubert, Beatriz Gal Iglesias, Christian Sainte-Rose, Nathalie Rouach, Rima Nabbout, Gilles Huberfeld
OBJECTIVE: Dysregulation of GABAergic transmission has been reported in lesional acquired epilepsies (gliomas, hippocampal sclerosis). We investigated its involvement in a developmental disorder, human Focal Cortical Dysplasia, focusing on chloride regulation driving GABAergic signals. METHODS: In vitro recordings of 47 human cortical acute slices from 11 pediatric patients operated from a Focal Cortical Dysplasia were performed on Multi Electrode Arrays. GABAergic receptors and chloride regulators were pharmacologically modulated...
December 31, 2018: Annals of Neurology
https://read.qxmd.com/read/30591281/laser-interstitial-thermotherapy-litt-in-pediatric-epilepsy-surgery
#13
REVIEW
Christian Hoppe, Christoph Helmstaedter
Laser interstitial thermotherapy (LiTT) is a novel stereotactic approach to the surgical treatment of severe drug-resistant focal epilepsies. This review extends our recent general review on this topic (Hoppe et al. Laser interstitial thermotherapy [LiTT] in epilepsy surgery. Seizure 2017; 48:45-52) with a focus on children (age <18 years). A PubMed search retrieved 25 uncontrolled case series reports that included a total of 179 pediatric patients as well as 7 review papers that specifically referred to using LiTT in pediatric epilepsy surgery (due August 31, 2018)...
December 18, 2018: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/30588603/localization-yield-and-seizure-outcome-in-patients-undergoing-bilateral-seeg-exploration
#14
Claude Steriade, William Martins, Juan Bulacio, Marcia E Morita-Sherman, Dileep Nair, Ajay Gupta, William Bingaman, Jorge Gonzalez-Martinez, Imad Najm, Lara Jehi
OBJECTIVE: We aimed to determine the rates and predictors of resection and seizure freedom after bilateral stereo-electroencephalography (SEEG) implantation. METHODS: We reviewed 184 patients who underwent bilateral SEEG implantation (2009-2015). Noninvasive and invasive evaluation findings were collected. Outcomes of interest included subsequent resection and seizure freedom. Statistical analyses employed multivariable logistic regression and proportional hazard modeling...
December 26, 2018: Epilepsia
https://read.qxmd.com/read/30586385/comprehensive-cross-disorder-analyses-of-cntnap2-suggest-it-is-unlikely-to-be-a-primary-risk-gene-for-psychiatric-disorders
#15
Claudio Toma, Kerrie D Pierce, Alex D Shaw, Anna Heath, Philip B Mitchell, Peter R Schofield, Janice M Fullerton
The contactin-associated protein-like 2 (CNTNAP2) gene is a member of the neurexin superfamily. CNTNAP2 was first implicated in the cortical dysplasia-focal epilepsy (CDFE) syndrome, a recessive disease characterized by intellectual disability, epilepsy, language impairments and autistic features. Associated SNPs and heterozygous deletions in CNTNAP2 were subsequently reported in autism, schizophrenia and other psychiatric or neurological disorders. We aimed to comprehensively examine evidence for the role of CNTNAP2 in susceptibility to psychiatric disorders, by the analysis of multiple classes of genetic variation in large genomic datasets...
December 26, 2018: PLoS Genetics
https://read.qxmd.com/read/30577071/differences-in-pediatric-and-adult-epilepsy-surgery-a-comparison-at-one-center-from-1990-to-2014
#16
Thomas Cloppenborg, Theodor W May, Ingmar Blümcke, Susanne Fauser, Philip Grewe, Johanna L Hopf, Thilo Kalbhenn, Tilman Polster, Reinhard Schulz, Friedrich G Woermann, Christian G Bien
OBJECTIVE: Surgical volumes at large epilepsy centers are decreasing. Pediatric cohorts, however, show a trend toward more resections and superior outcome. Differences in pediatric and adult epilepsy surgery were investigated in our cohort. METHODS: The Bethel database between 1990 and 2014 was retrospectively analyzed. RESULTS: A total of 1916 adults and 1300 children underwent presurgical workup. The most common etiologies were medial temporal sclerosis (35...
December 21, 2018: Epilepsia
https://read.qxmd.com/read/30572989/-etiology-and-clinical-features-of-epilepsia-partialis-continua-an-analysis-of-six-cases
#17
Mu Zhang, Zhen-Li Tang, Li-Wen Wu, Li Yang, Xiao-Le Wang, Fei Yin, Jing Peng, Chen Chen
OBJECTIVE: To investigate the etiology and clinical features of epilepsia partialis continua (EPC) in children. METHODS: A retrospective analysis was performed for the clinical features, diagnosis and treatment of six children with EPC, and the clinical and laboratory features and prognosis were compared between the children with different etiologies. RESULTS: There were five girls and one boy, with an onset age ranging from one year and seven months to nine years...
December 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://read.qxmd.com/read/30569621/recurrent-mosaic-mtor-c-5930c-t-p-thr1977ile-variant-causing-megalencephaly-asymmetric-polymicrogyria-and-cutaneous-pigmentary-mosaicism-case-report-and-review-of-the-literature
#18
Maureen Handoko, Lisa T Emrick, Jill A Rosenfeld, Xia Wang, Alyssa A Tran, Alicia Turner, John W Belmont, Brendan H Lee, Carlos A Bacino, Hsiao-Tuan Chao
Genetic alterations leading to overactivation of mammalian target of rapamycin (mTOR) signaling result in brain overgrowth syndromes such as focal cortical dysplasia (FCD) and megalencephaly. Megalencephaly with cutis tri-color of the Blaschko-linear type pigmentary mosaicism and intellectual disability is a rare neurodevelopmental disorder attributed to the recurrent mosaic c.5930C > T (p.Thr1977Ile) MTOR variant. This variant was previously reported at low to intermediate levels of mosaicism in the peripheral blood of three unrelated individuals with consistent clinical findings...
December 19, 2018: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30568293/genome-wide-dna-methylation-and-rnaseq-analyses-identify-aberrant-signalling-pathways-in-focal-cortical-dysplasia-fcd-type-ii
#19
Aparna Banerjee Dixit, Devina Sharma, Manjari Tripathi, Arpna Srivastava, Debasmita Paul, Deepak Prakash, Chitra Sarkar, Krishan Kumar, Jyotirmoy Banerjee, P Sarat Chandra
Focal cortical dysplasia (FCD) is one of the most common pathologies associated with drug-resistant epilepsy (DRE). The pharmacological targets remain obscured, as the molecular mechanisms underlying FCD are unclear. Implications of epigenetically modulated aberrant gene expression in disease progression are reported in various DRE pathologies except FCD. Here we performed genome-wide CpG-DNA methylation profiling by methylated DNA immunoprecipitation (MeDIP) microarray and RNA sequencing (RNAseq) on cortical tissues resected from FCD type II patients...
December 19, 2018: Scientific Reports
https://read.qxmd.com/read/30546403/surgical-strategy-for-temporal-lobe-epilepsy-with-dual-pathology-and-incomplete-evidence-from-eeg-and-neuroimaging
#20
Lan Luan, Yuqiang Sun, Kang Yang
Coexistence of hippocampal sclerosis (HS) and a temporal neocortical lesion, including focal cortical dysplasia, vascular malformations or benign primary brain tumors, is defined as dual pathology. In the majority of cases, the complete evidence based on electroencephalogram (EEG) and magnetic resonance imaging (MRI) for each of the dual pathological lesions is difficult to obtain. As a result, patients with dual pathology are poor surgical candidates due to potential incomplete resection of the epileptogenic zone...
December 2018: Experimental and Therapeutic Medicine
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