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Focal cortical dysplasia

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https://www.readbyqxmd.com/read/28430287/dysembryoplastic-neuroepithelial-tumour-insight-into-the-pathology-and-pathogenesis
#1
Iwona Sontowska, Ewa Matyja, Jacek Malejczyk, Wieslawa Grajkowska
<i>Dysembryoplastic neuroepithelial tumour (DNT) is categorized as a benign glioneuronal neoplasm affecting children and young adults with chronic epileptic seizures. It is characterized by predominant intracortical localization and nodular architecture. Dysembryoplastic neuroepithelial tumour usually demonstrates a distinctive morphological pattern with a specific glioneuronal element but occasionally, its morphological picture is heterogeneous and unspecific. Thus, considering the morphology of DNT, three different histopathological subtypes are distinguished: simple, complex, and non-specific and diffuse...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28427592/pathologic-active-mtor-mutation-in-brain-malformation-with-intractable-epilepsy-leads-to-cell-autonomous-migration-delay
#2
Sae Hanai, Sayuri Sukigara, Hongmei Dai, Tomoo Owa, Shin-Ichi Horike, Taisuke Otsuki, Takashi Saito, Eiji Nakagawa, Naoki Ikegaya, Takanobu Kaido, Noriko Sato, Akio Takahashi, Kenji Sugai, Yuko Saito, Masayuki Sasaki, Mikio Hoshino, Yu-Ichi Goto, Schuichi Koizumi, Masayuki Itoh
The activation of phosphatidylinositol 3-kinase-AKTs-mammalian target of rapamycin cell signaling pathway leads to cell overgrowth and abnormal migration and results in various types of cortical malformations, such as hemimegalencephaly (HME), focal cortical dysplasia, and tuberous sclerosis complex. However, the pathomechanism underlying abnormal cell migration remains unknown. With the use of fetal mouse brain, we performed causative gene analysis of the resected brain tissues from a patient with HME and investigated the pathogenesis...
May 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28427499/coexistent-venous-angioma-and-focal-cortical-dysplasia
#3
Richard A Prayson, Elizabeth E O'Toole
No abstract text is available yet for this article.
April 21, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28410464/surgical-outcomes-in-two-different-age-groups-with-focal-cortical-dysplasia-type-ii-any-real-difference
#4
Jorge Luis Ramírez-Molina, Roberta Di Giacomo, Valeria Mariani, Francesco Deleo, Francesco Cardinale, Angélica María Uscátegui-Daccarett, Pablo Lorenzana, Laura Tassi
OBJECTIVE: Focal Cortical Dysplasias (FCDs) represent a common architectural cortical disorder underlying drug-resistant focal epilepsy. So far, studies aimed at evaluating whether age at surgery is a factor influencing surgical outcome are lacking, so that data on the comparison between patients harboring Type II FCD operated at younger age and those operated at adult age are still scarce. We compared presurgical clinical features and surgical outcomes of patients with histopathologically diagnosed Type II FCD undergoing surgery at an earlier age with those operated after 20 years of age...
April 11, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28410084/clinical-and-electroencephalographic-characteristics-of-infantile-onset-epilepsies-caused-by-genetic-mutations
#5
Yun Jung Hur, Sookyong Koh, John Millichap, Srishti Nangia, Lawrence J Jennings, Douglas R Nordli
OBJECTIVES: To determine whether certain characteristic electroencephalography (EEG) features are indicative of a genetic cause in early-life epilepsy. STUDY DESIGN: We enrolled a total of 100 patients with infantile-onset (<3 years) epilepsy due to known genetic cause (n?=?50) and nongenetic cause (acquired, structural, or unknown, n?=?50). The genetic group was classified into synaptopathies, channelopathies, mTOR (mammalian target of rapamycin)-opathies, and chromosomal abnormalities...
March 2, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28406046/depdc5-as-a-potential-therapeutic-target-for-epilepsy
#6
Kenneth A Myers, Ingrid E Scheffer
Dishevelled, Egl-10 and Pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a protein subunit of the GTPase-activating proteins towards Rags 1 (GATOR1) complex. GATOR1 is a recently identified modulator of mechanistic target of rapamycin (mTOR) activity. mTOR is a key regulator of cell proliferation and metabolism; disruption of the mTOR pathway is implicated in focal epilepsy, both acquired and genetic. Tuberous sclerosis is the prototypic mTOR genetic syndrome with epilepsy, however GATOR1 gene mutations have recently been shown to cause lesional and non-lesional focal epilepsy...
April 13, 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28401614/suppression-of-interictal-spikes-during-phasic-rapid-eye-movement-sleep-a-quantitative-stereo-electroencephalography-study
#7
C Campana, F Zubler, S Gibbs, F de Carli, P Proserpio, A Rubino, M Cossu, L Tassi, K Schindler, L Nobili
Tonic and phasic rapid eye movement (REM) sleep seem to represent two different brain states exerting different effects on epileptic activity. In particular, interictal spikes are suppressed strongly during phasic REM sleep. The reason for this effect is not understood completely. A different level of synchronization in phasic and tonic REM sleep has been postulated, yet never measured directly. Here we assessed the interictal spike rate across non-REM (NREM) sleep, phasic and tonic REM sleep in nine patients affected by drug resistant focal epilepsy: five with type II focal cortical dysplasia and four with hippocampal sclerosis...
April 12, 2017: Journal of Sleep Research
https://www.readbyqxmd.com/read/28393712/therapeutic-role-of-synaptic-vesicle-glycoprotein-2a-sv2a-in-modulating-epileptogenesis
#8
Yukihiro Ohno, Kentaro Tokudome
Dysfunction of synaptic neurotransmitter release is closely involved in the pathogenesis of various central nervous system diseases. Synaptic vesicle glycoprotein 2A (SV2A) is a membrane protein specifically expressed in synaptic vesicles and it modulates action potential-dependent neurotransmitter release in the brain. Since 1) SV2A-knockout mice exhibit severe convulsive seizures, 2) SV2A expression in the brain is reportedly altered in various epileptic disorders both in animal models (e.g., kindling and genetic models) and humans (e...
April 4, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28384161/microrna-hsa-mir-134-is-a-circulating-biomarker-for-mesial-temporal-lobe-epilepsy
#9
Simoni H Avansini, Beatriz Pereira de Sousa Lima, Rodrigo Secolin, Marilza L Santos, Ana Carolina Coan, André S Vieira, Fábio R Torres, Benilton S Carvalho, Marina K M Alvim, Márcia E Morita, Clarissa L Yasuda, Luciana R Pimentel-Silva, Danyella B Dogini, Fabio Rogerio, Fernando Cendes, Iscia Lopes-Cendes
Epilepsy is misdiagnosed in up to 25% of patients, leading to serious and long-lasting consequences. Recently, circulating microRNAs have emerged as potential biomarkers in a number of clinical scenarios. The purpose of this study was to identify and to validate circulating microRNAs that could be used as biomarkers in the diagnosis of epilepsy. Quantitative real-time PCR was used to measure plasma levels of three candidate microRNAs in two phases of study: an initial discovery phase with 14 patients with mesial temporal lobe epilepsy (MTLE), 13 with focal cortical dysplasia (FCD) and 16 controls; and a validation cohort constituted of an independent cohort of 65 patients with MTLE and 83 controls...
2017: PloS One
https://www.readbyqxmd.com/read/28379049/a-case-of-epilepsy-in-multiple-sclerosis-three-dimensional-double-inversion-recovery-sequences-revealed-cortical-dysplasia
#10
Domenico S Zimatore, Mirko Trentadue, Marco Castellaro, Monica Ferlisi, Enrico Piovan, Massimiliano Calabrese
In epileptic patients with multiple sclerosis (MS), cortical lesions have been suggested to cause seizures. In brain magnetic resonance imaging (MRI), double inversion recovery (DIR) sequences are generally used to evaluate MS cortical disease burden. We present the case of a woman, diagnosed with MS, suffering from drug-resistant partial seizures initially attributed to MS. The patient underwent many MRI exams, but only by means of high-resolution three-dimensional DIR sequences was a focal cortical dysplasia discovered...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28364455/cntnap2-knockout-rats-and-mice-exhibit-epileptiform-activity-and-abnormal-sleep-wake-physiology
#11
Alexia M Thomas, Michael D Schwartz, Michael D Saxe, Thomas S Kilduff
Study Objectives: Although recent innovations have enabled modification of the rat genome, it is unclear whether enhanced utility of rodents as human disease models will result. We compared electroencephalogram (EEG) and behavioral phenotypes of rats and mice with homozygous deletion of Cntnap2, a gene associated with cortical dysplasia-focal epilepsy (CDFE) and autism spectrum disorders (ASD). Methods: Male contactin-associated protein-like 2 (Cntnap2) knockout (KO) and wild-type (WT) rats and male Cntnap2 KO and WT mice were implanted with telemeters to record EEG, electromyogram, body temperature, and locomotor activity...
January 1, 2017: Sleep
https://www.readbyqxmd.com/read/28322853/the-role-of-histopathologic-subtype-in-the-setting-of-hippocampal-sclerosis-associated-mesial-temporal-lobe-epilepsy
#12
Jordan M Gales, Lara Jehi, Amy Nowacki, Richard A Prayson
Hippocampal sclerosis (HS) and focal cortical dysplasia (FCD) are among the most common neuropathological findings in those undergoing surgery for refractory mesial temporal lobe epilepsy (MTLE). Existing data regarding differences among the most recent International League Against Epilepsy (ILAE) HS subtypes remains limited. This study sought to characterize the roles of HS subtype and coexistent FCD. Epilepsy surgery pathologic specimens in 307 cases of temporal lobe epilepsy with HS were reviewed (mean age ± SD, 37 ± 15 years, 56% women)...
March 17, 2017: Human Pathology
https://www.readbyqxmd.com/read/28291425/long-term-outcomes-of-epilepsy-surgery-in-85-pediatric-patients-followed-up-for-over-10-years-a-retrospective-survey
#13
Hiroshi Hosoyama, Kazumi Matsuda, Tadahiro Mihara, Naotaka Usui, Koichi Baba, Yushi Inoue, Takayasu Tottori, Toshiaki Otsubo, Yumi Kashida, Koji Iida, Hirofumi Hirano, Ryosuke Hanaya, Kazunori Arita
OBJECTIVE The aim of this study was to investigate the treatment outcomes and social engagement of patients who had undergone pediatric epilepsy surgery more than 10 years earlier. METHODS Between 1983 and 2005, 110 patients younger than 16 years underwent epilepsy surgery at the National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders. The authors sent a questionnaire to 103 patients who had undergone follow-up for more than 10 years after surgery; 85 patients (82.5%) responded. The survey contained 4 categories: seizure outcome, use of antiepileptic drugs, social participation, and general satisfaction with the surgical treatment (resection of the epileptic focus, including 4 hemispherectomies)...
March 3, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28288357/epilepsy-prevalence-and-severity-predictors-in-mri-identified-focal-cortical-dysplasia
#14
Lauren M Maynard, James L Leach, Paul S Horn, Christine G Spaeth, Francesco T Mangano, Katherine D Holland, Lili Miles, Robert Faist, Hansel M Greiner
OBJECTIVES: To determine the prevalence of epilepsy and drug-resistant epilepsy in pediatric patients with focal cortical dysplasia (FCD) identified by magnetic resonance imaging (MRI). To determine clinical and imaging differences between those with drug-resistant epilepsy, drug-responsive epilepsy, and no epilepsy among children with MRI-identified FCD. METHODS: A keyword search of a hospital radiology database identified 97 study participants for inclusion in this retrospective study...
March 6, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28279892/thin-isotropic-flair-mr-images-at-1-5t-increase-the-yield-of-focal-cortical-dysplasia-transmantle-sign-detection-in-frontal-lobe-epilepsy
#15
Vasileios Kokkinos, Alexandros Kallifatidis, Eftychia Z Kapsalaki, Nikolaos Papanikolaou, Kyriakos Garganis
OBJECTIVE: The transmantle sign is a distinctive imaging marker of focal cortical dysplasia (FCD) type II in frontal lobe epilepsy (FLE), which is revealed predominantly by fluid-attenuation inversion recovery (FLAIR) sequences. Although the transmantle sign detection yield is high by routine imaging protocols for epilepsy at 3T, most centers around the world have access to 1.5T MR technology and FLE patients often receive negative imaging reports. This study investigates the optimization of transmantle detection yield at 1...
March 2, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28273590/upregulation-of-breast-cancer-resistance-protein-and-major-vault-protein-in-drug-resistant-epilepsy
#16
Aparna Banerjee Dixit, Devina Sharma, Arpna Srivastava, Jyotirmoy Banerjee, Manjari Tripathi, Deepak Prakash, P Sarat Chandra
PURPOSE: Identifying factors involved in the development of drug resistant epilepsy (DRE) remains a challenge. Candidate gene studies have shown modulation of resistance to drugs by various multidrug resistance proteins in DRE. However the resistance to drugs in DRE could be more complex and multifactorial involving molecules in different pharmacokinetic processes. In this study for the first time we have analyzed the relative expression of four molecules with different drug resistance mechanisms in two most common DRE pathologies, mesial temporal lobe epilepsy (MTLE) and focal cortical dysplasia (FCD) with respect to each other and also with different non-epileptic controls...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28265244/contributions-of-eeg-fmri-to-assessing-the-epileptogenicity-of-focal-cortical-dysplasia
#17
Francesca Pittau, Lorenzo Ferri, Firas Fahoum, François Dubeau, Jean Gotman
Purpose: To examine the ability of the BOLD response to EEG spikes to assess the epileptogenicity of the lesion in patients with focal cortical dysplasia (FCD). Method: Patients with focal epilepsy and FCD who underwent 3T EEG-fMRI from 2006 to 2010 were included. Diagnosis of FCD was based on neuroradiology (MRI+), or histopathology in MRI-negative cases (MRI-). Patients underwent 120 min EEG-fMRI recording session. Spikes similar to those recorded outside the scanner were marked in the filtered EEG. The lesion (in MRI+) or the removed cortex (in MRI-) was marked on the anatomical T1 sequence, blindly to the BOLD response, after reviewing the FLAIR images...
2017: Frontiers in Computational Neuroscience
https://www.readbyqxmd.com/read/28260047/induced-pluripotent-stem-cells-from-patients-with-focal-cortical-dysplasia-and-refractory-epilepsy
#18
Daniel Rodrigo Marinowic, Fernanda Majolo, Alessandra Deise Sebben, Vinicius Duval da Silva, Tiago Giuliani Lopes, Eliseu Paglioli, André Palmini, Denise Cantarelli Machado, Jaderson Costa da Costa
Focal cortical dysplasia (FCD) is caused by numerous alterations, which can be divided into abnormalities of the cortical architecture and cytological variations; however, the exact etiology of FCD remains unknown. The generation of induced pluripotent stem cells (iPSCs) from the cells of patients with neurological diseases, and their subsequent tissue‑specific differentiation, serves as an invaluable source for testing and studying the initial development and subsequent progression of diseases associated with the central nervous system...
April 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28254201/unusual-association-of-scn2a-epileptic-encephalopathy-with-severe-cortical-dysplasia-detected-by-prenatal-mri
#19
Silvia Bernardo, Enrica Marchionni, Sabrina Prudente, Paola De Liso, Alberto Spalice, Antonella Giancotti, Lucia Manganaro, Antonio Pizzuti
We present an atypical association of SCN2A epileptic encephalopathy with severe cortical dysplasia. SCN2A mutations are associated with epileptic syndromes from benign to extremely severe in absence of such macroscopic brain findings. Prenatal MRI (Magnetic Resonance Imaging) in a 32 weeks fetus, with US (Ultrasonography) diagnosis of isolated ventriculomegaly showed CNS (Central Nervous System) dysplasia characterized by lack of differentiation between cortical and subcortical layers, pachygyria and corpus callosum dysgenesis...
February 7, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28215400/somatic-mutations-in-tsc1-and-tsc2-cause-focal-cortical-dysplasia
#20
Jae Seok Lim, Ramu Gopalappa, Se Hoon Kim, Suresh Ramakrishna, Minji Lee, Woo-Il Kim, Junho Kim, Sang Min Park, Junehawk Lee, Jung-Hwa Oh, Heung Dong Kim, Chang-Hwan Park, Joon Soo Lee, Sangwoo Kim, Dong Seok Kim, Jung Min Han, Hoon-Chul Kang, Hyongbum Henry Kim, Jeong Ho Lee
Focal cortical dysplasia (FCD) is a major cause of the sporadic form of intractable focal epilepsies that require surgical treatment. It has recently been reported that brain somatic mutations in MTOR account for 15%-25% of FCD type II (FCDII), characterized by cortical dyslamination and dysmorphic neurons. However, the genetic etiologies of FCDII-affected individuals who lack the MTOR mutation remain unclear. Here, we performed deep hybrid capture and amplicon sequencing (read depth of 100×-20,012×) of five important mTOR pathway genes-PIK3CA, PIK3R2, AKT3, TSC1, and TSC2-by using paired brain and saliva samples from 40 FCDII individuals negative for MTOR mutations...
March 2, 2017: American Journal of Human Genetics
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