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Focal cortical dysplasia

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https://www.readbyqxmd.com/read/28548216/pathology-of-oligodendroglia-an-overview
#1
Takashi Komori
Oligodendroglia are cells responsible for creating myelin sheaths for axons in the CNS. However, pathologies of oligodendroglia other than demyelination are not well understood due to the lack of adequate methods of characterizing pathological conditions affecting oligodendroglia in human tissue. This review discusses three major topics with the aim of clarifying some of the controversies in the study of oligodendroglia. The oligodendroglioma, a relatively indolent form of diffuse gliomas thought to originate in oligodendrocytes, has never demonstrated myelin formation on electron microscopy nor shown a constant expression of myelin-related proteins...
May 26, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28510905/zoomed-mri-guided-by-combined-eeg-meg-source-analysis-a-multimodal-approach-for-optimizing-presurgical-epilepsy-work-up-and-its-application-in-a-multi-focal-epilepsy-patient-case-study
#2
Ü Aydin, S Rampp, A Wollbrink, H Kugel, J -H Cho, T R Knösche, C Grova, J Wellmer, C H Wolters
In recent years, the use of source analysis based on electroencephalography (EEG) and magnetoencephalography (MEG) has gained considerable attention in presurgical epilepsy diagnosis. However, in many cases the source analysis alone is not used to tailor surgery unless the findings are confirmed by lesions, such as, e.g., cortical malformations in MRI. For many patients, the histology of tissue resected from MRI negative epilepsy shows small lesions, which indicates the need for more sensitive MR sequences...
May 16, 2017: Brain Topography
https://www.readbyqxmd.com/read/28491496/towards-in-vivo-focal-cortical-dysplasia-phenotyping-using-quantitative-mri
#3
REVIEW
Sophie Adler, Sara Lorio, Thomas S Jacques, Barbora Benova, Roxana Gunny, J Helen Cross, Torsten Baldeweg, David W Carmichael
Focal cortical dysplasias (FCDs) are a range of malformations of cortical development each with specific histopathological features. Conventional radiological assessment of standard structural MRI is useful for the localization of lesions but is unable to accurately predict the histopathological features. Quantitative MRI offers the possibility to probe tissue biophysical properties in vivo and may bridge the gap between radiological assessment and ex-vivo histology. This review will cover histological, genetic and radiological features of FCD following the ILAE classification and will explain how quantitative voxel- and surface-based techniques can characterise these features...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28491494/the-relationship-between-morphological-lesion-magnetic-source-imaging-and-intracranial-stereo-electroencephalography-in-focal-cortical-dysplasia
#4
Romain Bouet, François Mauguière, Sébastien Daligault, Jean Isnard, Marc Guenot, Olivier Bertrand, Julien Jung
Magnetoencephalography (MEG) is a useful non-invasive technique for presurgical evaluation of focal cortical dysplasia patients. We aimed at clarifying the precise spatial relationship between the spiking volume determined with MEG, the seizure onset zone and the lesional volume in patients with focal cortical dysplasia. We studied the spatial relationships between the MEG spiking volume determined with a recent analysis pipeline, the seizure-onset zone location determined with a quantitative index calculated from intracranial EEG signals ('Epileptogenicity Index') and the lesional volume delineated on brain MRI in 11 patients with Focal Cortical Dysplasia explored with Stereo-electroencephalography (SEEG)...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28491196/cerebral-palsy-and-seizures-in-a-child-with-tubulinopathy-pattern-dysgenesis-and-focal-cortical-dysplasia
#5
Kevin M Sweet, Dennis W W Shaw, Teresa Chapman
A 7-year-old boy with a history of spasticity, global developmental delay, and seizures was given the general diagnosis of cerebral palsy at an early age. Chromosomal array analysis performed at an outside center was normal. The patient's family sought neurodevelopmental pediatric care at a new institution following a move out of state. Electroencephalography confirmed abnormal epileptogenic activity. Brain magnetic resonance imaging showed findings consistent with a tubulin gene defect (tubulinopathy) and of focal cortical dysplasia, as well as evidence of a remote occipital lobe injury...
June 2017: Radiology case reports
https://www.readbyqxmd.com/read/28475999/prevalence-and-risk-factors-of-seizure-clusters-in-adult-patients-with-epilepsy
#6
Baibing Chen, Hyunmi Choi, Lawrence J Hirsch, Austen Katz, Alexander Legge, Rebecca A Wong, Alfred Jiang, Kenneth Kato, Richard Buchsbaum, Kamil Detyniecki
PURPOSE: In the current study, we explored the prevalence of physician-confirmed seizure clusters. We also investigated potential clinical factors associated with the occurrence of seizure clusters overall and by epilepsy type. METHODS: We reviewed medical records of 4116 adult (≥16years old) outpatients with epilepsy at our centers for documentation of seizure clusters. Variables including patient demographics, epilepsy details, medical and psychiatric history, AED history, and epilepsy risk factors were then tested against history of seizure clusters...
April 27, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28457820/differential-roles-for-akt-and-mtorc1-in-the-hypertrophy-of-pten-mutant-neurons-a-cellular-model-of-brain-overgrowth-disorders
#7
Ina Nikolaeva, Tatiana M Kazdoba, Beth Crowell, Gabriella D'Arcangelo
Mutations in the PI3K/Akt/mTOR signaling pathway or in the upstream negative regulator Pten cause human brain overgrowth disorders, such as focal cortical dysplasia and megalencephaly, and are characterized by the presence of hypertrophic neurons. These disorders often have a pediatric onset and a high comorbidity with drug-resistant epilepsy; however, effective pharmacological treatments are lacking. We established forebrain excitatory neuron-specific Pten-deficient cultures as an in vitro model of brain overgrowth disorders, and investigated the effects of this Pten mutation on PI3K/Akt/mTOR signaling and neuronal growth...
April 27, 2017: Neuroscience
https://www.readbyqxmd.com/read/28455787/elevated-expression-of-trpc4-in-cortical-lesions-of-focal-cortical-dysplasia-ii-and-tuberous-sclerosis-complex
#8
Lu-Kang Wang, Xin Chen, Chun-Qing Zhang, Chao Liang, Yu-Jia Wei, Jiong Yue, Shi-Yong Liu, Hui Yang
Focal cortical dysplasia type II (FCD II) and tuberous sclerosis complex (TSC) are well-known causes of chronic refractory epilepsy in children. Canonical transient receptor potential channels (TRPCs) are non-selective cation channels that are commonly activated by phospholipase C (PLC) stimulation. Previous studies found that TRPC4 may participate in the process of epileptogenesis. This study aimed to examine the expression and distribution of TRPC4 in FCD II (n = 24) and TSC (n = 11) surgical specimens compared with that in age-matched autopsy control samples (n = 12)...
April 28, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28441637/subtle-pathological-changes-in-neocortical-temporal-lobe-epilepsy
#9
Juan G Ochoa, Diana Hentgarden, Audrey Paulzak, Melissa Ogden, Richard Pryson, Markus Lamle, Walter G Rusyniak
This was a prospective observational study to correlate the clinical symptoms, electrophysiology, imaging, and surgical pathology of patients with temporal lobe epilepsy (TLE) without hippocampal sclerosis. We selected consecutive patients with TLE and normal MRI undergoing temporal lobe resection between April and September 2015. Clinical features, imaging, and functional data were reviewed. Intracranial monitoring and language mapping were performed when it was required according to our team recommendation...
April 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#10
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28430287/dysembryoplastic-neuroepithelial-tumour-insight-into-the-pathology-and-pathogenesis
#11
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
#12
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
#13
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
#14
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...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28410084/clinical-and-electroencephalographic-characteristics-of-infantile-onset-epilepsies-caused-by-genetic-mutations
#15
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...
May 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28406046/depdc5-as-a-potential-therapeutic-target-for-epilepsy
#16
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
#17
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
#18
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
#19
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
#20
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
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