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Focal cortical dysplasia

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https://www.readbyqxmd.com/read/28206669/characterization-of-focal-cortical-dysplasia-with-balloon-cells-by-layer-specific-markers-evidence-for-differential-vulnerability-of-interneurons
#1
Julia M Nakagawa, Catharina Donkels, Susanne Fauser, Andreas Schulze- Bonhage, Marco Prinz, Josef Zentner, Carola A Haas
OBJECTIVE: Focal cortical dysplasia (FCD) is a major cause of pharmacoresistant focal epilepsy. Little is known about the pathomechanisms underlying the characteristic cytoarchitectural abnormalities associated with FCD. In the present study, a broad panel of markers identifying layer-specific neuron subpopulations was applied to characterize dyslamination and structural alterations in FCD with balloon cells (FCD 2b). METHODS: Pan-neuronal neuronal nuclei (NeuN) and layer-specific protein expression (Reelin, Calbindin, Calretinin, SMI32 (nonphosphorylated neurofilament H), Parvalbumin, transducin-like enhancer protein 4 (TLE4), and Vimentin) was studied by immunohistochemistry on paraffin sections of FCD2b cases (n = 22) and was compared to two control groups with (n = 7) or without epilepsy (n = 4 postmortem cases)...
February 16, 2017: Epilepsia
https://www.readbyqxmd.com/read/28175393/131%C3%A2-resective-surgery-for-focal-cortical-dysplasia-in-children-a-comparative-analysis-of-the-utility-of-intraoperative-magnetic-resonance-imaging
#2
Chima Oluigbo, Matthew Sacino, John S Myseros, Suresh N Magge, William Gaillard, Robert F Keating
No abstract text is available yet for this article.
August 1, 2016: Neurosurgery
https://www.readbyqxmd.com/read/28135561/focal-cortical-dysplasia-gene-mutations-cell-signaling-and-therapeutic-implications
#3
Philip H Iffland, Peter B Crino
Focal cortical dysplasias (FCDs) are malformations of cortical development (MCDs) that are highly associated with medication-resistant epilepsy and are the most common cause of neocortical epilepsy in children. FCDs are a heterogeneous group of developmental disorders caused by germline or somatic mutations that occur in genes regulating the PI3K/Akt/mTOR pathway-a key pathway in neuronal growth and migration. Accordingly, FCDs are characterized by abnormal cortical lamination, cell morphology (e.g., cytomegaly), and cellular polarity...
January 24, 2017: Annual Review of Pathology
https://www.readbyqxmd.com/read/28130467/multimodal-mri-profiling-of-focal-cortical-dysplasia-type-ii
#4
Seok-Jun Hong, Boris C Bernhardt, Benoit Caldairou, Jeffery A Hall, Marie C Guiot, Dewi Schrader, Neda Bernasconi, Andrea Bernasconi
OBJECTIVE: To characterize in vivo MRI signatures of focal cortical dysplasia (FCD) type IIA and type IIB through combined analysis of morphology, intensity, microstructure, and function. METHODS: We carried out a multimodal 3T MRI profiling of 33 histologically proven FCD type IIA (9) and IIB (24) lesions. A multisurface approach operating on manual consensus labels systematically sampled intracortical and subcortical lesional features. Geodesic distance mapping quantified the same features in the lesion perimeter...
January 27, 2017: Neurology
https://www.readbyqxmd.com/read/28123950/novel-surface-features-for-automated-detection-of-focal-cortical-dysplasias-in-paediatric-epilepsy
#5
Sophie Adler, Konrad Wagstyl, Roxana Gunny, Lisa Ronan, David Carmichael, J Helen Cross, Paul C Fletcher, Torsten Baldeweg
Focal cortical dysplasia is a congenital abnormality of cortical development and the leading cause of surgically remediable drug-resistant epilepsy in children. Post-surgical outcome is improved by presurgical lesion detection on structural MRI. Automated computational techniques have improved detection of focal cortical dysplasias in adults but have not yet been effective when applied to developing brains. There is therefore a need to develop reliable and sensitive methods to address the particular challenges of a paediatric cohort...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28111355/epigenetics-in-epilepsy
#6
REVIEW
K Kobow, I Blümcke
Approximately 50 million people have epilepsy, making it the most common chronic and severe neurological disease worldwide, with increased risk of mortality and psychological and socioeconomic consequences impairing quality of life. More than 30% of patients with epilepsy have inadequate control of their seizures with drug therapy. Any structural brain lesion can provoke epilepsy. However, progression of seizure activity as well as the development of drug-resistance remains difficult to predict, irrespective of the underlying epileptogenic condition, i...
January 19, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28105099/lamotrigine-decreases-mrp8-and-il-7-in-rat-models-of-intractable-epilepsy-secondary-to-focal-cortical-dysplasia
#7
Jianping Wei, Qingmei Nie, Feng Li
The aim of the present study was to examine the effect of lamotrigine and the expression of myeloid-related protein 8 (MRP8) and interleukin-7 (IL-7) in the treatment of focal cortical dysplasia with secondary intractable epilepsy. In this study, rats with focal cortical dysplasia with secondary intractable epilepsy (constructed by our laboratory) were selected and used for experimentation, 21-day Sprague-Dawley rats were randomly divided into the control group (38 rats), the observation group I (39 rats), and the observation group II (38 rats)...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28101478/focal-epileptogenic-lesions-in-adult-patients-with-epilepsy-and-generalized-epileptiform-discharges
#8
Dong Wook Kim, Seo-Young Lee, Sang Kun Lee
BACKGROUND AND PURPOSE: There are reports of successful resective epilepsy surgery for pediatric patients with epilepsy and generalized epileptiform discharges when they had focal epileptogenic lesions identified by MRI. However, there is limited information regarding adult patients with epilepsy who have both generalized epileptiform discharges and focal epileptogenic lesions. METHODS: To investigate the incidence and characteristics of adult patients who have both generalized epileptiform discharges and potentially epileptogenic lesions, we retrospectively analyzed data of clinical features and results of EEG and MRI of all patients with adult-onset epilepsy in a tertiary referral hospital...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28098941/posterior-cortex-epilepsy-surgery-in-childhood-and-adolescence-predictors-of-long-term-seizure-outcome
#9
Georgia Ramantani, Angeliki Stathi, Armin Brandt, Karl Strobl, Susanne Schubert-Bast, Gert Wiegand, Rudolf Korinthenberg, Vera van Velthoven, Josef Zentner, Andreas Schulze-Bonhage, Thomas Bast
OBJECTIVE: We aimed to investigate the long-term seizure outcome of children and adolescents who were undergoing epilepsy surgery in the parietooccipital cortex and determine their predictive factors. METHODS: We retrospectively analyzed the data of 50 consecutive patients aged 11.1 (mean) ± 5.1 (standard deviation) years at surgery. All patients but one had a magnetic resonance imaging (MRI)-visible lesion. Resections were parietal in 40%, occipital in 32%, and parietooccipital in 28% cases; 24% patients additionally underwent a resection of the posterior border of the temporal lobe...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28067998/multimodal-fiber-probe-spectroscopy-allows-detecting-epileptogenic-focal-cortical-dysplasia-in-children
#10
Suresh Anand, Riccardo Cicchi, Flavio Giordano, Valerio Conti, Anna Maria Buccoliero, Renzo Guerrini, Francesco Saverio Pavone
We evaluated the diagnostic capability of a multimodal spectroscopic approach for classifying normal brain tissue and epileptogenic focal cortical dysplasia in children. We employed fluorescence spectroscopy at two excitation wavelengths (378 nm and 445 nm) and Raman spectroscopy (at 785 nm excitation) for acquiring fluorescence and Raman spectra from 10 normal brains, 16 focal cortical dysplasia specimens and 1 cortical tuber tissue sites using a custom-built multimodal optical point spectroscopic system. We used principal component analysis combined with leave-one-sample-out-cross-validation for tissue classification...
January 9, 2017: Journal of Biophotonics
https://www.readbyqxmd.com/read/28056425/fcd-type-ii-and-mtor-pathway-evidence-for-different-mechanisms-involved-in-the-pathogenesis-of-dysmorphic-neurons
#11
Laura Rossini, Flavio Villani, Tiziana Granata, Laura Tassi, Giovanni Tringali, Francesco Cardinale, Eleonora Aronica, Roberto Spreafico, Rita Garbelli
Type II focal cortical dysplasia (FCD II) is a malformation of cortical development, frequently associated with intractable epilepsy, characterised by cortical dyslamination, dysmorphic neurons (DNs) and balloon cells (BCs). We investigated the expression of pS6 (downstream target) and pPDK1-pAkt (upstream targets) as evidence for mTOR pathway activation and their co-expression with Interleukin-1β in FCD II surgical specimens and compared the findings with control non-epileptic tissue, non-malformed epileptic tissue or acquired epilepsy-Rasmussen's Encephalitis (RE) occasionally presenting pS6 and Interleukin-1β positive abnormal neurons...
December 7, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/28036289/expression-of-pannexin-1-and-2-in-cortical-lesions-from-intractable-epilepsy-patients-with-focal-cortical-dysplasia
#12
Song Li, Zhenle Zang, Jiaojiang He, Xin Chen, Sixun Yu, Yuchun Pei, Zhi Hou, Ning An, Hui Yang, Chunqing Zhang, Shiyong Liu
Focal cortical dysplasia (FCD) is a major cause of intractable epilepsy in children however the mechanisms underlying the pathogenesis of FCD and FCD induced epilepsy remain unclear. Increasing evidence suggests that the large-pore ion channels, pannexin 1 (Panx1) and 2 (Panx2), are involved in epilepsy and brain development. In this study, we investigated the expression of Panx1 and Panx2 in surgical samples from patients with FCD type Ia (FCDIa), type IIa (FCDIIa), and type IIb (FCDIIb) and in age-matched autopsy control samples...
January 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28025990/focal-cortical-dysplasia-molecular-disturbances-and-clinicopathological-classification-review
#13
Monika Siedlecka, Wiesława Grajkowska, Ryszard Galus, Bożenna Dembowska-Bagińska, Jarosław Jóźwiak
Focal cortical dysplasia (FCD) is one of the most important causes of drug-resistant epilepsy in paediatric patients, particularly in those below the age of 3. Even though over 40 years have passed since the first description of the entity by Taylor, the exact mechanisms causing these cortical abnormalities remain unelucidated. In this review, we summarise the current knowledge on clinical and histopathological aspects, taking into account the new classification system proposed by the International League Against Epilepsy...
November 2016: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/27960132/compatibility-of-mri-and-fdg-pet-findings-with-histopathological-results-in-patients-with-focal-cortical-dysplasia
#14
Gulistan Halac, Sakir Delil, Dila Zafer, Cihan Isler, Mustafa Uzan, Nil Comunoglu, Buge Oz, S Naz Yeni, Betul Vatankulu, Metin Halac, Cıgdem Ozkara
PURPOSE: The present study aimed to determine if the specific characteristics of fluorodeoxyglucose-positron emission tomography (FDG-PET) analyses of the FCD subgroups were compatible with the magnetic resonance imaging (MRI) and clinical findings of the patients in these subgroups. METHODS: This study included 71 patients who had a presurgical evaluation workup performed due to drug-resistant seizures, who underwent epilepsy surgery, and who were histopathologically diagnosed with FCD...
December 6, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27940351/unexpected-marked-seizure-improvement-in-paediatric-epilepsy-surgery-candidates
#15
Christina E Hoei-Hansen, René Mathiasen, Peter Uldall
PURPOSE: Epilepsy surgery is performed based on the assumption that medical refractory epilepsy will continue. Rarely seizure freedom occurs before surgery is performed, while the patient is being evaluated as an epilepsy surgery candidate. The aim of this study was to describe the number of children withdrawn from an epilepsy surgery programme due to unexpected seizure improvement. METHODS: We retrospectively studied 173 children under 18 years with medical refractory epilepsy referred for epilepsy surgery between 1996 and 2010...
December 1, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27939253/hippocampal-sclerosis-and-associated-focal-cortical-dysplasia-related-epilepsy-in-neurofibromatosis-type-i
#16
REVIEW
Jordan Gales, Richard A Prayson
Neurofibromatosis type I (NF1) is a relatively common disorder associated with a range of neurologic sequelae. Refractory epilepsy occurs in 4-13% of NF1 patients. Hippocampal sclerosis and focal cortical dysplasia, both well-defined epilepsy-related entities, have been described in a subset of cases. To our knowledge, there has been only one other series describing coexistent focal cortical dysplasia and hippocampal sclerosis in the setting of NF1. We report two such patients who presented with intractable seizures requiring epilepsy surgery...
March 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27894944/surface-projected-fluid-attenuation-inversion-recovery-analysis-a-novel-tool-for-advanced-imaging-of-epilepsy
#17
Francesco Cardinale, Stefano Francione, Luciana Gennari, Alberto Citterio, Maurizio Sberna, Laura Tassi, Roberto Mai, Ivana Sartori, Lino Nobili, Massimo Cossu, Laura Castana, Giorgio Lo Russo, Nadia Colombo
OBJECTIVE: The objective of this pilot retrospective study is to describe the SUrface-PRojected FLuid-Attenuation-Inversion-Recovery (SUPR-FLAIR) analysis, a novel method mainly aimed at revealing cortical areas with subtle signal hyperintensity. METHODS: Images from 101 healthy controls and 10 patients suffering from drug-resistant partial epilepsy were retrospectively postprocessed. The brain surface was reconstructed from a 3-dimensional (3D) T1-weighted fast field echo (T1W-FFE) magnetic resonance imaging (MRI) scan...
November 25, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27891080/enhanced-burst-suppression-and-disruption-of-local-field-potential-synchrony-in-a-mouse-model-of-focal-cortical-dysplasia-exhibiting-spike-wave-seizures
#18
Anthony J Williams, Chen Zhou, Qian-Quan Sun
Focal cortical dysplasias (FCDs) are a common cause of brain seizures and are often associated with intractable epilepsy. Here we evaluated aberrant brain neurophysiology in an in vivo mouse model of FCD induced by neonatal freeze lesions (FLs) to the right cortical hemisphere (near S1). Linear multi-electrode arrays were used to record extracellular potentials from cortical and subcortical brain regions near the FL in anesthetized mice (5-13 months old) followed by 24 h cortical electroencephalogram (EEG) recordings...
2016: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/27885945/clinical-imaging-and-immunohistochemical-characteristics-of-focal-cortical-dysplasia-type-ii-extratemporal-epilepsies-in-children-analyses-of-an-institutional-case-series
#19
Friederike Knerlich-Lukoschus, Mary B Connolly, Glenda Hendson, Paul Steinbok, Christopher Dunham
OBJECTIVE Focal cortical dysplasia (FCD) Type II is divided into 2 subgroups based on the absence (IIA) or presence (IIB) of balloon cells. In particular, extratemporal FCD Type IIA and IIB is not completely understood in terms of clinical, imaging, biological, and neuropathological differences. The aim of the authors was to analyze distinctions between these 2 formal entities and address clinical, MRI, and immunohistochemical features of extratemporal epilepsies in children. METHODS Cases formerly classified as Palmini FCD Type II nontemporal epilepsies were identified through the prospectively maintained epilepsy database at the British Columbia Children's Hospital in Vancouver, Canada...
February 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27864929/temporal-lobe-epilepsy-and-focal-cortical-dysplasia-in-children-a-tip-to-find-the-abnormality
#20
Luca Bartolini, Matthew T Whitehead, Cheng-Ying Ho, Leigh N Sepeta, Chima O Oluigbo, Kathryn Havens, Emily R Freilich, John M Schreiber, William D Gaillard
OBJECTIVE: To demonstrate an association between magnetic resonance imaging (MRI) findings and pathologic characteristics in children who had surgery for medically refractory epilepsy due to focal cortical dysplasia (FCD). METHODS: We retrospectively studied 110 children who had epilepsy surgery. Twenty-seven patients with FCD were included. Thirteen had temporal lobe epilepsy (TLE) and 14 had extra-temporal lobe epilepsy (ETLE). Three patients had associated mesial temporal sclerosis...
January 2017: Epilepsia
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