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Focal cortical dysplasia

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https://www.readbyqxmd.com/read/28067998/multimodal-fiber-probe-spectroscopy-allows-detecting-epileptogenic-focal-cortical-dysplasia-in-children
#1
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
#2
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
#3
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...
December 28, 2016: Oncotarget
https://www.readbyqxmd.com/read/28025990/focal-cortical-dysplasia-molecular-disturbances-and-clinicopathological-classification-review
#4
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
#5
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
#6
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
#7
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...
December 8, 2016: 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
#8
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
#9
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
#10
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...
November 25, 2016: 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
#11
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
https://www.readbyqxmd.com/read/27861502/abnormal-profiles-of-local-functional-connectivity-proximal-to-focal-cortical-dysplasias
#12
René M H Besseling, Jacobus F A Jansen, Anton J A de Louw, Mariëlle C G Vlooswijk, M Christianne Hoeberigs, Albert P Aldenkamp, Walter H Backes, Paul A M Hofman
INTRODUCTION: Focal cortical dysplasia (FCD) is a congenital malformation of cortical development that often leads to medically refractory epilepsy. Focal resection can be an effective treatment, but is challenging as the surgically relevant abnormality may exceed the MR-visible lesion. The aim of the current study is to develop methodology to characterize the profile of functional connectivity around FCDs using resting-state functional MRI and in the individual patient. The detection of aberrant connectivity may provide a means to more completely delineate the clinically relevant lesion...
2016: PloS One
https://www.readbyqxmd.com/read/27859041/increased-subcortical-oligodendroglia-like-cells-in-pharmacoresistant-focal-epilepsy-in-children-correlate-with-extensive-epileptogenic-zones
#13
Satoru Sakuma, William C Halliday, Ruka Nomura, Shiro Baba, Yosuke Sato, Kazuo Okanari, Midori Nakajima, Elysa Widjaja, Cyrus Boelman, Ayako Ochi, O Carter Snead, James T Rutka, James Drake, Steven Miller, Hiroshi Otsubo
OBJECTIVE: Cortical resections in epilepsy surgery tend to involve multiple lobes in children, compared to adults, partly due to underlying pathology. Oligodendroglia-like cells (OLCs) have been observed in surgical specimens from children with pharmacoresistant epilepsy. We hypothesize that OLCs recruit multiple-lobe epileptogenic zones in pediatric pharmacoresistant focal epilepsy. METHODS: We examined the surgical specimens from 30 children who underwent epilepsy surgery (1...
December 2016: Epilepsia
https://www.readbyqxmd.com/read/27834621/repeat-surgery-for-focal-cortical-dysplasias-in-children-indications-and-outcomes
#14
Matthew F Sacino, Cheng-Ying Ho, Matthew T Whitehead, Amy Kao, Dewi Depositario-Cabacar, John S Myseros, Suresh N Magge, Robert F Keating, William D Gaillard, Chima O Oluigbo
OBJECTIVE Focal cortical dysplasia (FCD) is a common cause of medically intractable epilepsy that often may be treated by surgery. Following resection, many patients continue to experience seizures, necessitating a decision for further surgery to achieve the desired seizure outcomes. Few studies exist on the efficacy of reoperation for intractable epilepsy due to FCD in pediatric cohorts, including the definition of prognostic factors correlated with clinical benefit from further resection. METHODS The authors retrospectively analyzed the medical records and MR images of 22 consecutive pediatric patients who underwent repeat FCD resection after unsuccessful first surgery at the Children's National Health System between March 2005 and April 2015...
November 11, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27830187/germline-and-somatic-mutations-in-the-mtor-gene-in-focal-cortical-dysplasia-and-epilepsy
#15
Rikke S Møller, Sarah Weckhuysen, Mathilde Chipaux, Elise Marsan, Valerie Taly, E Martina Bebin, Susan M Hiatt, Jeremy W Prokop, Kevin M Bowling, Davide Mei, Valerio Conti, Pierre de la Grange, Sarah Ferrand-Sorbets, Georg Dorfmüller, Virginie Lambrecq, Line H G Larsen, Eric Leguern, Renzo Guerrini, Guido Rubboli, Gregory M Cooper, Stéphanie Baulac
OBJECTIVE: To assess the prevalence of somatic MTOR mutations in focal cortical dysplasia (FCD) and of germline MTOR mutations in a broad range of epilepsies. METHODS: We collected 20 blood-brain paired samples from patients with FCD and searched for somatic variants using deep-targeted gene panel sequencing. Germline mutations in MTOR were assessed in a French research cohort of 93 probands with focal epilepsies and in a diagnostic Danish cohort of 245 patients with a broad range of epilepsies...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27824513/aberrant-expression-of-mir-323a-5p-in-patients-with-refractory-epilepsy-caused-by-focal-cortical-dysplasia
#16
Ningwei Che, Guo Zu, Tingting Zhou, Xiaofeng Wang, Yuqiang Sun, Zeshi Tan, Yaoling Liu, Dong Wang, Xiaodong Luo, Ze Zhao, Yue Zhang, Minghai Wei, Jian Yin
BACKGROUND: Epilepsy remains one of the most common clinical neurological disorders. About a third of patients with epilepsy are refractory to drug treatment, mainly as a result of focal cortical dysplasia (FCD). In this study, we analyzed the aberrant expression of microRNAs (miRNAs) in the cortex and plasma of FCD patients. METHODS: Cortical samples were collected from nine patients with refractory epilepsy caused by FCD who underwent surgery, and from eight volunteers (control group) undergoing emergency surgery for hypertensive cerebral hemorrhage...
January 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27818371/ictal-spect-is-useful-in-localizing-the-epileptogenic-zone-in-infants-with-cortical-dysplasia
#17
Martin Kudr, Pavel Krsek, Bruno Maton, Stephen Malone, Alena Jahodova, Vladimir Komarek, Prasanna Jayakar, Michael Duchowny
AIMS: To assess the localizing value of ictal SPECT in very young epilepsy surgery candidates when cerebral haemodynamic responses are known to be immature. METHODS: We retrospectively studied 13 infants with intractable focal epilepsy caused by focal cortical dysplasia (FCD). Completeness of resection of the (1) ictal SPECT hyperperfusion zone and (2) cerebral cortex with prominent ictal and interictal abnormalities on intracranial EEG (ECoG or long-term invasive monitoring) and the MRI lesion, when present, were correlated with postoperative seizure outcome...
December 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27818366/aicardi-syndrome-epilepsy-surgery-as-a-palliative-treatment-option-for-selected-patients-and-pathological-findings
#18
Irina Podkorytova, Ajay Gupta, Elaine Wyllie, Ahsan Moosa, William Bingaman, Richard Prayson, Elia M Pestana Knight
The optimal treatment for medically refractory epilepsy in Aicardi syndrome (AS) is still unclear. Palliative surgical treatment, including vagus nerve stimulation and corpus callosotomy, has therefore been used. There is limited data on the role of resective epilepsy surgery as a treatment choice in patients with AS. Here, we describe the seizures, anatomo-pathological findings, and neurodevelopmental outcome of palliative epilepsy surgery in two children with AS who had resective epilepsy surgery at the Cleveland Clinic...
December 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27811355/clinical-and-immunohistochemical-characteristics-of-type-ii-and-type-i-focal-cortical-dysplasia
#19
Kun Yao, Zejun Duan, Jian Zhou, Lin Li, Feng Zhai, Yanting Dong, Xiaoyan Wang, Zhong Ma, Yu Bian, Xueling Qi, Liang Li
Focal cortical dysplasia (FCD) II and I are major causes for drug-resistant epilepsy. In order to gain insight into the possible correlations between FCD II and FCD I, different clinical characteristics and immunohistochemical expression characteristics in FCD I and II were analyzed. The median age of onset and duration of epilepsy in FCD I and FCD II patients were 2.1 years and 5.3 years vs 2.4 years and 4.5 years. Therefore, the median age of onset and duration of epilepsy were similar in the two groups. Pathological lesions were predominantly located in frontal lobe in FCD II and temporal in FCD I...
November 1, 2016: Oncotarget
https://www.readbyqxmd.com/read/27781032/genetic-basis-of-brain-malformations
#20
REVIEW
Elena Parrini, Valerio Conti, William B Dobyns, Renzo Guerrini
Malformations of cortical development (MCD) represent a major cause of developmental disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders causing severe global neurological impairment. Abnormalities of the LIS1, DCX, ARX, RELN, VLDLR, ACTB, ACTG1, TUBG1, KIF5C, KIF2A, and CDK5 genes have been associated with these malformations...
September 2016: Molecular Syndromology
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