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Focal cortical dysplasia

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https://www.readbyqxmd.com/read/29338461/mtor-dysregulation-and-tuberous-sclerosis-related-epilepsy
#1
Paolo Curatolo, Romina Moavero, Jackelien van Scheppingen, Eleonora Aronica
The mammalian target of rapamycin (mTOR) pathway has emerged as a key player for proper neural network development, and it is involved in epileptogenesis triggered by both genetic or acquired factors. Areas covered. The robust mTOR signaling deregulation observed in a large spectrum of epileptogenic developmental pathologies, such as focal cortical dysplasias and tuberous sclerosis complex (TSC), has been linked to germline and somatic mutations in mTOR pathway regulatory genes, increasing the spectrum of "mTORopathies"...
January 17, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29336937/the-combination-of-stereo-eeg-and-radiofrequency-ablation
#2
Hélène Catenoix, Pierre Bourdillon, Marc Guénot, Jean Isnard
SEEG-guided radiofrequency thermocoagulation (SEEG-guided RFTC), a combination of Stereo-electroencephalography (SEEG) and radiofrequency thermocoagulation (RFTC), has been performed since 2001 in drug resistant epilepsy. The interest of this procedure is to aim at total or partial destruction of the epileptogenic zone, as tailored in each individual patient by the SEEG exploration. These multiple SEEG-guided RFTC lesions of epileptic foci are produced by using a radiofrequency generator connected to the electrode contacts...
January 9, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29334038/robotic-assisted-and-image-guided-mri-compatible-stereoelectroencephalography
#3
Jeffery A Hall, Hui Ming Khoo
BACKGROUND: Stereoelectroencephalography has been in regular use at the Montreal Neurological Institute since 1972. The technique has been in constant evolution to incorporate advances in materials, imaging, and robotics technology. MRI-compatible electrodes were introduced in 2007 and robotics in 2011. Here we report on the technique, safety, and advantages of our current method of stereoelectroencephalography implantation. METHODS: We retrospectively reviewed all patients who underwent stereoelectroencephalography by the senior author...
January 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29331846/functional-neuroimaging-in-rasmussen-syndrome
#4
Ichiro Kuki, Kazumi Matsuda, Yuko Kubota, Tetsuhiro Fukuyama, Yukitoshi Takahashi, Yushi Inoue, Haruo Shintaku
PURPOSE: For a diagnosis of Rasmussen syndrome (RS), clinical course together with electroencephalography (EEG) and magnetic resonance imaging (MRI) findings are considered important, but there are few reports on functional neuroimaging. This study investigated cerebral blood flow (CBF)-single photon emission computed tomography (SPECT), central benzodiazepine receptor (BZR)-SPECT, and fluorine-18 fluorodeoxy glucose-positron emission tomography (FDG-PET) in RS patients, and correlated neuroimaging results with MRI and pathological findings...
January 5, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29331082/mechanistic-target-of-rapamycin-complex-1-and-2-in-human-temporal-lobe-epilepsy
#5
Delia M Talos, Leah M Jacobs, Sarah Gourmaud, Carlos A Coto, Hongyu Sun, Kuei-Cheng Lim, Timothy H Lucas, Kathryn A Davis, Maria Martinez-Lage, Frances E Jensen
OBJECTIVE: Temporal lobe epilepsy (TLE) is a chronic epilepsy syndrome defined by seizures and progressive neurological disabilities, including cognitive impairments, anxiety and depression. Here, human TLE specimens were investigated focusing on the mechanistic target of rapamycin (mTOR) Complex 1 (mTORC1) and Complex 2 (mTORC2) activities in the brain, as both pathways may represent unique targets for treatment. METHODS: Surgically resected hippocampal and temporal lobe samples from therapy-resistant TLE patients were analyzed by Western blotting to quantify the expression of established mTORC1 and mTORC2 activity markers and upstream or downstream signaling pathways involving the two complexes...
January 13, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29325060/pathophysiological-analyses-of-leptomeningeal-heterotopia-using-gyrencephalic-mammals
#6
Naoyuki Matsumoto, Naoki Kobayashi, Natsu Uda, Miwako Hirota, Hiroshi Kawasaki
Leptomeningeal glioneuronal heterotopia (LGH) is a focal malformation of the cerebral cortex and frequently found in patients with thanatophoric dysplasia (TD). The pathophysiological mechanisms underlying LGH formation are still largely unclear because of difficulties in obtaining brain samples from human TD patients. Recently, we established a new animal model for analyzing cortical malformations of human TD by utilizing our genetic manipulation technique for gyrencephalic carnivore ferrets. Here we investigated the pathophysiological mechanisms underlying the formation of LGH using our TD ferrets...
January 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29298944/neuronal-migration-disorders
#7
Benjamin Roberts
Enhanced understanding of brain development has led to increased awareness of the links between disorders of neuronal migration and seizure disorders. A significant number of patients with intractable epilepsy have cortical malformations that originated during neuronal migration. Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. These disorders include polymicrogyria, schizencephaly, lissencephaly, heterotopia, and focal cortical dysplasia. Imaging protocols continue to evolve to provide critical assessment of anatomic and physiologic traits of these disorders to better treat and prevent seizures...
January 2018: Radiologic Technology
https://www.readbyqxmd.com/read/29281825/somatic-mutations-activating-the-mtor-pathway-in-dorsal-telencephalic-progenitors-cause-a-continuum-of-cortical-dysplasias
#8
Alissa M D'Gama, Mollie B Woodworth, Amer A Hossain, Sara Bizzotto, Nicole E Hatem, Christopher M LaCoursiere, Imad Najm, Zhong Ying, Edward Yang, A James Barkovich, David J Kwiatkowski, Harry V Vinters, Joseph R Madsen, Gary W Mathern, Ingmar Blümcke, Annapurna Poduri, Christopher A Walsh
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep sequencing of these genes in FCD/HME brain tissue identified an etiology in 27 of 66 cases (41%). Radiographically indistinguishable lesions are caused by somatic activating mutations in AKT3, MTOR, and PIK3CA and germline loss-of-function mutations in DEPDC5, NPRL2, and TSC1/2, including TSC2 mutations in isolated HME demonstrating a "two-hit" model...
December 26, 2017: Cell Reports
https://www.readbyqxmd.com/read/29279945/dysplasia-and-overgrowth-magnetic-resonance-imaging-of-pediatric-brain-abnormalities-secondary-to-alterations-in-the-mechanistic-target-of-rapamycin-pathway
#9
REVIEW
Shai Shrot, Misun Hwang, Carl E Stafstrom, Thierry A G M Huisman, Bruno P Soares
The current classification of malformations of cortical development is based on the type of disrupted embryological process (cell proliferation, migration, or cortical organization/post-migrational development) and the resulting morphological anomalous pattern of findings. An ideal classification would include knowledge of biological pathways. It has recently been demonstrated that alterations affecting the mechanistic target of rapamycin (mTOR) signaling pathway result in diverse abnormalities such as dysplastic megalencephaly, hemimegalencephaly, ganglioglioma, dysplastic cerebellar gangliocytoma, focal cortical dysplasia type IIb, and brain lesions associated with tuberous sclerosis...
December 26, 2017: Neuroradiology
https://www.readbyqxmd.com/read/29278549/new-developments-in-understanding-focal-cortical-malformations
#10
Albert J Becker, Heinz Beck
PURPOSE OF REVIEW: Focal cortical dysplasias (FCDs) represent common cortical malformations that are frequently associated with epilepsy. They have so far not been well understood in terms of their molecular pathogenesis, and with respect to mechanisms of seizure emergence. RECENT FINDINGS: Several recent studies have succeeded in making significant advances in understanding the molecular genetics, in particular FCD type II. A second major advance has been the development of novel rodent models of FCDs that replicate a somatic mutation seen in humans, lead to a focal lesion, and recapitulate many phenotypic features of human FCDs...
December 22, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29274432/a-mouse-model-of-depdc5-related-epilepsy-neuronal-loss-of-depdc5-causes-dysplastic-and-ectopic-neurons-increased-mtor-signaling-and-seizure-susceptibility
#11
Christopher J Yuskaitis, Brandon M Jones, Rachel L Wolfson, Chloe E Super, Sameer C Dhamne, Alexander Rotenberg, David M Sabatini, Mustafa Sahin, Annapurna Poduri
DEPDC5 is a newly identified epilepsy-related gene implicated in focal epilepsy, brain malformations, and Sudden Unexplained Death in Epilepsy (SUDEP). In vitro, DEPDC5 negatively regulates amino acid sensing by the mTOR complex 1 (mTORC1) pathway, but the role of DEPDC5 in neurodevelopment and epilepsy has not been described. No animal model of DEPDC5-related epilepsy has recapitulated the neurological phenotypes seen in patients, and germline knockout rodent models are embryonic lethal. Here, we establish a neuron-specific Depdc5 conditional knockout mouse by cre-recombination under the Synapsin1 promotor...
December 20, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/29273383/seeg-guided-radiofrequency-thermocoagulation
#12
REVIEW
Pierre Bourdillon, Bertrand Devaux, Anne-Sophie Job-Chapron, Jean Isnard
We propose expert recommendations on the use of SEEG-guided radiofrequency thermocoagulation (RF-TC) based on an exhaustive literature review. This technique consists in performing a RF-TC lesion using a SEEG depth electrode at the end of the recording. It is indicated when conventional surgical resection of the ictal onset zone is not possible. SEEG guided RF-TC can also be considered as a diagnostic tool since an improvement, even limited, has a high positive predictive value concerning the good outcome after surgery...
December 19, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/29258971/adult-onset-rasmussen-encephalitis-associated-with-focal-cortical-dysplasia
#13
Katharina Hohenbichler, Julie Lelotte, Renaud Lhommel, Riëm El Tahry, Pascal Vrielynck, Susana Ferrao Santos
Rasmussen encephalitis is a rare, devastating condition, typically presenting in childhood. Cases of adult-onset Rasmussen have also been described, but the clinical picture is less defined, rendering final diagnosis difficult. We present a case of adult-onset Rasmussen encephalitis with dual pathology, associated with focal cortical dysplasia and encephalitis. We interpreted the Rasmussen encephalitis to be caused by severe and continuous epileptic activity due to focal cortical dysplasia. The best therapeutic approach for such cases remains unclear...
December 20, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29246093/targeting-the-mammalian-target-of-rapamycin-for-epileptic-encephalopathies-and-malformations-of-cortical-development
#14
Anna Jeong, Michael Wong
Malformations of cortical development represent a common cause of epileptic encephalopathies and drug-resistant epilepsy in children. As current treatments are often ineffective, new therapeutic targets are needed for epileptic encephalopathies associated with cortical malformations. The mechanistic/mammalian target of rapamycin (mTOR) pathway constitutes a signaling pathway that drives cellular and molecular mechanisms of epileptogenesis in a variety of focal cortical malformations. mTOR inhibitors prevent epilepsy and associated pathogenic mechanisms of epileptogenesis in mouse models of tuberous sclerosis complex and are currently in clinical trials for drug-resistant seizures in these patients...
January 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29227798/histological-and-mri-markers-of-white-matter-damage-in-focal-epilepsy
#15
REVIEW
Francesco Deleo, Maria Thom, Luis Concha, Andrea Bernasconi, Boris C Bernhardt, Neda Bernasconi
Growing evidence highlights the importance of white matter in the pathogenesis of focal epilepsy. Ex vivo and post-mortem studies show pathological changes in epileptic patients in white matter myelination, axonal integrity, and cellular composition. Diffusion-weighted MRI and its analytical extensions, particularly diffusion tensor imaging (DTI), have been the most widely used technique to image the white matter in vivo for the last two decades, and have shown microstructural alterations in multiple tracts both in the vicinity and at distance from the epileptogenic focus...
November 23, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29219786/periinsular-anterior-quadrantotomy-technical-note
#16
Giulia Cossu, Sebastien Lebon, Margitta Seeck, Etienne Pralong, Mahmoud Messerer, Eliane Roulet-Perez, Roy Thomas Daniel
Refractory frontal lobe epilepsy has been traditionally treated through a frontal lobectomy. A disconnective technique may allow similar seizure outcomes while avoiding the complications associated with large brain resections. The aim of this study was to describe a new technique of selective disconnection of the frontal lobe that can be performed in cases of refractory epilepsy due to epileptogenic foci involving 1 frontal lobe (anterior to the motor cortex), with preservation of motor function. In addition to the description of the technique, an illustrative case is also presented...
December 8, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29197666/surgical-outcome-and-predictive-factors-of-epilepsy-surgery-in-pediatric-isolated-focal-cortical-dysplasia
#17
Sun Ah Choi, Soo Yeon Kim, Hyuna Kim, Woo Joong Kim, 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
OBJECTIVE: Focal cortical dysplasia (FCD) is a common cause of medically intractable epilepsy in children. Epilepsy surgery has been a valuable treatment option to achieve seizure freedom in these intractable epilepsy patients. We aimed to present long-term surgical outcome, in relation to pathological severity, and to assess predictive factors of epilepsy surgery in pediatric isolated FCD. METHODS: We retrospectively analyzed the data of 58 children and adolescents, with FCD International League Against Epilepsy (ILAE) task force classification types I and II, who underwent resective epilepsy surgery and were followed for at least 2 years after surgery...
November 27, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29162878/comparative-analysis-of-cytokine-chemokine-regulatory-networks-in-patients-with-hippocampal-sclerosis-hs-and-focal-cortical-dysplasia-fcd
#18
Arpna Srivastava, Aparna Banerjee Dixit, Debasmita Paul, Manjari Tripathi, Chitra Sarkar, P Sarat Chandra, Jyotirmoy Banerjee
Experimental and clinical evidence have demonstrated aberrant expression of cytokines/chemokines and their receptors in patients with hippocampal sclerosis (HS) and focal cortical dysplasia (FCD). However, there is limited information regarding the modulation of cytokine/chemokine-regulatory networks, suggesting contribution of miRNAs and downstream transcription factors/receptors in these pathologies. Hence, we studied the levels of multiple inflammatory mediators (IL1β, IL1Ra, IL6, IL10, CCL3, CCL4, TNFα and VEGF) along with transcriptional changes of nine related miRNAs and mRNA levels of downstream effectors of significantly altered cytokines/chemokines in brain tissues obtained from patients with HS (n = 26) and FCD (n = 26)...
November 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29159426/an-initial-cost-effectiveness-analysis-of-intraoperative-magnetic-resonance-imaging-imri-in-pediatric-epilepsy-surgery
#19
Matthew F Sacino, Sean S Huang, Robert F Keating, William D Gaillard, Chima O Oluigbo
PURPOSE: Previous studies have illustrated the clinical utility of the addition of intraoperative magnetic resonance imaging (iMRI) to conventional microsurgical resection. While iMRI requires initial capital cost investment, long-term reduction in costly follow-up management and reoperation costs may prove economically efficacious. The objective of this study is to investigate the cost-effectiveness of the addition of iMRI utilization versus conventional microsurgical techniques in focal cortical dysplasia (FCD) resection in pediatric patients with medically refractory epilepsy...
November 20, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29137921/intraoperative-definition-of-bottom-of-sulcus-dysplasia-using-intraoperative-ultrasound-and-single-depth-electrode-recording-a-technical-note
#20
Dorothea Miller, Patrick Carney, John S Archer, Gregory J Fitt, Graeme D Jackson, Kristian J Bulluss
Bottom of sulcus dysplasias (BOSDs) are localized focal cortical dysplasias (FCDs) centred on the bottom of a sulcus that can be highly epileptogenic, but difficult to delineate intraoperatively. We report on a patient with refractory epilepsy due to a BOSD, successfully resected with the aid of a multimodal surgical approach using neuronavigation based on MRI and PET, intraoperative ultrasound (iUS) and electrocorticography (ECoG) using depth electrodes. The lesion could be visualized on iUS showing an increase in echogenicity at the grey-white matter junction...
November 11, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
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