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Focal cortical dysplasia

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https://www.readbyqxmd.com/read/28737124/distribution-and-expression-of-brain-derived-neurotrophic-factor-nerve-growth-factor-and-neurotrophic-factor-3-in-refractory-epilepsy-associated-focal-cortical-dysplasia
#1
Feng Wang, Yuanxiang Lin, Dezhi Kang, Fuxiang Chen, Kun Lin, Xingfen Su
OBJECTIVE: To investigate the expression and distribution of brain-derived neurotrophic factor (BDNF), nerve growth factor (NGF), and neurotrophic factor-3 (NT-3) in refractory epilepsy-associated type I focal cortical dysplasia (FCD I) and FCD IIA patients, and to explore their effects on pathogenesis of FCD I and FCD IIA. MATERIALS AND METHODS: 19 subjects who received surgery at the Department of Neurosurgery, First Affiliated Hospital, Fujian Medical University, China between June 2010 and May 2012, were enrolled in this study...
July 24, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28725554/successful-surgical-management-of-new-onset-refractory-status-epilepticus-norse-presenting-with-gelastic-seizures-in-a-3%C3%A2-year-old-girl
#2
Ahmad Marashly, Sean Lew, Jennifer Koop
Gelastic seizures (GS) are typically associated with hypothalamic hamartomas and present during childhood. However it is now known that GS can be found in focal epilepsies arising from other regions in the brain, including mesial and neocortical frontal, temporal and parietal regions. GS have rarely been described as the presenting manifestation of New Onset Refractory Status Epilepticus (NORSE). In this article we describe a previously healthy 3-year-old who presented with an explosive onset of GS that were refractory to multiple anti-seizure medications...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28690583/correlating-interictal-spikes-with-sigma-and-delta-dynamics-during-non-rapid-eye-movement-sleep
#3
Frédéric Zubler, Annalisa Rubino, Giorgio Lo Russo, Kaspar Schindler, Lino Nobili
Interictal spikes (IS) are one of the major hallmarks of epilepsy. Understanding the factors promoting or suppressing IS would increase our comprehension of epilepsy and possibly open new avenues for therapy. Sleep strongly influences epileptic activity, and the modulatory effects of the different sleep stages on IS have been studied for decades. However, several aspects are still disputed, in particular the role of sleep spindles and slow waves in the activation of IS during Non-REM sleep. Here, we correlate the rate of IS with quantitative measures derived from stereo-EEG during one Non-REM cycle in 10 patients suffering from drug-resistant epilepsy due to type 2 focal cortical dysplasia...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28677066/tubulin-related-cerebellar-dysplasia-definition-of-a-distinct-pattern-of-cerebellar-malformation
#4
Romina Romaniello, Filippo Arrigoni, Elena Panzeri, Andrea Poretti, Alessia Micalizzi, Andrea Citterio, Maria Francesca Bedeschi, Angela Berardinelli, Margherita Cusmai, Stefano D'Arrigo, Alessandro Ferraris, Annette Hackenberg, Alma Kuechler, Margherita Mancardi, Sara Nuovo, Barbara Oehl-Jaschkowitz, Andrea Rossi, Sabrina Signorini, Frank Tüttelmann, Dagmar Wahl, Ute Hehr, Eugen Boltshauser, Maria Teresa Bassi, Enza Maria Valente, Renato Borgatti
OBJECTIVE: To determine the neuroimaging pattern of cerebellar dysplasia (CD) and other posterior fossa morphological anomalies associated with mutations in tubulin genes and to perform clinical and genetic correlations. METHODS: Twenty-eight patients harbouring 23 heterozygous pathogenic variants (ten novel) in tubulin genes TUBA1A (n = 10), TUBB2B (n = 8) or TUBB3 (n = 5) were studied by a brain MRI scan performed either on a 1.5 T (n = 10) or 3 T (n = 18) MR scanner with focus on the posterior fossa...
July 4, 2017: European Radiology
https://www.readbyqxmd.com/read/28675562/innate-and-adaptive-immunity-in-human-epilepsies
#5
Jan Bauer, Albert J Becker, Wassim Elyaman, Jukka Peltola, Stephan Rüegg, Maarten J Titulaer, James A Varley, Ettore Beghi
Inflammatory mechanisms have been increasingly implicated in the origin of seizures and epilepsy. These mechanisms are involved in the genesis of encephalitides in which seizures are a common complaint. Experimental and clinical evidence suggests different inflammatory responses in the brains of patients with epilepsy depending on the etiology. In general, activation of both innate and adaptive immunity plays a role in refractory forms of epilepsy. Epilepsies in which seizures develop after infiltration of cells of the adaptive immune system in the central nervous system (CNS) include a broad range of epileptic disorders with different (known or unknown) etiologies...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28673671/relationship-among-clinical-pathological-and-bio-molecular-features-in-low-grade-epilepsy-associated-neuroepithelial-tumors
#6
Gianfranco Vornetti, Gianluca Marucci, Corrado Zenesini, Dario de Biase, Roberto Michelucci, Paolo Tinuper, Giovanni Tallini, Marco Giulioni
The aim of this study was to evaluate the relationship between molecular markers and clinicopathological features in patients operated on for low-grade epilepsy-associated neuroepithelial tumors. Molecular-genetic signatures are becoming increasingly important in characterizing these lesions, which represent the second most common cause of focal epilepsy in patients undergoing epilepsy surgery. Data from 22 patients operated on for histopathologically confirmed low-grade epilepsy-associated neuroepithelial tumors were retrospectively collected...
June 30, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28673029/predictive-factors-of-surgical-outcome-in-frontal-lobe-epilepsy-explored-with-stereoelectroencephalography
#7
Francesca Bonini, Aileen McGonigal, Didier Scavarda, Romain Carron, Jean Régis, Henry Dufour, Jean-Claude Péragut, Virginie Laguitton, Nathalie Villeneuve, Patrick Chauvel, Bernard Giusiano, Agnès Trébuchon, Fabrice Bartolomei
BACKGROUND: Resective surgery established treatment for pharmacoresistant frontal lobe epilepsy (FLE), but seizure outcome and prognostic indicators are poorly characterized and vary between studies. OBJECTIVE: To study long-term seizure outcome and identify prognostic factors. METHODS: We retrospectively analyzed 42 FLE patients having undergone surgical resection, mostly preceded by invasive recordings with stereoelectroencephalography (SEEG)...
June 29, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28670168/value-of-repeat-brain-mri-in-children-with-focal-epilepsy-and-negative-findings-on-initial-mri
#8
Tae Yeon Jeon, Ji Hye Kim, Jeehun Lee, So-Young Yoo, Sook Min Hwang, Munhyang Lee
OBJECTIVE: To evaluate the value of repeat brain magnetic resonance imaging (MRI) in identifying potential epileptogenic lesions in children with initial MRI-negative focal epilepsy. MATERIALS AND METHODS: Our Institutional Review Board approved this retrospective study and waived the requirement for informed consent. During a 15-year period, 257 children (148 boys and 109 girls) with initial MRI-negative focal epilepsy were included. After re-evaluating both initial and repeat MRIs, positive results at repeat MRI were classified into potential epileptogenic lesions (malformation of cortical development and hippocampal sclerosis) and other abnormalities...
July 2017: Korean Journal of Radiology: Official Journal of the Korean Radiological Society
https://www.readbyqxmd.com/read/28633092/epilepsy-in-neurofibromatosis-type-1
#9
Anthony Pecoraro, Eric Arehart, William Gallentine, Rodney Radtke, Edward Smith, Carolyn Pizoli, Sujay Kansagra, Elie Abdelnour, Roger McLendon, Mohamad A Mikati
OBJECTIVES: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1). METHODS: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period. RESULTS: Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Of the 26, 17 (65%) had localization-related epilepsy, seven of whom (41%) were drug resistant. Six (23%) had apparently primary generalized epilepsy (0/6 drug resistant), two (8%) Lennox-Gastaut syndrome, and one (4%) West syndrome (all three were drug-resistant)...
June 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28621626/a-multimodal-concept-for-invasive-diagnostics-and-surgery-based-on-neuronavigated-voxel-based-morphometric-mri-postprocessing-data-in-previously-nonlesional-epilepsy
#10
Daniel Delev, Carlos M Quesada, Alexander Grote, Jan P Boström, Christian Elger, Hartmut Vatter, Rainer Surges
OBJECTIVE Diagnosis and surgical treatment of refractory and apparent nonlesional focal epilepsy is challenging. Morphometric MRI voxel-based and other postprocessing methods can help to localize the epileptogenic zone and thereby support the planning of further invasive electroencephalography (EEG) diagnostics, and maybe resective epilepsy surgery. METHODS The authors developed an algorithm to implement regions of interest (ROI), based on postprocessed MRI data, into a neuronavigation tool. This was followed by stereotactic ROI-guided implantation of depth electrodes and ROI-navigated resective surgery...
June 16, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28601171/a-practical-approach-to-supratentorial-brain-malformations-what-radiologists-should-know
#11
REVIEW
Edward Yang, Winnie C W Chu, Edward Y Lee
For general radiologists, congenital brain malformations pose substantial challenges in terms of recognition, description, and classification. This review describes a practical approach to imaging and classifying the most common supratentorial brain malformations. It begins with a discussion of embryology and optimal imaging technique and then summarizes distinguishing imaging features for several major categories of cerebral malformation, including holoprosencephaly, gray matter heterotopia, lissencephaly/pachygyria, focal cortical dysplasia, polymicrogyria, and cobblestone malformation...
July 2017: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/28598277/surgical-strategy-to-avoid-ischemic-complications-of-the-pyramidal-tract-in-resective-epilepsy-surgery-of-the-insula-technical-case-report
#12
Naoki Ikegaya, Akio Takahashi, Takanobu Kaido, Yuu Kaneko, Masaki Iwasaki, Nobutaka Kawahara, Taisuke Otsuki
Surgical treatment of the insula is notorious for its high probability of motor complications, particularly when resecting the superoposterior part. Ischemic damage to the pyramidal tract in the corona radiata has been regarded as the cause of these complications, resulting from occlusion of the perforating arteries to the pyramidal tract through the insular cortex. The authors describe a strategy in which a small piece of gray matter is spared at the bottom of the periinsular sulcus, where the perforating arteries pass en route to the pyramidal tract, in order to avoid these complications...
June 9, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28588433/intragenic-cntnap2-deletions-a-bridge-too-far
#13
REVIEW
Martin Poot
Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, stuttering, and attention deficit hyperactivity disorder. A variety of molecular mechanisms, such as loss of transcription factor binding sites and perturbation of penetrance and expressivity, have been proposed to account for the phenotypic variability resulting from CNTNAP2 mutations...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28565831/clinical-characteristics-and-epilepsy-outcomes-following-surgery-caused-by-focal-cortical-dysplasia-type-iia-in-110-adult-epileptic-patients
#14
Yuqiang Sun, Xiaofeng Wang, Ningwei Che, Huamin Qin, Shuping Liu, Xinling Wu, Minghai Wei, Huakun Cheng, Jian Yin
The aim of the present study was to investigate the effects of surgical intervention of focal cortical dysplasia (FCD) IIa on the outcome of epilepsy, and to evaluate the prognostic factors of seizure freedom. Patient data from epilepsy surgeries were retrospectively reviewed at the Second Affiliated Hospital of Dalian Medical University between 2007 and 2015. A total of 110 patients with a definite pathological diagnosis of FCD IIa were included. Moreover, the clinical characteristics, seizure outcome and quality of life in adults with FCD IIa were evaluated...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28557904/characteristics-of-eeg-seizure-onset-patterns-recorded-from-subdural-electrodes-over-mri-visible-frontal-focal-cortical-dysplasia-type-iib-lesions
#15
Daisuke Hirozawa, Kiyohito Terada, Kazumi Matsuda, Keiko Usui, Naotaka Usui, Takayasu Tottori, Akihiko Kondo, Yasukiyo Araki, Yoshio Omote, Yumi Kashida, Hideki Mochizuki, Yushi Inoue
PURPOSE: Focal cortical dysplasia (FCD) is intrinsically epileptogenic, and an MRI-visible lesion typically constitutes the core part of the epileptogenic zone. We aimed to identify ictal EEG patterns that represent the epileptogenic zone by using subdural electrodes placed over the MRI-visible FCD lesion. METHODS: We selected seven patients with frontal lobe epilepsy caused by pathologically proven FCD type IIb who underwent preoperative intracranial EEG evaluation with subdural electrodes followed by resection surgery with seizure-free outcome...
May 25, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28548216/pathology-of-oligodendroglia-an-overview
#16
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
#17
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...
July 2017: Brain Topography
https://www.readbyqxmd.com/read/28491496/towards-in-vivo-focal-cortical-dysplasia-phenotyping-using-quantitative-mri
#18
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
#19
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
#20
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
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