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Focal cortical dysplasia

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https://www.readbyqxmd.com/read/29793134/voxel-based-automated-detection-of-focal-cortical-dysplasia-lesions-using-diffusion-tensor-imaging-and-t2-weighted-mri-data
#1
Yanming Wang, Yawen Zhou, Huijuan Wang, Jin Cui, Benedictor Alexander Nguchu, Xufei Zhang, Bensheng Qiu, Xiaoxiao Wang, Mingwang Zhu
The aim of this study was to automatically detect focal cortical dysplasia (FCD) lesions in patients with extratemporal lobe epilepsy by relying on diffusion tensor imaging (DTI) and T2-weighted magnetic resonance imaging (MRI) data. We implemented an automated classifier using voxel-based multimodal features to identify gray and white matter abnormalities of FCD in patient cohorts. In addition to the commonly used T2-weighted image intensity feature, DTI-based features were also utilized. A Gaussian processes for machine learning (GPML) classifier was tested on 12 patients with FCD (8 with histologically confirmed FCD) scanned at 1...
May 21, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29782369/neuroimaging-in-epilepsy
#2
Meneka Kaur Sidhu, John S Duncan, Josemir W Sander
PURPOSE OF REVIEW: Epilepsy neuroimaging is important for detecting the seizure onset zone, predicting and preventing deficits from surgery and illuminating mechanisms of epileptogenesis. An aspiration is to integrate imaging and genetic biomarkers to enable personalized epilepsy treatments. RECENT FINDINGS: The ability to detect lesions, particularly focal cortical dysplasia and hippocampal sclerosis, is increased using ultra high-field imaging and postprocessing techniques such as automated volumetry, T2 relaxometry, voxel-based morphometry and surface-based techniques...
May 17, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29778488/the-2016-bernard-sachs-lecture-timing-in-morphogenesis-and-genetic-gradients-during-normal-development-and-in-malformations-of-the-nervous-system
#3
REVIEW
Harvey B Sarnat
Nervous system development is quadradimensional. Both normal ontogenesis and developmental malformations are explained in the context of the fourth dimension, timing. Timing of the onset of either the genetic expression of a mutation or an epigenetic event that may be teratogenic is primordial in determining morphogenesis and the forms of malformations with their functional consequences. Multiple genotypes may cause similar phenotypes or a single genotype with different degrees of retained normal genetic expression may result in variable phenotypes...
March 30, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29750358/a-population-based-cost-effectiveness-study-of-early-genetic-testing-in-severe-epilepsies-of-infancy
#4
Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford, Ingrid E Scheffer, A Simon Harvey
OBJECTIVE: The severe epilepsies of infancy (SEI) are a devastating group of disorders that pose a major care and economic burden on society; early diagnosis is critical for optimal management. This study sought to determine the incidence and etiologies of SEI, and model the yield and cost-effectiveness of early genetic testing. METHODS: A population-based study was undertaken of the incidence, etiologies, and cost-effectiveness of a whole exome sequencing-based gene panel (targeted WES) in infants with SEI born during 2011-2013, identified through electroencephalography (EEG) and neonatal databases...
May 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29738718/bilateral-thalamocortical-abnormalities-in-focal-cortical-dysplasia
#5
Arthur Rezayev, Henry A Feldman, Jacob Levman, Emi Takahashi
BACKGROUND AND PURPOSE: Focal cortical dysplasia (FCD), a congenital malformation of the neocortex and one of the most common causes of medication resistant epilepsy in pediatric populations, can be studied noninvasively by diffusion tensor imaging (DTI). The present study aimed to quantify changes in the thalamus and thalamocortical pathways with respect to fractional anisotropy (FA), apparent diffusion coefficient (ADC), volume, and other common measures. MATERIALS & METHODS: The study quantified data collected from pediatric patients with a prior diagnosis of FCD; 75 patients (35 females, 10...
May 5, 2018: Brain Research
https://www.readbyqxmd.com/read/29708509/depdc5-takes-a-second-hit-in-familial-focal-epilepsy
#6
Matthew P Anderson
Loss-of-function mutations in a single allele of the gene encoding DEP domain-containing 5 protein (DEPDC5) are commonly linked to familial focal epilepsy with variable foci; however, a subset of patients presents with focal cortical dysplasia that is proposed to result from a second-hit somatic mutation. In this issue of the JCI, Ribierre and colleagues provide several lines of evidence to support second-hit DEPDC5 mutations in this disorder. Moreover, the authors use in vivo, in utero electroporation combined with CRISPR-Cas9 technology to generate a murine model of the disease that recapitulates human manifestations, including cortical dysplasia-like changes, focal seizures, and sudden unexpected death...
April 30, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29708508/second-hit-mosaic-mutation-in-mtorc1-repressor-depdc5-causes-focal-cortical-dysplasia-associated-epilepsy
#7
Théo Ribierre, Charlotte Deleuze, Alexandre Bacq, Sara Baldassari, Elise Marsan, Mathilde Chipaux, Giuseppe Muraca, Delphine Roussel, Vincent Navarro, Eric Leguern, Richard Miles, Stéphanie Baulac
DEP domain-containing 5 protein (DEPDC5) is a repressor of the recently recognized amino acid-sensing branch of the mTORC1 pathway. So far, its function in the brain remains largely unknown. Germline loss-of-function mutations in DEPDC5 have emerged as a major cause of familial refractory focal epilepsies, with case reports of sudden unexpected death in epilepsy (SUDEP). Remarkably, a fraction of patients also develop focal cortical dysplasia (FCD), a neurodevelopmental cortical malformation. We therefore hypothesized that a somatic second-hit mutation arising during brain development may support the focal nature of the dysplasia...
April 30, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29704039/correction-to-18-f-fdg-pet-in-drug-resistant-epilepsy-due-to-focal-cortical-dysplasia-type-2-additional-value-of-electroclinical-data-and-coregistration-with-mri
#8
Serge Desarnaud, Charles Mellerio, Franck Semah, Agathe Laurent, Elisabeth Landre, Bertrand Devaux, Catherine Chiron, Vincent Lebon, Francine Chassoux
The original version of this article has added numbers in the text which are unnecessary. Correct line should be: "We also performed PET/MRI based surgical resections in an increasing number of MRI negative/ doubtful cases with favourable outcome."
April 28, 2018: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29692973/visual-hallucinations-a-novel-complication-after-hemispherectomy
#9
Jonas Vanags, Monisha Sachdev, Gerald Grant, Mohamad A Mikati
Two patients at our center experienced florid visual hallucinations following hemispherectomy. The first patient had drug-resistant left hemispheric focal seizures at 20 months of age from a previous stroke. Following functional hemispherectomy at age 3, he experienced frightening hallucinations 1 month post-operatively lasting 3.5 months. Our second patient underwent subtotal hemispherectomy at age 6 for drug-resistant focal seizures from right hemispheric cortical dysplasia. Eighteen months later he developed scary visual hallucinations during which he would shout and throw things...
2018: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/29685607/magnetoencephalographic-spike-analysis-in-patients-with-focal-cortical-dysplasia-what-defines-a-dipole-cluster
#10
Naoaki Tanaka, Christos Papadelis, Eleonora Tamilia, Michel AlHilani, Joseph R Madsen, Phillip L Pearl, Steven M Stufflebeam
BACKGROUND: The purpose of this study is to clarify the source distribution patterns of magnetoencephalographic spikes correlated with postsurgical seizure-free outcome in pediatric patients with focal cortical dysplasia. PATIENTS AND METHODS: Thirty-two patients with pathologically confirmed focal cortical dysplasia were divided into seizure-free and seizure-persistent groups according to their surgical outcomes based on Engel classification. In each patient, presurgical magnetoencephalography was reviewed...
March 15, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29679388/somatic-slc35a2-variants-in-the-brain-are-associated-with-intractable-neocortical-epilepsy
#11
Melodie R Winawer, Nicole G Griffin, Jorge Samanamud, Evan H Baugh, Dinesh Rathakrishnan, Senthilmurugan Ramalingam, David Zagzag, Catherine A Schevon, Patricia Dugan, Manu Hegde, Sameer A Sheth, Guy M McKhann, Werner K Doyle, Gerald A Grant, Brenda E Porter, Mohamad A Mikati, Carrie R Muh, Colin D Malone, Ann Marie R Bergin, Jurriaan M Peters, Danielle K McBrian, Alison M Pack, Cigdem I Akman, Christopher M LaCoursiere, Katherine M Keever, Joseph R Madsen, Edward Yang, Hart G W Lidov, Catherine Shain, Andrew S Allen, Peter Canoll, Peter B Crino, Annapurna H Poduri, Erin L Heinzen
OBJECTIVE Somatic variants are a recognized cause of epilepsy-associated focal malformations of cortical development (MCD). We hypothesized that somatic variants may underlie a wider range of focal epilepsy, including non-lesional focal epilepsy (NLFE). Through genetic analysis of brain tissue, we evaluated the role of somatic variation in focal epilepsy with and without MCD. METHODS We identified somatic variants through high-depth exome and ultra-high-depth candidate gene sequencing of DNA from epilepsy surgery specimens and leukocytes from 18 individuals with NLFE and 38 with focal MCD...
April 20, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29677585/age-at-epilepsy-onset-in-patients-with-focal-cortical-dysplasias-gangliogliomas-and-dysembryoplastic-neuroepithelial-tumours
#12
Attila Rácz, Andreas-Markus Müller, Johannes Schwerdt, Albert Becker, Hartmut Vatter, Christian E Elger
PURPOSE: The age at epilepsy onset in patients with inborn or very early acquired brain lesions depends on the epileptogenic potential of the lesion and the patients' individual "susceptibility" to epileptic seizures. To gain insight into these determinants, we analysed the case history of patients with focal cortical dysplasias (FCDs) and neuroglial tumours. METHODS: In a systematic, retrospective analysis comprised of 233 patients who underwent surgery (116 with FCDs and 117 with neuroglial tumours), we evaluated the age at epilepsy onset according to histopathologic subgroups, lesion location and family history...
April 4, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29672310/significance-of-fdg-pet-hypermetabolism-in-children-with-intractable-focal-epilepsy
#13
Solon Schur, Victoria Allen, Andrew White, David Mirsky, Nicholas Stence, Brent O'Neill, Michael Handler, Roy Dudley, Pramote Laoprasert
BACKGROUND: Interictal 18F-fluorodeoxyglucose-positron emission topography (FDG-PET) hypometabolism is routinely used in the presurgical workup of children with medically intractable epilepsy (MIE). FDG-PET hypermetabolism, however, is rarely seen, and the significance of this finding in the epilepsy workup is not well established. METHODS: We performed a retrospective study of patients who underwent FDG-PET during the presurgical workup of MIE over a 4-year period, between 1 January 2010 and 31 December 2013, at the Children's Hospital Colorado, CO, USA...
April 19, 2018: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29663692/profiles-of-gene-expression-in-the-hippocampal-formation-of-rats-with-experimentally-induced-brain-dysplasia
#14
Michal Kielbinski, Zuzanna Setkowicz, Kinga Gzielo, Krzysztof Janeczko
Malformations of cortical development (MCD) are a common cause of intractable seizures in humans. Among these, focal cortical dysplasia (FCD) poses an outstanding challenge. There are several subtypes of FCD that show significant variation in pathology and clinical presentation. All types exhibit disturbed cortical cytoarchitecture and increased propensity for seizures. The etiology is likely heterogenous, with mutations, specifically in genes related to mammalian target of rapamycin (mTOR), identified in only a subset of cases...
April 16, 2018: Developmental Neurobiology
https://www.readbyqxmd.com/read/29649770/advanced-dynamic-statistical-parametric-mapping-with-meg-in-localizing-epileptogenicity-of-the-bottom-of-sulcus-dysplasia
#15
Midori Nakajima, Simeon Wong, Elysa Widjaja, Shiro Baba, Tohru Okanishi, Lynne Takada, Yosuke Sato, Hiroki Iwata, Maya Sogabe, Hikaru Morooka, Robyn Whitney, Yuki Ueda, Tomoshiro Ito, Kazuyori Yagyu, Ayako Ochi, O Carter Snead, James T Rutka, James M Drake, Sam Doesburg, Fumiya Takeuchi, Hideaki Shiraishi, Hiroshi Otsubo
OBJECTIVE: To investigate whether advanced dynamic statistical parametric mapping (AdSPM) using magnetoencephalography (MEG) can better localize focal cortical dysplasia at bottom of sulcus (FCDB). METHODS: We analyzed 15 children with diagnosis of FCDB in surgical specimen and 3 T MRI by using MEG. Using AdSPM, we analyzed a ±50 ms epoch relative to each single moving dipole (SMD) and applied summation technique to estimate the source activity. The most active area in AdSPM was defined as the location of AdSPM spike source...
March 30, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29620007/ictal-spitting-in-non-dominant-temporal-lobe-epilepsy-an-anatomo-electrophysiological-correlation
#16
Marcos Quevedo-Diaz, Adrià Tauste Campo, Manel Vila-Vidal, Alessandro Principe, Miguel Ley, Rodrigo Rocamora
We report a patient presenting drug-resistant, non-dominant temporal lobe epilepsy with ictal spitting and prosopometamorphopsia, both extremely rare semiologies. Second-phase pre-surgical monitoring was performed using SEEG due to lesion-negative imaging and the rare semiology. The seizure onset zone was delimited to the right anterior hippocampus and the temporobasal cortex, with the propagation zone within the entorhinal cortex. Interestingly, direct electrical stimulation to the entorhinal cortex, which was reproduced in a number of trials, evoked spitting without leading to seizures or post-discharges...
April 5, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29618099/surgical-treatment-of-extratemporal-epilepsy-results-and-prognostic-factors
#17
Daniel Delev, Bernhard Oehl, Bernhard J Steinhoff, Julia Nakagawa, Christian Scheiwe, Andreas Schulze-Bonhage, Josef Zentner
BACKGROUND: Surgery is a widely accepted option for the treatment of pharmacoresistant epilepsies of extratemporal origin. OBJECTIVE: To analyze clinical and epileptological results and to provide prognostic factors influencing seizure outcome. METHODS: This retrospective single-center study comprises a consecutive series of 383 patients, most of whom had an identifiable lesion on MRI, who underwent resective surgery for extratemporal epilepsy...
March 30, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29605698/left-frontal-meningioangiomatosis-associated-with-type-iiic-focal-cortical-dysplasia-causing-refractory-epilepsy-and-literature-review
#18
Alexandre Roux, Charles Mellerio, Emmanuelle Lechapt-Zalcman, Megan Still, Michel Zerah, Marie Bourgeois, Johan Pallud
BACKGROUND: We report the surgical management of a lesional drug-resistant epilepsy caused by a meningioangiomatosis associated with a type IIIc focal cortical dysplasia located in the left supplementary motor area in a young male patient. CASE DESCRIPTION: A first anatomical-based partial surgical resection was performed at 11 years old under general anaesthesia without intraoperative mapping, which allowed for postoperative seizure control (Engel IA) for six years...
March 29, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29594410/-18-f-fdg-pet-in-drug-resistant-epilepsy-due-to-focal-cortical-dysplasia-type-2-additional-value-of-electroclinical-data-and-coregistration-with-mri
#19
Serge Desarnaud, Charles Mellerio, Franck Semah, Agathe Laurent, Elisabeth Landre, Bertrand Devaux, Catherine Chiron, Vincent Lebon, Francine Chassoux
PURPOSE: To assess the localizing value of18 F-FDG PET in patients operated on for drug-resistant epilepsy due to focal cortical dysplasia type 2 (FCD2 ). METHODS: We analysed18 F-FDG PET scans from 103 consecutive patients (52 males, 7-65 years old) with histologically proven FCD2 . PET and MRI data were first reviewed by visual analysis blinded to clinical information and FCD2 location. The additional value of electroclinical data and PET/MRI coregistration was assessed by comparison with pathological results and surgical outcomes...
March 29, 2018: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29588994/-saved-by-the-bell-near-sudep-during-intracranial-eeg-monitoring
#20
Duaa M Ba-Armah, Elizabeth J Donner, Ayako Ochi, Cristina Go, Bláthnaid McCoy, Carter Snead, James Drake, Kevin C Jones
SUDEP is the sudden unexpected death of a person with epilepsy, when no structural or toxicological cause of death can be found. The majority of witnessed cases are reported to be preceded by a convulsive seizure and postictal hypoventilation. Here, we report an 8-year-old girl with drug-resistant focal seizures secondary to a focal cortical dysplasia type IIb. While undergoing invasive intracranial monitoring with subdural and depth electrodes, she had a clinical apnea event recorded on video, followed by bradycardia, which required resuscitation...
March 2018: Epilepsia open
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