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MRI focal cortical dysplasia

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https://www.readbyqxmd.com/read/28762286/childhood-onset-epileptic-encephalopathy-associated-with-isolated-focal-cortical-dysplasia-and-a-novel-tsc1-germline-mutation
#1
Hannes Hoelz, Eva Coppenrath, Konstanze Hoertnagel, Timo Roser, Moritz Tacke, Lucia Gerstl, Ingo Borggraefe
Tuberous sclerosis complex (TSC) is an autosomal-dominant inheritable neurocutaneous disease due to mutations within the TSC1 and TSC2 genes. Many patients present with West syndrome, a severe epilepsy syndrome characterized by the triad of infantile spasms, an interictal electroencephalogram (EEG) pattern termed hypsarrhythmia (continuous slow activity with an amplitude higher than 300 µV and multiregional spikes/polyspikes/sharp waves) and developmental regression. In this study, we report on a previously healthy patient with positive family history of epilepsy with new-onset epileptic encephalopathy at the age of 9 years...
March 1, 2017: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/28745400/voxel-based-magnetic-resonance-image-postprocessing-in-epilepsy
#2
Pascal Martin, Gavin P Winston, Philippa Bartlett, Jane de Tisi, John S Duncan, Niels K Focke
OBJECTIVE: Although the general utility of voxel-based processing of structural magnetic resonance imaging (MRI) data for detecting occult lesions in focal epilepsy is established, many differences exist among studies, and it is unclear which processing method is preferable. The aim of this study was to compare the ability of commonly used methods to detect epileptogenic lesions in magnetic resonance MRI-positive and MRI-negative patients, and to estimate their diagnostic yield. METHODS: We identified 144 presurgical focal epilepsy patients, 15 of whom had a histopathologically proven and MRI-visible focal cortical dysplasia; 129 patients were MRI negative with a clinical hypothesis of seizure origin, 27 of whom had resections...
July 26, 2017: Epilepsia
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
#3
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/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/28670168/value-of-repeat-brain-mri-in-children-with-focal-epilepsy-and-negative-findings-on-initial-mri
#5
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
#6
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
#7
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/28565831/clinical-characteristics-and-epilepsy-outcomes-following-surgery-caused-by-focal-cortical-dysplasia-type-iia-in-110-adult-epileptic-patients
#8
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
#9
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/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
#10
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
#11
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
#12
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/28441637/subtle-pathological-changes-in-neocortical-temporal-lobe-epilepsy
#13
Juan G Ochoa, Diana Hentgarden, Audrey Paulzak, Melissa Ogden, Richard Pryson, Markus Lamle, Walter G Rusyniak
This was a prospective observational study to correlate the clinical symptoms, electrophysiology, imaging, and surgical pathology of patients with temporal lobe epilepsy (TLE) without hippocampal sclerosis. We selected consecutive patients with TLE and normal MRI undergoing temporal lobe resection between April and September 2015. Clinical features, imaging, and functional data were reviewed. Intracranial monitoring and language mapping were performed when it was required according to our team recommendation...
June 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#14
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
June 2017: Epilepsia
https://www.readbyqxmd.com/read/28384161/microrna-hsa-mir-134-is-a-circulating-biomarker-for-mesial-temporal-lobe-epilepsy
#15
Simoni H Avansini, Beatriz Pereira de Sousa Lima, Rodrigo Secolin, Marilza L Santos, Ana Carolina Coan, André S Vieira, Fábio R Torres, Benilton S Carvalho, Marina K M Alvim, Márcia E Morita, Clarissa L Yasuda, Luciana R Pimentel-Silva, Danyella B Dogini, Fabio Rogerio, Fernando Cendes, Iscia Lopes-Cendes
Epilepsy is misdiagnosed in up to 25% of patients, leading to serious and long-lasting consequences. Recently, circulating microRNAs have emerged as potential biomarkers in a number of clinical scenarios. The purpose of this study was to identify and to validate circulating microRNAs that could be used as biomarkers in the diagnosis of epilepsy. Quantitative real-time PCR was used to measure plasma levels of three candidate microRNAs in two phases of study: an initial discovery phase with 14 patients with mesial temporal lobe epilepsy (MTLE), 13 with focal cortical dysplasia (FCD) and 16 controls; and a validation cohort constituted of an independent cohort of 65 patients with MTLE and 83 controls...
2017: PloS One
https://www.readbyqxmd.com/read/28379049/a-case-of-epilepsy-in-multiple-sclerosis-three-dimensional-double-inversion-recovery-sequences-revealed-cortical-dysplasia
#16
Domenico S Zimatore, Mirko Trentadue, Marco Castellaro, Monica Ferlisi, Enrico Piovan, Massimiliano Calabrese
In epileptic patients with multiple sclerosis (MS), cortical lesions have been suggested to cause seizures. In brain magnetic resonance imaging (MRI), double inversion recovery (DIR) sequences are generally used to evaluate MS cortical disease burden. We present the case of a woman, diagnosed with MS, suffering from drug-resistant partial seizures initially attributed to MS. The patient underwent many MRI exams, but only by means of high-resolution three-dimensional DIR sequences was a focal cortical dysplasia discovered...
August 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28288357/epilepsy-prevalence-and-severity-predictors-in-mri-identified-focal-cortical-dysplasia
#17
Lauren M Maynard, James L Leach, Paul S Horn, Christine G Spaeth, Francesco T Mangano, Katherine D Holland, Lili Miles, Robert Faist, Hansel M Greiner
OBJECTIVES: To determine the prevalence of epilepsy and drug-resistant epilepsy in pediatric patients with focal cortical dysplasia (FCD) identified by magnetic resonance imaging (MRI). To determine clinical and imaging differences between those with drug-resistant epilepsy, drug-responsive epilepsy, and no epilepsy among children with MRI-identified FCD. METHODS: A keyword search of a hospital radiology database identified 97 study participants for inclusion in this retrospective study...
March 6, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28265244/contributions-of-eeg-fmri-to-assessing-the-epileptogenicity-of-focal-cortical-dysplasia
#18
Francesca Pittau, Lorenzo Ferri, Firas Fahoum, François Dubeau, Jean Gotman
Purpose: To examine the ability of the BOLD response to EEG spikes to assess the epileptogenicity of the lesion in patients with focal cortical dysplasia (FCD). Method: Patients with focal epilepsy and FCD who underwent 3T EEG-fMRI from 2006 to 2010 were included. Diagnosis of FCD was based on neuroradiology (MRI+), or histopathology in MRI-negative cases (MRI-). Patients underwent 120 min EEG-fMRI recording session. Spikes similar to those recorded outside the scanner were marked in the filtered EEG. The lesion (in MRI+) or the removed cortex (in MRI-) was marked on the anatomical T1 sequence, blindly to the BOLD response, after reviewing the FLAIR images...
2017: Frontiers in Computational Neuroscience
https://www.readbyqxmd.com/read/28254201/unusual-association-of-scn2a-epileptic-encephalopathy-with-severe-cortical-dysplasia-detected-by-prenatal-mri
#19
Silvia Bernardo, Enrica Marchionni, Sabrina Prudente, Paola De Liso, Alberto Spalice, Antonella Giancotti, Lucia Manganaro, Antonio Pizzuti
We present an atypical association of SCN2A epileptic encephalopathy with severe cortical dysplasia. SCN2A mutations are associated with epileptic syndromes from benign to extremely severe in absence of such macroscopic brain findings. Prenatal MRI (Magnetic Resonance Imaging) in a 32 weeks fetus, with US (Ultrasonography) diagnosis of isolated ventriculomegaly showed CNS (Central Nervous System) dysplasia characterized by lack of differentiation between cortical and subcortical layers, pachygyria and corpus callosum dysgenesis...
May 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28130467/multimodal-mri-profiling-of-focal-cortical-dysplasia-type-ii
#20
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...
February 21, 2017: Neurology
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