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Focal cortical dysplasia

Bo Jin, Wenhan Hu, Linmei Ye, Balu Krishnan, Thandar Aung, Stephen E Jones, Imad M Najm, Andreas V Alexopoulos, Kai Zhang, Junming Zhu, Jianguo Zhang, Meiping Ding, Zhong Chen, Shuang Wang, Zhong Irene Wang
Objective: To investigate the neuroimaging and clinical features associated with sleep-related epilepsy (SRE) in patients with focal cortical dysplasia (FCD) type II. Methods: Patients with histopathologically proven FCD type II were included from three epilepsy centers. SRE was defined according to the video EEG findings and seizure history. Cortical surface reconstruction and volume calculation were performed using FreeSurfer. The lesions were manually delineated on T1 volumetric MRI using the ITK-SNAP software...
2018: Frontiers in Neurology
Geetha Anand, Grace Vasallo, Maria Spanou, Saumya Thomas, Michael Pike, Didu Sanduni Kariyawasam, Sanjay Mehta, Allyson Parry, Juliette Durie-Gair, James Nicholson, Karine Lascelles, Vanessa Everett, Frances Mary Gibbon, Nicola Jarvis, John Elston, Dafydd Gareth Evans, Dorothy Halliday
OBJECTIVE: Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation. DESIGN: Patients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service...
March 13, 2018: Archives of Disease in Childhood
C Cuello-Oderiz, N von Ellenrieder, R Sankhe, A Olivier, J Hall, F Dubeau, J Gotman
OBJECTIVES: There are different neurophysiological markers of the Epileptogenic Zone (EZ), but their sensitivity and specificity for the EZ is not known in Focal Cortical Dysplasia (FCD) patients. METHODS: We studied patients with FCD who underwent stereoelectroencephalography (SEEG) and surgery. We marked in the SEEG: (a) typical and atypical interictal epileptiform patterns, (b) ictal onset patterns, and (c) rates of ripples (80-250 Hz) and fast ripples (FRs) (>250 Hz)...
February 22, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Giovanni Tringali, Beatrice Bono, Ivano Dones, Roberto Cordella, Giuseppe Didato, Flavio Villani, Francesco Prada
BACKGROUND: Type II focal cortical dysplasia is the most common malformation of cortical development associated with drug resistant epilepsy and susceptible to surgical resection. Although advanced imaging modalities are nowadays capable to detect the majority of such cortical disorders, it is still a challenge for the surgeon to visualize them intraoperatively. The lack of direct boundaries' identification between normal brain and subtle dysplastic tissue may explain poor results in terms of seizure-free patients compared to other forms of epilepsy...
March 3, 2018: World Neurosurgery
Dan Xu, Andrew P Robinson, Toshiyuki Ishii, D'Anne S Duncan, Tord D Alden, Gwendolyn E Goings, Igal Ifergan, Joseph R Podojil, Pablo Penaloza-MacMaster, Jennifer A Kearney, Geoffrey T Swanson, Stephen D Miller, Sookyong Koh
The pathophysiology of drug-resistant pediatric epilepsy is unknown. Flow cytometric analysis of inflammatory leukocytes in resected brain tissues from 29 pediatric patients with genetic (focal cortical dysplasia) or acquired (encephalomalacia) epilepsy demonstrated significant brain infiltration of blood-borne inflammatory myeloid cells and memory CD4+ and CD8+ T cells. Significantly, proinflammatory (IL-17- and GM-CSF-producing) γδ T cells were concentrated in epileptogenic lesions, and their numbers positively correlated with disease severity...
February 27, 2018: Journal of Experimental Medicine
Daniel San-Juan, Carlos Ignacio Sarmiento, Katia Márquez González, José Manuel Orenday Barraza
Transcranial direct current stimulation (tDCS) is a reemerged noninvasive cerebral therapy used to treat patients with epilepsy, including focal cortical dysplasia, with controversial results. We present a case of a 28-year-old female with left frontal cortical dysplasia refractory to antiepileptic drugs, characterized by 10-15 daily right tonic hemi-body seizures. The patient received a total of seven sessions of cathodal tDCS (2 mA, 30 min). The first three sessions were applied over three consecutive days, and the remaining four sessions of tDCS were given each at 2-week intervals...
2018: Frontiers in Neurology
Simoni H Avansini, Fábio R Torres, André S Vieira, Danyella B Dogini, Fabio Rogerio, Ana C Coan, Marcia E Morita, Marilisa M Guerreiro, Clarissa L Yasuda, Rodrigo Secolin, Benilton S Carvalho, Murilo G Borges, Vanessa S Almeida, Patrícia A O R Araújo, Luciano Queiroz, Fernando Cendes, Iscia Lopes-Cendes
OBJECTIVE: Focal cortical dysplasias (FCDs) are an important cause of drug-resistant epilepsy. In this work we aimed to investigate whether abnormal gene regulation, mediated by microRNA, could be involved in FCD type II. METHODS: We used total RNA from the brain tissue of 16 patients with FCD type II and 28 controls. MicroRNA expression was initially assessed by microarray. Quantitative PCR (qPCR), in situ hybridization, luciferase reporter assays and deep sequencing for genes in the mTOR pathway were performed to validate and further explore our initial study...
February 20, 2018: Annals of Neurology
Sarah A Kelley, Shenandoah Robinson, Nathan E Crone, Bruno P Soares
INTRODUCTION: Bottom-of-sulcus focal cortical dysplasias are an under recognized, surgically treatable cause of focal epilepsy. Resection can dramatically reduce the seizure burden for children with refractory epilepsy, or eliminate seizures altogether. MATERIAL AND METHODS: We report the case and present the results of multimodality evaluation of a 15-year-old young man who presented with long-standing partial epilepsy affecting his right leg, which over the years became refractory to therapy...
February 14, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Wendy Klement, Rita Garbelli, Emma Zub, Laura Rossini, Laura Tassi, Benoit Girard, Marine Blaquiere, Federica Bertaso, Julie Perroy, Frederic de Bock, Nicola Marchi
BACKGROUND: Cerebrovascular dysfunction and inflammation occur in experimental and clinical epilepsy. Here we asked whether pericytes, a pivotal cellular component of brain capillaries, undergo pathological modifications during experimental epileptogenesis and in human epilepsy. We evaluated whether pro-inflammatory cytokines, present in the brain during seizures, contribute to pericyte morphological modifications. METHODS: In vivo, unilateral intra-hippocampal kainic acid (KA) injections were performed in NG2DsRed/C57BL6 mice to induce status epilepticus (SE), epileptogenesis, and spontaneous recurrent seizures (SRS)...
February 9, 2018: Neurobiology of Disease
Mark A MacLean, Alexander S Easton, Gwynedd E Pickett
No abstract text is available yet for this article.
February 12, 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
Marie-Coralie Cornet, Tristan T Sands, Maria Roberta Cilio
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant. This defect may disrupt cortical development (e.g., lissencephaly, focal cortical dysplasia), lead to metabolic changes (e.g., pyridoxine-dependent epilepsy, sulfite oxidase deficiency) or lead to cortical dysfunction without metabolic or macroscopic structural changes (e.g., channelopathies, STXBP1). Historically, studies on treatment response and long-term consequences of neonatal seizures have lumped all etiologies together...
January 31, 2018: Seminars in Fetal & Neonatal Medicine
Marco Giulioni, Gianfranco Vornetti, Gianluca Marucci
No abstract text is available yet for this article.
February 9, 2018: Journal of Neurosurgery
Evangelos Kogias, Dirk-Matthias Altenmüller, Jan-Helge Klingler, Barbara Schmeiser, Horst Urbach, Soroush Doostkam
BACKGROUND: Information about the histopathology in 3 Tesla MRI negative extratemporal epilepsies is relatively limited. Most common histopathological findings in earlier (mixed 1.5 or 3 Tesla) MRI-negative series are focal cortical dysplasia (FCD), gliosis or normal findings. These series mostly use the older Palmini criteria for classification and grading. We focus on histopathology of only 3 Tesla MRI-negative extratemporal epilepsies according to the current ILAE criteria and investigate potential correlation to seizure outcome 1 year postoperatively...
February 5, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Lily C Wong-Kisiel, Diego F Tovar Quiroga, Daniel L Kenney-Jung, Robert J Witte, Alexandra Santana-Almansa, Gregory A Worrell, Jeffrey Britton, Benjamin H Brinkmann
OBJECTIVE: Focal cortical dysplasia (FCD) is a common pathology in focal drug resistant epilepsy (DRE). Voxel based morphometric MRI analysis has been proposed as an adjunct to visual detection of FCD, which remains challenging given the subtle radiographic appearance of FCD. This study evaluates the diagnostic value of morphometric analysis program (MAP) in focal DRE with pathology-confirmed FCD. METHODS: Automated morphometric analysis program analysis generated z-score maps derived from T1 images, referenced to healthy adult or pediatric controls for each of 39 cases with pathology-confirmed FCD...
January 26, 2018: Epilepsy Research
Raheel Ahmed, Luc Rubinger, Cristina Go, James M Drake, James T Rutka, O Carter Snead, Elysa Widjaja
PURPOSE: In patients with medically refractory epilepsy and normal magnetic resonance imaging (MRI), high-resolution dedicated MRI may identify cryptic lesions. The aim of this study was to assess improvement in lesion detection and its impact on clinical management, using additional high-resolution dedicated 3T MRI in children with medically refractory epilepsy who had normal 3T epilepsy protocol MRI. MATERIALS AND METHODS: Children who had resective epilepsy surgery and suspected focal cortical dysplasia (FCD) or normal 3T epilepsy protocol MRI were included...
February 2, 2018: Epilepsy Research
Zhongbin Zhang, Qingzhu Liu, Ming Liu, Hui Wang, Ying Dong, Taoyun Ji, Xiaoyan Liu, Yuwu Jiang, Lixin Cai, Ye Wu
BACKGROUND: We attempted to determine whether the inflammatory pathway HMGB1-TLR4 and the downstream pro-inflammatory cytokines is upregulated in focal cortical dysplasia (FCD) type II and whether there is a correlation between the TLR4 upregulation and disease duration or frequency of epileptic seizures. METHODS: FCD type II and peri-FCD paired tissues resected from eight children with refractory epilepsy were collected. Through real-time qPCR, Western blot, and co-immunoprecipitation, we examined the differences between FCD lesions and peri-FCD tissues with respect to mRNA expression, protein expression, and protein interaction in HMGB1-TLR4 pathway biomarker and downstream pro-inflammatory factors in whole brain tissue...
January 30, 2018: Journal of Neuroinflammation
Imad Najm, Harvey B Sarnat, Ingmar Blümcke
The Diagnostic Methods commission of the International League against Epilepsy (ILAE) released a first international consensus classification of Focal Cortical Dysplasia (FCD) in 2011. Since that time, this FCD classification has been widely used in clinical diagnosis and research (more than 740 papers cited in Pubmed between 1/1/2012 and 7/1/2017). Herein, we review the new data that will inform and revise the FCD classification. Many recent papers described molecular-genetic characteristics in FCD Type II including multiple mutations in the mTOR pathway...
January 23, 2018: Neuropathology and Applied Neurobiology
Elise Marsan, Stéphanie Baulac
Over the last decade, there has been increasing evidence that hyperactivation of the mechanistic target of rapamycin (mTOR) pathway is a hallmark of focal cortical dysplasia (FCD), as well as other cortical malformations such as hemimegalencephaly (HME) or in tuberous sclerosis complex (TSC). The mTOR pathway governs protein and lipid synthesis, cell growth and proliferation as well as metabolism and autophagy. The molecular genetic aetiology of mTOR hyperactivation has only been recently clarified. This article will review the current and still evolving genetic advances in the elucidation of the molecular basis of FCD...
January 23, 2018: Neuropathology and Applied Neurobiology
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 27, 2018: Expert Review of Neurotherapeutics
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
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