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Focal cortical dysplasia

Joan Yw Liu, Cheryl Reeves, Beate Diehl, Antonietta Coppola, Aliya Al-Hajri, Chandrashekar Hoskote, Salim Al Mughairy, Mohamed Tachrount, Michael Groves, Zuzanna Michalak, Kevin Mills, Andrew W McEvoy, Anna Miserocchi, Sanjay M Sisodiya, Maria Thom
OBJECTIVE: This study reports on a novel brain pathology in young patients with Frontal Lobe Epilepsy that is distinct from Focal Cortical Dysplasia. METHODS: Surgical specimens from twenty young adults with frontal lobe epilepsy (mean age, 30 years) were investigated with histological/immunohistochemical markers for cortical laminar architecture, mammalian target of rapamycin pathway activation and inhibition, cellular autophagy, and synaptic vesicle-mediated trafficking as well as proteomics analysis...
October 20, 2016: Annals of Neurology
Theresa Scholl, Angelika Mühlebner, Gerda Ricken, Victoria Gruber, Anna Fabing, Sharon Samueli, Gudrun Gröppel, Christian Dorfer, Thomas Czech, Johannes A Hainfellner, Avanita S Prabowo, Roy J Reinten, Lisette Hoogendijk, Jasper J Anink, Eleonora Aronica, Martha Feucht
Conventional antiepileptic drugs suppress the excessive firing of neurons during seizures. In drug-resistant patients, treatment failure indicates an alternative important epileptogenic trigger. Two epilepsy-associated pathologies show myelin deficiencies in seizure-related brain regions: Focal Cortical Dysplasia IIB (FCD) and cortical tubers in Tuberous Sclerosis Complex (TSC). Studies uncovering white matter-pathology mechanisms are therefore urgently needed to gain more insight into epileptogenesis, the propensity to maintain seizures, and their associated comorbidities such as cognitive defects...
October 17, 2016: Brain Pathology
Thomas Cloppenborg, Theodor W May, Ingmar Blümcke, Philip Grewe, Lena J Hopf, Thilo Kalbhenn, Margarete Pfäfflin, Tilman Polster, Reinhard Schulz, Friedrich G Woermann, Christian G Bien
INTRODUCTION: Despite the success of epilepsy surgery, recent reports suggest a decline in surgical numbers. We tested these trends in our cohort to elucidate potential reasons. PATIENTS AND METHODS: Presurgical, surgical and postsurgical data of all patients undergoing presurgical evaluation in between 1990 and 2013 were retrospectively analysed. Patients were grouped according to the underlying pathology. RESULTS: A total of 3060 patients were presurgically studied, and resective surgery was performed in 66...
October 5, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
Alexia M Thomas, Michael D Schwartz, Michael D Saxe, Thomas S Kilduff
STUDY OBJECTIVES: Although recent innovations have enabled modification of the rat genome, it is unclear whether enhanced utility of rodents as human disease models will result. We compared EEG and behavioral phenotypes of rats and mice with homozygous deletion of Cntnap2, a gene associated with cortical dysplasia-focal epilepsy (CDFE) and autism spectrum disorders (ASD). METHODS: Male Cntnap2 knockout (KO) and wild-type (WT) rats and male Cntnap2 KO and WT mice were implanted with telemeters to record EEG, EMG, body temperature and locomotor activity...
September 26, 2016: Sleep
Tally Lerman-Sagie, Zvi Leibovitz
Abnormal fetal corticogenesis results in malformations of cortical development (MCD). Abnormal cell proliferation leads to microcephaly or megalencephaly, incomplete neuronal migration results in heterotopia and lissencephaly, neuronal overmigration manifests as cobblestone malformations, and anomalous postmigrational cortical organization is responsible for polymicrogyria and focal cortical dysplasias. MCD comprises various congenital brain disorders, caused by different genetic, infectious, or vascular etiologies and is associated with significant neurological morbidity...
September 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
S Boronat, M Vicente, E Lainez, A Sánchez-Montañez, E Vázquez, L Mangado, L Martínez-Ribot, M Del Campo
Fetal alcohol spectrum disorders (FASD) cause neurodevelopmental abnormalities. However, publications about epilepsy and electroencephalographic features are scarce. In this study, we prospectively performed electroencephalography (EEG) and brain magnetic resonance (MR) imaging in 61 patients with diagnosis of FASD. One patient had multiple febrile seizures with normal EEGs. Fourteen children showed EEG anomalies, including slow background activity and interictal epileptiform discharges, focal and/or generalized, and 3 of them had epilepsy...
September 13, 2016: European Journal of Medical Genetics
Bo Jin, Jing Wang, Jian Zhou, Shuang Wang, Yuguang Guan, Shuhua Chen
This study aimed to determine the long-term surgical outcome of pharmacoresistant epilepsy caused by focal cortical dysplasia (FCD) and to identify the important predictors of the favorable surgical outcome. The study retrospectively analyzed the data of pharmacoresistant epilepsy patients with histologically proven FCD in our epilepsy center from May 2010 to December 2014. It included 120 patients with a mean follow-up of 34.6 months. Survival analysis and multivariate regression with Cox proportional hazards model were used to evaluate the rate, stability, and predictors of seizure freedom...
September 8, 2016: Journal of Neurology
Frédéric Racicot, Sami Obaid, Alain Bouthillier, Laurent Guillon-Létourneau, Jean-François Clément, Dang Khoa Nguyen
We report the case of a 23-year-old left-handed woman with medically intractable praxis-induced reflex seizures mainly precipitated by writing. Selective resection of subtle end-of-sulcus cortical dysplasia in the right inferior parietal lobule resulted in freedom from seizures. To the best of our knowledge, this is the first case of praxis-induced reflex seizures mainly precipitated by writing in which a focal lesion was found and treated successfully by surgery.
2016: Epilepsy & Behavior Case Reports
Masaki Iwasaki, Kazutaka Jin, Nobukazu Nakasato, Teiji Tominaga
Epilepsy surgery is aimed to remove the brain tissues that are indispensable for generating patient's epileptic seizures. There are two purposes in the pre-operative evaluation: localization of the epileptogenic zone and localization of function. Surgery is planned to remove possible epileptogenic zone while preserving functional area. Since no single diagnostic modality is superior to others in identifying and localizing the epileptogenic zone, multiple non-invasive evaluations are performed to estimate the location of the epileptogenic zone after concordance between evaluations...
October 15, 2016: Neurologia Medico-chirurgica
Maura E Ryan
Investigators from the Mayo Clinic, Rochester Minnesota investigated the utility of three-dimensional (3D) double inversion recovery (DIR) sequences in magnetic resonance imaging (MRI) detection of focal cortical dysplasia (FCD) in children and young adults with epilepsy.
April 2016: Pediatric neurology briefs
Richard A Prayson
OBJECTIVES: Hyaline protoplasmic astrocytopathy is a rare condition marked by the accumulation of various proteins in the cytoplasm of protoplasmic astrocytes. METHODS: This study retrospectively reviews the clinicopathologic features of 14 patients (nine females; mean age, 9.1 years) with hyaline protoplasmic astrocytopathy. RESULTS: Patients had chronic seizures (mean duration, 101.1 months); mean age at seizure onset was 6.9 months. Three patients had Aicardi syndrome, and one patient had tuberous sclerosis...
October 2016: American Journal of Clinical Pathology
Jong Woo Lee
No abstract text is available yet for this article.
July 2016: Epilepsy Currents
Jonathan M DuBois, Olivier G Rousset, Marie-Christine Guiot, Jeffery A Hall, Andrew J Reader, Jean-Paul Soucy, Pedro Rosa-Neto, Eliane Kobayashi
Metabotropic glutamate receptor type 5 (mGluR5) abnormalities have been described in tissue resected from epilepsy patients with focal cortical dysplasia (FCD). To determine if these abnormalities could be identified in vivo, we investigated mGluR5 availability in 10 patients with focal epilepsy and an MRI diagnosis of FCD using positron-emission tomography (PET) and the radioligand [(11)C]ABP688. Partial volume corrected [(11)C]ABP688 binding potentials (BPND) were computed using the cerebellum as a reference region...
August 30, 2016: Cerebral Cortex
Tugba Hirfanoglu, Ayse Serdaroglu, Gokhan Kurt, Atilla Erdem, Irem Capraz, Erhan Bilir, Ozge Vural, Murat Ucar, Ali Yusuf Oner, Baran Onal, Ozgur Akdemir, Ozlem Atay, Ebru Arhan, Kursad Aydin
OBJECTIVE: This study aimed to investigate the efficacy of resective surgery in children with focal lesional epilepsy by evaluating the predictive value of pre- and postsurgical factors in terms of seizure freedom. METHODS: This study included 61 children aged between 2 and 18years who were admitted to the pediatric video-EEG unit for presurgical workup. Each patient was evaluated with a detailed history, video-EEG, neuroimaging, and postsurgical outcomes according to Engel classification to predict postsurgical seizure freedom...
October 2016: Epilepsy & Behavior: E&B
J van Scheppingen, D W M Broekaart, T Scholl, M R J Zuidberg, J J Anink, W G Spliet, P C van Rijen, T Czech, J A Hainfellner, M Feucht, A Mühlebner, E A van Vliet, E Aronica
BACKGROUND: The proteasome is a multisubunit enzyme complex involved in protein degradation, which is essential for many cellular processes. During inflammation, the constitutive subunits are replaced by their inducible counterparts, resulting in the formation of the immunoproteasome. METHODS: We investigated the expression pattern of constitutive (β1, β5) and immunoproteasome (β1i, β5i) subunits using immunohistochemistry in malformations of cortical development (MCD; focal cortical dysplasia (FCD) IIa and b, cortical tubers from patients with tuberous sclerosis complex (TSC), and mild MCD (mMCD))...
2016: Journal of Neuroinflammation
Tarek Shaker, Anne Bernier, Lionel Carmant
Focal cortical dysplasia is a common cause of medication resistant epilepsy. A better understanding of its presentation, pathophysiology and consequences have helped us improved its treatment and outcome. This paper reviews the most recent classification, pathophysiology and imaging findings in clinical research as well as the knowledge gained from studying genetic and lesional animal models of focal cortical dysplasia. This review of this recently gained knowledge will most likely help develop new research models and new therapeutic targets for patients with epilepsy associated with focal cortical dysplasia...
May 2016: Seminars in Pediatric Neurology
Qian-Quan Sun, Chen Zhou, Weiguo Yang, Daniel Petrus
OBJECTIVE: To examine if mice with focal cortical dysplasia (FCD) develop spontaneous epileptic seizures and, if so, determine the key electroencephalography (EEG) features. METHODS: Unilateral single freeze lesions to the S1 region (SFLS1R) were made in postnatal day 0-1 pups to induce a neocortical microgyrus in the right cortical hemisphere. Continuous 24-h recordings with intracranial EEG electrodes and behavioral tests were performed in adult SFLS1R and sham-control mice to assess neurologic status...
October 2016: Epilepsia
B Schmeiser, T Hammen, B J Steinhoff, J Zentner, A Schulze-Bonhage
OBJECT: The intention of our study was to identify predictive characteristics for long-term seizure control and running down phenomenon after surgical treatment of pharmacoresistant mesiotemporal lobe epilepsy (mTLE) with and without associated cortical dysplasia. MATERIALS AND METHODS: Our study comprises a consecutive series of 458 patients who underwent surgical treatment for intractable mTLE at the Epilepsy Center Freiburg. Data evaluated included semiology, duration and frequency of seizures, results of presurgical diagnostics including video-EEG monitoring, MRI, PET and SPECT as well as postoperative seizure outcome...
October 2016: Epilepsy Research
Lakshminarayanan Kannan, Simon Vogrin, Catherine Bailey, Wirginia Maixner, A Simon Harvey
Multiple seizure foci, seizure propagation and epileptic spasms complicate presurgical seizure localization in tuberous sclerosis. Furthermore, controversy exists about the contribution of tubers, perituberal cortex and the underlying genetic abnormality to epileptogenesis. We aimed to determine the epileptogenic substrate in tuberous sclerosis by studying spatio-temporal patterns of seizure onset and propagation on intracranial EEG recordings in which multiple depth and surface electrodes sampled multiple tubers and perituberal cortex...
August 6, 2016: Brain: a Journal of Neurology
Hye Eun Kwon, Soyong Eom, Hoon-Chul Kang, Joon Soo Lee, Se Hoon Kim, Dong Seok Kim, Heung Dong Kim
OBJECTIVE: To analyze the clinical presentation and outcomes of surgically treated focal cortical dysplasia (FCD) in children. METHODS: We reviewed 75 cases of confirmed FCD by pathology after resective surgery. We used the pathologic classification proposed by the International League Against Epilepsy and included clinical profile and seizure and neurodevelopmental outcomes in analyses. RESULTS: There were 11 cases of FCD type I, 34 of type IIa, 19 of type IIb, and 11 of type III...
August 30, 2016: Neurology
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