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53. Transcriptome analyses of the cortex and white matter of focal cortical dysplasia type II: Insights into pathophysiology and tissue characterization

Author

Assis-Mendonça, Guilherme Rossi, primary, Athié, Maria Carolina Pedro, additional, Tamanini, João Vitor Gerdulli, additional, Souza, Arethusa de, additional, Zanetti, Gabriel Gerardini, additional, Araújo, Patrícia Aline Oliveira Ribeiro de Aguiar, additional, Ghizoni, Enrico, additional, Tedeschi, Helder, additional, Alvim, Marina Koutsodontis Machado, additional, Almeida, Vanessa Simão de, additional, de Souza, Welliton, additional, Coras, Roland, additional, Yasuda, Clarissa Lin, additional, Blümcke, Ingmar, additional, Vieira, André Schwambach, additional, Cendes, Fernando, additional, Lopes-Cendes, Iscia, additional, and Rogerio, Fabio, additional

Published
2023
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54. D-galactose supplementation for the treatment of mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): A pilot trial of precision medicine after epilepsy surgery

Author

German Research Foundation, Aledo-Serrano, Ángel, Valls-Carbó, Adrián, Fenger, Christina D., Groeppel, Gudrun, Hartlieb, Till, Pascual, Irene, Herraez, Erika, Cabal, Borja, García-Morales, Irene, Toledano, Rafael, Budke, Marcelo, Beltran-Corbellini, Álvaro, Baldassari, Sara, Coras, Roland, Kobow, Katja, Herrera, David M., Barrio, Antonio del, Dahl, Hans Atli, Pino, Isabel del, Baulac, Stéphanie, Gil-Nagel, Antonio, German Research Foundation, Aledo-Serrano, Ángel, Valls-Carbó, Adrián, Fenger, Christina D., Groeppel, Gudrun, Hartlieb, Till, Pascual, Irene, Herraez, Erika, Cabal, Borja, García-Morales, Irene, Toledano, Rafael, Budke, Marcelo, Beltran-Corbellini, Álvaro, Baldassari, Sara, Coras, Roland, Kobow, Katja, Herrera, David M., Barrio, Antonio del, Dahl, Hans Atli, Pino, Isabel del, Baulac, Stéphanie, and Gil-Nagel, Antonio

Abstract

MOGHE is defined as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy. Approximately half of the patients with histopathologically confirmed MOGHE carry a brain somatic variant in the SLC35A2 gene encoding a UDP-galactose transporter. Previous research showed that D-galactose supplementation results in clinical improvement in patients with a congenital disorder of glycosylation due to germline variants in SLC35A2. We aimed to evaluate the effects of D-galactose supplementation in patients with histopathologically confirmed MOGHE, with uncontrolled seizures or cognitive impairment and epileptiform activity at the EEG after epilepsy surgery (NCT04833322). Patients were orally supplemented with D-galactose for 6 months in doses up to 1.5 g/kg/day and monitored for seizure frequency including 24-h video-EEG recording, cognition and behavioral scores, i.e., WISC, BRIEF-2, SNAP-IV, and SCQ, and quality of life measures, before and 6 months after treatment. Global response was defined by > 50% improvement of seizure frequency and/or cognition and behavior (clinical global impression of “much improved” or better). Twelve patients (aged 5–28 years) were included from three different centers. Neurosurgical tissue samples were available in all patients and revealed a brain somatic variant in SLC35A2 in six patients (non-present in the blood). After 6 months of supplementation, D-galactose was well tolerated with just two patients presenting abdominal discomfort, solved after dose spacing or reduction. There was a 50% reduction or higher of seizure frequency in 3/6 patients, with an improvement at EEG in 2/5 patients. One patient became seizure-free. An improvement of cognitive/behavioral features encompassing impulsivity (mean SNAP-IV − 3.19 [− 0.84; − 5.6]), social communication (mean SCQ − 2.08 [− 0.63; − 4.90]), and executive function (BRIEF-2 inhibit − 5.2 [− 1.23; − 9.2]) was observed. Global responder rate was 9/12 (6/6 in SLC35A2-po

Published
2023

56. D-galactose supplementation for the treatment of mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): a trial of precision medicine after epilepsy surgery

Author

Aledo-Serrano, Angel, primary, Valls-Carbó, Adrián, additional, Fenger, Christina D., additional, Groeppel, Gudrun, additional, Hartlieb, Till, additional, Pascual, Irene, additional, Herraez, Erika, additional, Cabal, Borja, additional, García-Morales, Irene, additional, Toledano, Rafael, additional, Budke, Marcelo, additional, Beltran-Corbellini, Álvaro, additional, Baldassari, Sara, additional, Coras, Roland, additional, Kobow, Katja, additional, Herrera, David M., additional, Barrio, Antonio del, additional, Dahl, Hans Atli, additional, Pino, Isabel del, additional, Baulac, Stéphanie, additional, Blumcke, Ingmar, additional, Møller, Rikke S., additional, and Gil-Nagel, Antonio, additional

Published
2023
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57. Transdural Skull Base Infiltration by Glioblastoma: Case Report and Review of the Literature

Author

Thrull, Michael, primary, Atasi, Khaled, additional, Boese, Lennart-Maximilian, additional, Cakar, Mahmut, additional, Heller, Ullrich, additional, Jansen, Nils, additional, Menzel, Leoni-Christine, additional, Omaimen, Hassan, additional, Theis, Katharina, additional, Karacic, Damir, additional, Dimov, Diyan, additional, Coras, Roland, additional, and Klingebiel, Randolf, additional

Published
2023
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61. Alterations inPTPN11and other RAS-/MAP-Kinase pathway genes define ganglioglioma with adverse clinical outcome and atypic histopathological features

Author

Hoffmann, Lucas, primary, Coras, Roland, additional, Kobow, Katja, additional, López-Rivera, Javier A., additional, Lal, Dennis, additional, Leu, Costin, additional, Najm, Imad, additional, Nürnberg, Peter, additional, Herms, Jochen, additional, Harter, Patrick N., additional, Bien, Christian G., additional, Kalbhenn, Thilo, additional, Müller, Markus, additional, Pieper, Tom, additional, Hartlieb, Till, additional, Kudernatsch, Manfred, additional, Hamer, Hajo, additional, Brandner, Sebastian, additional, Rössler, Karl, additional, Blümcke, Ingmar, additional, and Jabari, Samir, additional

Published
2022
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63. The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

Author

López-Rivera, Javier A, primary, Leu, Costin, additional, Macnee, Marie, additional, Khoury, Jean, additional, Hoffmann, Lucas, additional, Coras, Roland, additional, Kobow, Katja, additional, Bhattarai, Nisha, additional, Pérez-Palma, Eduardo, additional, Hamer, Hajo, additional, Brandner, Sebastian, additional, Rössler, Karl, additional, Bien, Christian G, additional, Kalbhenn, Thilo, additional, Pieper, Tom, additional, Hartlieb, Till, additional, Butler, Elizabeth, additional, Genovese, Giulio, additional, Becker, Kerstin, additional, Altmüller, Janine, additional, Niestroj, Lisa-Marie, additional, Ferguson, Lisa, additional, Busch, Robyn M, additional, Nürnberg, Peter, additional, Najm, Imad, additional, Blümcke, Ingmar, additional, and Lal, Dennis, additional

Published
2022
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64. Anaplastic ganglioglioma—A diagnosis comprising several distinct tumour types

Author

Reinhardt, Annekathrin, primary, Pfister, Kristin, additional, Schrimpf, Daniel, additional, Stichel, Damian, additional, Sahm, Felix, additional, Reuss, David E., additional, Capper, David, additional, Wefers, Annika K., additional, Ebrahimi, Azadeh, additional, Sill, Martin, additional, Felsberg, Joerg, additional, Reifenberger, Guido, additional, Becker, Albert, additional, Prinz, Marco, additional, Staszewski, Ori, additional, Hartmann, Christian, additional, Schittenhelm, Jens, additional, Gramatzki, Dorothee, additional, Weller, Michael, additional, Olar, Adriana, additional, Rushing, Elisabeth Jane, additional, Bergmann, Markus, additional, Farrell, Michael A., additional, Blümcke, Ingmar, additional, Coras, Roland, additional, Beckervordersandforth, Jan, additional, Kim, Se Hoon, additional, Rogerio, Fabio, additional, Dimova, Petia S., additional, Niehusmann, Pitt, additional, Unterberg, Andreas, additional, Platten, Michael, additional, Pfister, Stefan M., additional, Wick, Wolfgang, additional, Herold‐Mende, Christel, additional, and von Deimling, Andreas, additional

Published
2022
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67. Hemispherotomy in children: A retrospective analysis of 152 surgeries at a single center and predictors for long‐term seizure outcome.

Author

Kalbhenn, Thilo, Cloppenborg, Thomas, Woermann, Friedrich G., Hagemann, Anne, Polster, Tilman, Coras, Roland, Blümcke, Ingmar, Bien, Christian G., and Simon, Matthias

Subjects
TEMPORAL lobectomy, SEIZURES (Medicine), MAGNETIC resonance imaging, EPILEPSY surgery, RETROSPECTIVE studies, BASAL ganglia
Abstract

Objective: Completeness as a predictor of seizure freedom is broadly accepted in epilepsy surgery. We focused on the requirements for a complete hemispherotomy and hypothesized that the disconnection of the insula contributes to a favorable postoperative seizure outcome. We analyzed surgical and nonsurgical predictors influencing long‐term seizure outcome before and after a modification of our hemispherotomy technique. Methods: We retrospectively studied surgical procedures, electroclinical parameters, magnetic resonance imaging (MRI) results, and follow‐up data in all children who had undergone hemispherotomy between 2001 and 2018 at our institution. We used logistic regression models to analyze the influence of different factors on seizure outcome. Results: A total of 152 patients were eligible for seizure outcome analysis only. Of these, 140 cases had complete follow‐up data for ≥24 months and provide the basis for the following results. The median age at surgery was 4.3 years (range =.3–17.9 years). Complete disconnection (including the insular tissue) was achieved in 63.6% (89/140). At 2‐year follow‐up, seizure freedom (Engel class IA) was observed in 34.8% (8/23) with incomplete insular disconnection, whereas this was achieved in 88.8% (79/89) with complete surgical disconnection (p <.001, odds ratio [OR] = 10.41). In the latter group (n = 89), a potentially epileptogenic contralateral MRI lesion was the strongest predictor for postoperative seizure recurrence (OR = 22.20). Significance: Complete surgical disconnection is the most important predictor of seizure freedom following hemispherotomy and requires disconnection of the insular tissue at the basal ganglia level. Even if the hemispherotomy is performed surgically completely, a potentially epileptogenic contralateral lesion on preoperative MRI significantly reduces the chances of postoperative seizure freedom. [ABSTRACT FROM AUTHOR]

Published
2023
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68. Transcriptome analyses of the cortex and white matter of focal cortical dysplasia type II: insights into disease mechanisms and tissue characterization

Author

Assis-Mendonça, Guilherme Rossi, primary, Pedro Athié, Maria Carolina, additional, Gerdulli Tamanini, João Vitor, additional, de Souza, Arethusa, additional, Zanetti, Gabriel Gerardini, additional, de Aguiar Araújo, Patrícia Aline Oliveira Ribeiro, additional, Ghizoni, Enrico, additional, Tedeschi, Helder, additional, Machado Alvim, Marina Koutsodontis, additional, de Almeida, Vanessa Simão, additional, de Souza, Welliton, additional, Coras, Roland, additional, Yasuda, Clarissa Lin, additional, Blümcke, Ingmar, additional, Vieira, André Schwambach, additional, Cendes, Fernando, additional, Lopes-Cendes, Iscia, additional, and Rogerio, Fabio, additional

Published
2022
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69. The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission

Author

Najm, Imad, primary, Lal, Dennis, additional, Alonso Vanegas, Mario, additional, Cendes, Fernando, additional, Lopes‐Cendes, Iscia, additional, Palmini, Andre, additional, Paglioli, Eliseu, additional, Sarnat, Harvey B., additional, Walsh, Christopher A., additional, Wiebe, Samuel, additional, Aronica, Eleonora, additional, Baulac, Stéphanie, additional, Coras, Roland, additional, Kobow, Katja, additional, Cross, J. Helen, additional, Garbelli, Rita, additional, Holthausen, Hans, additional, Rössler, Karl, additional, Thom, Maria, additional, El‐Osta, Assam, additional, Lee, Jeong Ho, additional, Miyata, Hajime, additional, Guerrini, Renzo, additional, Piao, Yue‐Shan, additional, Zhou, Dong, additional, and Blümcke, Ingmar, additional

Published
2022
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70. Low Proliferation and Differentiation Capacities of Adult Hippocampal Stem Cells Correlate with Memory Dysfunction in Humans

Author

Coras, Roland, Siebzehnrubl, Florian A., and Pauli, Elisabeth

Abstract

The hippocampal dentate gyrus maintains its capacity to generate new neurons throughout life. In animal models, hippocampal neurogenesis is increased by cognitive tasks, and experimental ablation of neurogenesis disrupts specific modalities of learning and memory. In humans, the impact of neurogenesis on cognition remains unclear. Here, we assessed the neurogenic potential in the human hippocampal dentate gyrus by isolating adult human neural stem cells from 23 surgical "en bloc" hippocampus resections. After proliferation of the progenitor cell pool "in vitro" we identified two distinct patterns. Adult human neural stem cells with a high proliferation capacity were obtained in 11 patients. Most of the cells in the high proliferation capacity cultures were capable of neuronal differentiation (53 plus or minus 13% of "in vitro" cell population). A low proliferation capacity was observed in 12 specimens, and only few cells differentiated into neurons (4 plus or minus 2%). This was reflected by reduced numbers of proliferating cells "in vivo" as well as granule cells immunoreactive for doublecortin, brain-derived neurotrophic factor and cyclin-dependent kinase 5 in the low proliferation capacity group. High and low proliferation capacity groups differed dramatically in declarative memory tasks. Patients with high proliferation capacity stem cells had a normal memory performance prior to epilepsy surgery, while patients with low proliferation capacity stem cells showed severe learning and memory impairment. Histopathological examination revealed a highly significant correlation between granule cell loss in the dentate gyrus and the same patient's regenerative capacity "in vitro" (r = 0.813; P less than 0.001; linear regression: R[superscript 2][subscript adjusted] = 0.635), as well as the same patient's ability to store and recall new memories (r = 0.966; P = 0.001; linear regression: R[superscript 2][subscript adjusted] = 0.9). Our results suggest that encoding new memories is related to the regenerative capacity of the hippocampus in the human brain.

Published
2010
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71. Rolle der Tumorresektion in der Behandlung multizentrischer/multifokaler Glioblastome

Author

Dimov, Diyan, Simon, Matthias, Grote, Alexander, Berger, Björn, Coras, Roland, and Brainman, Daniel

Subjects
ddc: 610, Medicine and health, nervous system diseases
Abstract

Objective: The role of cytoreductive surgery in patients with multicentric/multifocal glioblastoma is controversial. For the present study we have investigated the role of resective surgery for multicentric/multifocal glioblastoma in a contemporary patient cohort. Methods: Imaging data [for full text, please go to the a.m. URL]

Published
2022

72. N471D WASH complex subunit strumpellin knock-in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue

Author

Clemen, Christoph S., Schmidt, Andreas, Winter, Lilli, Canneva, Fabio, Wittig, Ilka, Becker, Lore, Coras, Roland, Berwanger, Carolin, Hofmann, Andreas, Eggers, Britta, Marcus, Katrin, Gailus-Durner, Valerie, Fuchs, Helmut, de Angelis, Martin Hrabe, Kruger, Marcus, von Horsten, Stephan, Eichinger, Ludwig, Schroder, Rolf, Clemen, Christoph S., Schmidt, Andreas, Winter, Lilli, Canneva, Fabio, Wittig, Ilka, Becker, Lore, Coras, Roland, Berwanger, Carolin, Hofmann, Andreas, Eggers, Britta, Marcus, Katrin, Gailus-Durner, Valerie, Fuchs, Helmut, de Angelis, Martin Hrabe, Kruger, Marcus, von Horsten, Stephan, Eichinger, Ludwig, and Schroder, Rolf

Abstract

Aims We investigated N471D WASH complex subunit strumpellin (Washc5) knock-in and Washc5 knock-out mice as models for hereditary spastic paraplegia type 8 (SPG8). Methods We generated heterozygous and homozygous N471D Washc5 knock-in mice and subjected them to a comprehensive clinical, morphological and laboratory parameter screen, and gait analyses. Brain tissue was used for proteomic analysis. Furthermore, we generated heterozygous Washc5 knock-out mice. WASH complex subunit strumpellin expression was determined by qPCR and immunoblotting. Results Homozygous N471D Washc5 knock-in mice showed mild dilated cardiomyopathy, decreased acoustic startle reactivity, thinner eye lenses, increased alkaline phosphatase and potassium levels and increased white blood cell counts. Gait analyses revealed multiple aberrations indicative of locomotor instability. Similarly, the clinical chemistry, haematology and gait parameters of heterozygous mice also deviated from the values expected for healthy animals, albeit to a lesser extent. Proteomic analysis of brain tissue depicted consistent upregulation of BPTF and downregulation of KLHL11 in heterozygous and homozygous knock-in mice. WASHC5-related protein interaction partners and complexes showed no change in abundancies. Heterozygous Washc5 knock-out mice showing normal WASHC5 levels could not be bred to homozygosity. Conclusions While biallelic ablation of Washc5 was prenatally lethal, expression of N471D mutated WASHC5 led to several mild clinical and laboratory parameter abnormalities, but not to a typical SPG8 phenotype. The consistent upregulation of BPTF and downregulation of KLHL11 suggest mechanistic links between the expression of N471D mutated WASHC5 and the roles of both proteins in neurodegeneration and protein quality control, respectively.

Published
2022

73. Complicated Clinical Course in Incipient Gigantism Due to Treatment-resistant Aryl Hydrocarbon Receptor–Interacting Protein–mutated Pediatric Somatotropinoma

Author

van Santen, Selveta Sanne, Daly, Adrian F., Buchfelder, Michael, Coras, Roland, Zhao, Yining, Beckers, Albert, van der Lely, Aart Jan, Hofland, Leo J., Balvers, Rutger K., van Koetsveld, P., van den Heuvel-Eibrink, Marry Marrigje, Neggers, Sebastian Johannes Cornelis Martinus Maria, van Santen, Selveta Sanne, Daly, Adrian F., Buchfelder, Michael, Coras, Roland, Zhao, Yining, Beckers, Albert, van der Lely, Aart Jan, Hofland, Leo J., Balvers, Rutger K., van Koetsveld, P., van den Heuvel-Eibrink, Marry Marrigje, and Neggers, Sebastian Johannes Cornelis Martinus Maria

Abstract

Background: Our objective was to describe the clinical course and treatment challenges in a very young patient with a pituitary adenoma due to a novel aryl hydrocarbon receptor–interacting protein (AIP) gene mutation, highlighting the limitations of somatostatin receptor immunohistochemistry to predict clinical responses to somatostatin analogs in acromegaly. Case Report: We report the case of a 7-year-old boy presenting with headache, visual field defects, and accelerated growth following failure to thrive. The laboratory results showed high insulin-like growth factor I (IGF-I) (standardised deviation scores ( +3.49) and prolactin levels (0.5 nmol/L), and magnetic resonance imaging identified a pituitary macroadenoma. Tumoral/hormonal control could not be achieved despite 3 neurosurgical procedures, each time with apparent total resection or with lanreotide or pasireotide. IGF-I levels decreased with the GH receptor antagonist pegvisomant. The loss of somatostatin receptor 5 was observed between the second and third tumor resection. In vitro, no effect on tumoral GH release by pasireotide (with/without cabergoline) was observed. Genetic analysis revealed a novel germline AIP mutation: p.Tyr202∗ (pathogenic; class 4). Discussion: In vitro response of tumor tissue to somatostatin may better predict tumoral in vivo responses of somatostatin analogs than somatostatin receptor immunohistochemistry. Conclusion: We identified a novel pathologic AIP mutation that was associated with incipient acrogigantism in an extremely young patient who had a complicated course of disease. Growth acceleration can be masked due to failure to thrive. Tumoral growth hormone release in vivo may be predicted with in vitro exposure to somatostatin receptor analogs, as it cannot be assumed that all AIP-mutated somatotropinomas respond well to pasireotide.

Published
2022

74. Increased expression of complement components in tuberous sclerosis complex and focal cortical dysplasia type 2B brain lesions

Author

Neurologen, Brain, Neurochirurgen, Pathologie, Pathologie Pathologen staf, Cancer, Gruber, Victoria-Elisabeth, Luinenburg, Mark J, Colleselli, Katrin, Endmayr, Verena, Anink, Jasper J, Zimmer, Till S, Jansen, Floor, Gosselaar, Peter, Coras, Roland, Scholl, Theresa, Blumcke, Ingmar, Pimentel, José, Hainfellner, Johannes A, Höftberger, Romana, Rössler, Karl, Feucht, Martha, van Scheppingen, Jackelien, Aronica, Eleonora, Mühlebner, Angelika, Neurologen, Brain, Neurochirurgen, Pathologie, Pathologie Pathologen staf, Cancer, Gruber, Victoria-Elisabeth, Luinenburg, Mark J, Colleselli, Katrin, Endmayr, Verena, Anink, Jasper J, Zimmer, Till S, Jansen, Floor, Gosselaar, Peter, Coras, Roland, Scholl, Theresa, Blumcke, Ingmar, Pimentel, José, Hainfellner, Johannes A, Höftberger, Romana, Rössler, Karl, Feucht, Martha, van Scheppingen, Jackelien, Aronica, Eleonora, and Mühlebner, Angelika

Published
2022

75. Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex

Author

Neurologen, Brain, Pathologie Pathologen staf, Cancer, Pathologie, Bongaarts, Anika, Mijnsbergen, Caroline, Anink, Jasper J, Jansen, Floor E, Spliet, Wim G M, den Dunnen, Wilfred F A, Coras, Roland, Blümcke, Ingmar, Paulus, Werner, Gruber, Victoria E, Scholl, Theresa, Hainfellner, Johannes A, Feucht, Martha, Kotulska, Katarzyna, Jozwiak, Sergiusz, Grajkowska, Wieslawa, Buccoliero, Anna Maria, Caporalini, Chiara, Giordano, Flavio, Genitori, Lorenzo, Söylemezoğlu, Figen, Pimentel, José, Jones, David T W, Scicluna, Brendon P, Schouten-van Meeteren, Antoinette Y N, Mühlebner, Angelika, Mills, James D, Aronica, Eleonora, Neurologen, Brain, Pathologie Pathologen staf, Cancer, Pathologie, Bongaarts, Anika, Mijnsbergen, Caroline, Anink, Jasper J, Jansen, Floor E, Spliet, Wim G M, den Dunnen, Wilfred F A, Coras, Roland, Blümcke, Ingmar, Paulus, Werner, Gruber, Victoria E, Scholl, Theresa, Hainfellner, Johannes A, Feucht, Martha, Kotulska, Katarzyna, Jozwiak, Sergiusz, Grajkowska, Wieslawa, Buccoliero, Anna Maria, Caporalini, Chiara, Giordano, Flavio, Genitori, Lorenzo, Söylemezoğlu, Figen, Pimentel, José, Jones, David T W, Scicluna, Brendon P, Schouten-van Meeteren, Antoinette Y N, Mühlebner, Angelika, Mills, James D, and Aronica, Eleonora

Published
2022

76. Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

Author

Blumcke, Ingmar, Spreafico, Roberto, Haaker, Gerrit, Coras, Roland, Kobow, Katja, Bien, Christian G., Pfäfflin, Margarete, Elger, Christian, Widman, Guido, Schramm, Johannes, Becker, Albert, Braun, Kees P., Leijten, Frans, Baayen, Johannes C., Aronica, Eleonora, Chassoux, Francine, Hamer, Hajo, Stefan, Hermann, Rössler, Karl, Thom, Maria, Walker, Matthew C., Sisodiya, Sanjay M., Duncan, John S., McEvoy, Andrew W., Pieper, Tom, Holthausen, Hans, Kudernatsch, Manfred, Meencke, Joachim H., Kahane, Philippe, Schulze-Bonhage, Andreas, Zentner, Josef, Heiland, Dieter H., Urbach, Horst, Steinhoff, Bernhard J., Bast, Thomas, Tassi, Laura, Lo Russo, Giorgio, Özkara, Cigdem, Oz, Buge, Krsek, Pavel, Vogelgesang, Silke, Runge, Uwe, Lerche, Holger, Weber, Yvonne, Honavar, Mrinalini, Pimentel, José, Arzimanoglou, Alexis, Ulate-Campos, Adriana, Noachtar, Soheyl, Hartl, Elisabeth, Schijns, Olaf, Guerrini, Renzo, Barba, Carmen, Jacques, Thomas S., Cross, Helen J., Feucht, Martha, Mühlebner, Angelika, Grunwald, Thomas, Trinka, Eugen, Winkler, Peter A., Gil-Nagel, Antonio, Delgado, Rafael Toledano, Mayer, Thomas, Lutz, Martin, Zountsas, Basilios, Garganis, Kyriakos, Rosenow, Felix, Hermsen, Anke, von Oertzen, Tim J., Diepgen, Thomas L., and Avanzini, Giuliano

Published
2017
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78. Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Frontal Lobe Epilepsy: A New Clinico‐Pathological Entity

Author

Schurr, Johannes, Coras, Roland, Rössler, Karl, Pieper, Tom, Kudernatsch, Manfred, Holthausen, Hans, Winkler, Peter, Woermann, Friedrich, Bien, Christian G., Polster, Tilman, Schulz, Reinhard, Kalbhenn, Thilo, Urbach, Horst, Becker, Albert, Grunwald, Thomas, Huppertz, Hans‐Juergen, Gil‐Nagel, Antonio, Toledano, Rafael, Feucht, Martha, Mühlebner, Angelika, Czech, Thomas, and Blümcke, Ingmar

Published
2017
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80. genomic landscape across 474 surgically accessible epileptogenic human brain lesions.

Author

López-Rivera, Javier A, Leu, Costin, Macnee, Marie, Khoury, Jean, Hoffmann, Lucas, Coras, Roland, Kobow, Katja, Bhattarai, Nisha, Pérez-Palma, Eduardo, Hamer, Hajo, Brandner, Sebastian, Rössler, Karl, Bien, Christian G, Kalbhenn, Thilo, Pieper, Tom, Hartlieb, Till, Butler, Elizabeth, Genovese, Giulio, Becker, Kerstin, and Altmüller, Janine

Subjects
EPILEPSY, FOCAL cortical dysplasia, BRAIN damage, HIPPOCAMPAL sclerosis, CHROMOSOME duplication, PARTIAL epilepsy
Abstract

Understanding the exact molecular mechanisms involved in the aetiology of epileptogenic pathologies with or without tumour activity is essential for improving treatment of drug-resistant focal epilepsy. Here, we characterize the landscape of somatic genetic variants in resected brain specimens from 474 individuals with drug-resistant focal epilepsy using deep whole-exome sequencing (>350×) and whole-genome genotyping. Across the exome, we observe a greater number of somatic single-nucleotide variants in low-grade epilepsy-associated tumours (7.92 ± 5.65 single-nucleotide variants) than in brain tissue from malformations of cortical development (6.11 ± 4 single-nucleotide variants) or hippocampal sclerosis (5.1 ± 3.04 single-nucleotide variants). Tumour tissues also had the largest number of likely pathogenic variant carrying cells. low-grade epilepsy-associated tumours had the highest proportion of samples with one or more somatic copy-number variants (24.7%), followed by malformations of cortical development (5.4%) and hippocampal sclerosis (4.1%). Recurring somatic whole chromosome duplications affecting Chromosome 7 (16.8%), chromosome 5 (10.9%), and chromosome 20 (9.9%) were observed among low-grade epilepsy-associated tumours. For germline variant-associated malformations of cortical development genes such as TSC2 , DEPDC5 and PTEN , germline single-nucleotide variants were frequently identified within large loss of heterozygosity regions, supporting the recently proposed 'second hit' disease mechanism in these genes. We detect somatic variants in 12 established lesional epilepsy genes and demonstrate exome-wide statistical support for three of these in the aetiology of low-grade epilepsy-associated tumours (e.g. BRAF) and malformations of cortical development (e.g. SLC35A2 and MTOR). We also identify novel significant associations for PTPN11 with low-grade epilepsy-associated tumours and NRAS Q61 mutated protein with a complex malformation of cortical development characterized by polymicrogyria and nodular heterotopia. The variants identified in NRAS are known from cancer studies to lead to hyperactivation of NRAS, which can be targeted pharmacologically. We identify large recurrent 1q21–q44 duplication including AKT3 in association with focal cortical dysplasia type 2a with hyaline astrocytic inclusions, another rare and possibly under-recognized brain lesion. The clinical-genetic analyses showed that the numbers of somatic single-nucleotide variant across the exome and the fraction of affected cells were positively correlated with the age at seizure onset and surgery in individuals with low-grade epilepsy-associated tumours. In summary, our comprehensive genetic screen sheds light on the genome-scale landscape of genetic variants in epileptic brain lesions, informs the design of gene panels for clinical diagnostic screening and guides future directions for clinical implementation of epilepsy surgery genetics. [ABSTRACT FROM AUTHOR]

Published
2023
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83. First report from the German COVID-19 autopsy registry

Author

von Stillfried, Saskia, primary, Bülow, Roman David, additional, Röhrig, Rainer, additional, Boor, Peter, additional, Böcker, Jana, additional, Schmidt, Jens, additional, Tholen, Pauline, additional, Majeed, Raphael, additional, Wienströer, Jan, additional, Weis, Joachim, additional, Bremer, Juliane, additional, Knüchel, Ruth, additional, Breitbach, Anna, additional, Cacchi, Claudio, additional, Freeborn, Benita, additional, Wucherpfennig, Sophie, additional, Spring, Oliver, additional, Braun, Georg, additional, Römmele, Christoph, additional, Märkl, Bruno, additional, Claus, Rainer, additional, Dhillon, Christine, additional, Schaller, Tina, additional, Sipos, Eva, additional, Hirschbühl, Klaus, additional, Wittmann, Michael, additional, Kling, Elisabeth, additional, Kröncke, Thomas, additional, Heppner, Frank L., additional, Meinhardt, Jenny, additional, Radbruch, Helena, additional, Streit, Simon, additional, Horst, David, additional, Elezkurtaj, Sefer, additional, Quaas, Alexander, additional, Göbel, Heike, additional, Hansen, Torsten, additional, Titze, Ulf, additional, Lorenzen, Johann, additional, Reuter, Thomas, additional, Woloszyn, Jaroslaw, additional, Baretton, Gustavo, additional, Hilsenbeck, Julia, additional, Meinhardt, Matthias, additional, Pablik, Jessica, additional, Sommer, Linna, additional, Holotiuk, Olaf, additional, Meinel, Meike, additional, Mahlke, Nina, additional, Esposito, Irene, additional, Crudele, Graziano, additional, Seidl, Maximilian, additional, Amann, Kerstin U., additional, Coras, Roland, additional, Hartmann, Arndt, additional, Eichhorn, Philip, additional, Haller, Florian, additional, Lange, Fabienne, additional, Schmid, Kurt Werner, additional, Ingenwerth, Marc, additional, Rawitzer, Josefine, additional, Theegarten, Dirk, additional, Birngruber, Christoph G., additional, Wild, Peter, additional, Gradhand, Elise, additional, Smith, Kevin, additional, Werner, Martin, additional, Schilling, Oliver, additional, Acker, Till, additional, Gattenlöhner, Stefan, additional, Stadelmann, Christine, additional, Metz, Imke, additional, Franz, Jonas, additional, Stork, Lidia, additional, Thomas, Carolina, additional, Zechel, Sabrina, additional, Ströbel, Philipp, additional, Wickenhauser, Claudia, additional, Fathke, Christine, additional, Harder, Anja, additional, Ondruschka, Benjamin, additional, Dietz, Eric, additional, Edler, Carolin, additional, Fitzek, Antonia, additional, Fröb, Daniela, additional, Heinemann, Axel, additional, Heinrich, Fabian, additional, Klein, Anke, additional, Kniep, Inga, additional, Lohner, Larissa, additional, Möbius, Dustin, additional, Püschel, Klaus, additional, Schädler, Julia, additional, Schröder, Ann-Sophie, additional, Sperhake, Jan-Peter, additional, Aepfelbacher, Martin, additional, Fischer, Nicole, additional, Lütgehetmann, Marc, additional, Pfefferle, Susanne, additional, Glatzel, Markus, additional, Krasemann, Susanne, additional, Matschke, Jakob, additional, Jonigk, Danny, additional, Werlein, Christopher, additional, Schirmacher, Peter, additional, Domke, Lisa Maria, additional, Hartmann, Laura, additional, Klein, Isabel Madeleine, additional, Schwab, Constantin, additional, Röcken, Christoph, additional, Friemann, Johannes, additional, Langer, Dorothea, additional, Roth, Wilfried, additional, Strobl, Stephanie, additional, Rudelius, Martina, additional, Stock, Konrad Friedrich, additional, Weichert, Wilko, additional, Delbridge, Claire, additional, Kasajima, Atsuko, additional, Kuhn, Peer-Hendrik, additional, Slotta-Huspenina, Julia, additional, Weirich, Gregor, additional, Barth, Peter, additional, Wardelmann, Eva, additional, Evert, Katja, additional, Büttner, Andreas, additional, Manhart, Johannes, additional, Nigbur, Stefan, additional, Bittmann, Iris, additional, Fend, Falko, additional, Bösmüller, Hans, additional, Granai, Massimo, additional, Klingel, Karin, additional, Warm, Verena, additional, Steinestel, Konrad, additional, Umathum, Vincent Gottfried, additional, Rosenwald, Andreas, additional, Kurz, Florian, additional, and Vogt, Niklas, additional

Published
2022
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84. The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

Author

López-Rivera, Javier A., primary, Leu, Costin, additional, Macnee, Marie, additional, Khoury, Jean, additional, Hoffmann, Lucas, additional, Coras, Roland, additional, Kobow, Katja, additional, Bhattarai, Nisha, additional, Pérez-Palma, Eduardo, additional, Hamer, Hajo, additional, Brandner, Sebastian, additional, Rössler, Karl, additional, Bien, Christian G., additional, Kalbhenn, Thilo, additional, Pieper, Tom, additional, Hartlieb, Till, additional, Butler, Elizabeth, additional, Genovese, Giulio, additional, Becker, Kerstin, additional, Altmüller, Janine, additional, Niestroj, Lisa-Marie, additional, Ferguson, Lisa, additional, Busch, Robyn M., additional, Nürnberg, Peter, additional, Najm, Imad, additional, Blümcke, Ingmar, additional, and Lal, Dennis, additional

Published
2022
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85. Role of NODDI in the MRI Characterization of Hippocampal Abnormalities in Temporal Lobe Epilepsy

Author

Giachetti, Isabella, primary, Padelli, Francesco, additional, Aquino, Domenico, additional, Garbelli, Rita, additional, De Santis, Dalia, additional, Rossini, Laura, additional, Deleo, Francesco, additional, Pascuzzo, Riccardo, additional, Coras, Roland, additional, Marucci, Gianluca, additional, Tringali, Giovanni, additional, Maccagnano, Carmelo, additional, De Curtis, Marco, additional, Bruzzone, Maria Grazia, additional, and Didato, Giuseppe, additional

Published
2022
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88. Intracranial hemorrhage in COVID-19 patients during extracorporeal membrane oxygenation for acute respiratory failure : a nationwide register study report

Author

von Stillfried, Saskia, Bülow, Roman David, Wienströer, Jan, Pfefferle, Susanne, Glatzel, Markus, Krasemann, Susanne, Matschke, Jakob, Jonigk, Danny, Werlein, Christopher, Schirmacher, Peter, Domke, Lisa Maria, Hartmann, Laura, Klein, Isabel Madeleine, Weis, Joachim, Schwab, Constantin, Röcken, Christoph, Friemann, Johannes, Langer, Dorothea, Roth, Wilfried, Strobl, Stephanie, Rudelius, Martina, Stock, Konrad Friedrich, Weichert, Wilko, Delbridge, Claire, Bremer, Juliane, Kasajima, Atsuko, Kuhn, Peer-Hendrik, Slotta-Huspenina, Julia, Weirich, Gregor, Barth, Peter, Wardelmann, Eva, Schnepper, Alexander, Evert, Katja, Büttner, Andreas, Manhart, Johannes, Knüchel, R., Nigbur, Stefan, Bittmann, Iris, Fend, Falko, Bösmüller, Hans, Granai, Massimo, Klingel, Karin, Warm, Verena, Steinestel, Konrad, Umathum, Vincent Gottfried, Rosenwald, Andreas, Breitbach, Anna, Kurz, Florian, Vogt, Niklas, Cacchi, Claudio, Freeborn, Benita, Wucherpfennig, Sophie, Spring, Oliver, Braun, Georg, Röhrig, Rainer, Römmele, Christoph, Märkl, Bruno, Claus, Rainer, Dhillon, Christine, Schaller, Tina, Sipos, Eva, Hirschbühl, Klaus, Wittmann, Michael, Kling, Elisabeth, Kröncke, Thomas, Meybohm, Patrick, Heppner, Frank L., Meinhardt, Jenny, Radbruch, Helena, Streit, Simon, Horst, David, Elezkurtaj, Sefer, Quaas, Alexander, Göbel, Heike, Hansen, Torsten, Titze, Ulf, Boor, Peter, Lorenzen, Johann, Reuter, Thomas, Woloszyn, Jaroslaw, Baretton, Gustavo, Hilsenbeck, Julia, Meinhardt, Matthias, Pablik, Jessica, Sommer, Linna, Holotiuk, Olaf, Meinel, Meike, DeRegCOVID Collaborators, Mahlke, Nina, Esposito, Irene, Crudele, Graziano, Seidl, Maximilian, Amann, Kerstin U., Coras, Roland, Hartmann, Arndt, Eichhorn, Philip, Haller, Florian, Lange, Fabienne, Böcker, Jana, Schmid, Kurt Werner, Ingenwerth, Marc, Rawitzer, Josefine, Theegarten, Dirk, Birngruber, Christoph G., Wild, Peter, Gradhand, Elise, Smith, Kevin, Werner, Martin, Schilling, Oliver, Schmidt, Jens, Acker, Till, Gattenlöhner, Stefan, Stadelmann, Christine, Metz, Imke, Franz, Jonas, Stork, Lidia, Thomas, Carolina, Zechel, Sabrina, Ströbel, Philipp, Wickenhauser, Claudia, Tholen, Pauline, Fathke, Christine, Harder, Anja, Ondruschka, Benjamin, Dietz, Eric, Edler, Carolin, Fitzek, Antonia, Fröb, Daniela, Heinemann, Axel, Heinrich, Fabian, Klein, Anke, Majeed, Raphael, Kniep, Inga, Lohner, Larissa, Möbius, Dustin, Püschel, Klaus, Schädler, Julia, Schröder, Ann-Sophie, Sperhake, Jan-Peter, Aepfelbacher, Martin, Fischer, Nicole, and Lütgehetmann, Marc

Subjects
ddc:610
Published
2022
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91. Increased expression of complement components in tuberous sclerosis complex and focal cortical dysplasia type 2B brain lesions

Author

Gruber, Victoria‐Elisabeth, primary, Luinenburg, Mark J., additional, Colleselli, Katrin, additional, Endmayr, Verena, additional, Anink, Jasper J., additional, Zimmer, Till S., additional, Jansen, Floor, additional, Gosselaar, Peter, additional, Coras, Roland, additional, Scholl, Theresa, additional, Blumcke, Ingmar, additional, Pimentel, José, additional, Hainfellner, Johannes A., additional, Höftberger, Romana, additional, Rössler, Karl, additional, Feucht, Martha, additional, Scheppingen, Jackelien, additional, Aronica, Eleonora, additional, and Mühlebner, Angelika, additional

Published
2021
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93. Complicated clinical course in incipient gigantism due to a treatment resistant, AIP-mutated pediatric somatotropinoma

Author

Sanne van Santen, Selveta, primary, Daly, Adrian F., additional, Buchfelder, Michael, additional, Coras, Roland, additional, Zhao, Yining, additional, Beckers, Albert, additional, van der Lely, Aart Jan, additional, Hofland, Leo J., additional, Balvers, Rutger K., additional, van Koetsveld, P., additional, van den Heuvel-Eibrink, Marry Marrigje, additional, and Martinus Maria Neggers, Sebastian Johannes Cornelis, additional

Published
2021
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97. DNA methylation-based classification of malformations of cortical development in the human brain

Author

Jabari, Samir, primary, Kobow, Katja, additional, Pieper, Tom, additional, Hartlieb, Till, additional, Kudernatsch, Manfred, additional, Polster, Tilman, additional, Bien, Christian G., additional, Kalbhenn, Thilo, additional, Simon, Matthias, additional, Hamer, Hajo, additional, Rössler, Karl, additional, Feucht, Martha, additional, Mühlebner, Angelika, additional, Najm, Imad, additional, Peixoto-Santos, José Eduardo, additional, Gil-Nagel, Antonio, additional, Delgado, Rafael Toledano, additional, Aledo-Serrano, Angel, additional, Hou, Yanghao, additional, Coras, Roland, additional, von Deimling, Andreas, additional, and Blümcke, Ingmar, additional

Published
2021
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98. Multilobar unilateral hypoplasia with emphasis on the posterior quadrant and severe epilepsy in children with FCD ILAE Type 1A

Author

Holthausen, Hans, primary, Coras, Roland, additional, Tang, Yingying, additional, Bai, Lily, additional, Wang, Irene, additional, Pieper, Tom, additional, Kudernatsch, Manfred, additional, Hartlieb, Till, additional, Staudt, Martin, additional, Winkler, Peter, additional, Hofer, Wiebke, additional, Jabari, Samir, additional, Kobow, Katja, additional, and Blumcke, Ingmar, additional

Published
2021
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99. Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex

Author

Bongaarts, Anika, primary, Mijnsbergen, Caroline, additional, Anink, Jasper J., additional, Jansen, Floor E., additional, Spliet, Wim G. M., additional, den Dunnen, Wilfred F. A., additional, Coras, Roland, additional, Blümcke, Ingmar, additional, Paulus, Werner, additional, Gruber, Victoria E., additional, Scholl, Theresa, additional, Hainfellner, Johannes A., additional, Feucht, Martha, additional, Kotulska, Katarzyna, additional, Jozwiak, Sergiusz, additional, Grajkowska, Wieslawa, additional, Buccoliero, Anna Maria, additional, Caporalini, Chiara, additional, Giordano, Flavio, additional, Genitori, Lorenzo, additional, Söylemezoğlu, Figen, additional, Pimentel, José, additional, Jones, David T. W., additional, Scicluna, Brendon P., additional, Schouten-van Meeteren, Antoinette Y. N., additional, Mühlebner, Angelika, additional, Mills, James D., additional, and Aronica, Eleonora, additional

Published
2021
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100. Glucocorticoid modulation of synaptic plasticity in the human temporal cortex of epilepsy patients: Does chronic stress contribute to memory impairment?

Author

Brandner, Sebastian, primary, Schroeter, Sarah, additional, Çalışkan, Gürsel, additional, Salar, Seda, additional, Kobow, Katja, additional, Coras, Roland, additional, Blümcke, Ingmar, additional, Hamer, Hajo, additional, Schwarz, Michael, additional, Buchfelder, Michael, additional, and Maslarova, Anna, additional

Published
2021
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