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1. Correction to: Implementation of a 7T Epilepsy Task Force consensus imaging protocol for routine presurgical epilepsy work-up: effect on diagnostic yield and lesion delineation

Author

Hangel, Gilbert, Kasprian, Gregor, Chambers, Stefanie, Haider, Lukas, Lazen, Philipp, Koren, Johannes, Diehm, Robert, Moser, Katharina, Tomschik, Matthias, Wais, Jonathan, Winter, Fabian, Zeiser, Vitalij, Gruber, Stephan, Aull-Watschinger, Susanne, Traub-Weidinger, Tatjana, Baumgartner, Christoph, Feucht, Martha, Dorfer, Christian, Bogner, Wolfgang, Trattnig, Siegfried, Pataraia, Ekaterina, and Roessler, Karl

Published
2024
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2. Implementation of a 7T Epilepsy Task Force consensus imaging protocol for routine presurgical epilepsy work-up: effect on diagnostic yield and lesion delineation

Author

Hangel, Gilbert, Kasprian, Gregor, Chambers, Stefanie, Haider, Lukas, Lazen, Philipp, Koren, Johannes, Diehm, Robert, Moser, Katharina, Tomschik, Matthias, Wais, Jonathan, Winter, Fabian, Zeiser, Vitalij, Gruber, Stephan, Aull-Watschinger, Susanne, Traub-Weidinger, Tatjana, Baumgartner, Christoph, Feucht, Martha, Dorfer, Christian, Bogner, Wolfgang, Trattnig, Siegfried, Pataraia, Ekaterina, and Roessler, Karl

Published
2024
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3. Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years

Author

Huschner, Franz, Głowacka-Walas, Jagoda, Mills, James D., Klonowska, Katarzyna, Lasseter, Kathryn, Asara, John M., Moavero, Romina, Hertzberg, Christoph, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Scholl, Theresa, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Petrák, Bořivoj, van Scheppingen, Jackelien, Zamecnik, Josef, Iyer, Anand, Anink, Jasper J., Mühlebner, Angelika, Mijnsbergen, Caroline, Lagae, Lieven, Curatolo, Paolo, Borkowska, Julita, Sadowski, Krzysztof, Domańska-Pakieła, Dorota, Blazejczyk, Magdalena, Jansen, Floor E., Janson, Stef, Urbanska, Malgorzata, Tempes, Aleksandra, Janssen, Bart, Sijko, Kamil, Wojdan, Konrad, Jozwiak, Sergiusz, Kotulska, Katarzyna, Lehmann, Karola, Aronica, Eleonora, Jaworski, Jacek, and Kwiatkowski, David J.

Published
2023
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4. Amplification of human interneuron progenitors promotes brain tumors and neurological defects

Author

Eichmüller, Oliver L, Corsini, Nina S, Vértesy, Ábel, Morassut, Ilaria, Scholl, Theresa, Gruber, Victoria-Elisabeth, Peer, Angela M, Chu, Julia, Novatchkova, Maria, Hainfellner, Johannes A, Paredes, Mercedes F, Feucht, Martha, and Knoblich, Jürgen A

Subjects
Cancer, Pediatric, Neurodegenerative, Rare Diseases, Stem Cell Research - Nonembryonic - Human, Tuberous Sclerosis, Epilepsy, Congenital Structural Anomalies, Stem Cell Research, Stem Cell Research - Nonembryonic - Non-Human, Neurosciences, Brain Disorders, Underpinning research, 2.1 Biological and endogenous factors, Aetiology, 1.1 Normal biological development and functioning, Neurological, Brain, Brain Neoplasms, Carcinogenesis, Cell Lineage, Cell Proliferation, Disease Progression, ErbB Receptors, Gene Expression Profiling, Humans, Induced Pluripotent Stem Cells, Interneurons, Loss of Heterozygosity, Neural Stem Cells, Organoids, RNA-Seq, TOR Serine-Threonine Kinases, Tuberous Sclerosis Complex 1 Protein, Tuberous Sclerosis Complex 2 Protein, General Science & Technology
Abstract

Evolutionary development of the human brain is characterized by the expansion of various brain regions. Here, we show that developmental processes specific to humans are responsible for malformations of cortical development (MCDs), which result in developmental delay and epilepsy in children. We generated a human cerebral organoid model for tuberous sclerosis complex (TSC) and identified a specific neural stem cell type, caudal late interneuron progenitor (CLIP) cells. In TSC, CLIP cells over-proliferate, generating excessive interneurons, brain tumors, and cortical malformations. Epidermal growth factor receptor inhibition reduces tumor burden, identifying potential treatment options for TSC and related disorders. The identification of CLIP cells reveals the extended interneuron generation in the human brain as a vulnerability for disease. In addition, this work demonstrates that analyzing MCDs can reveal fundamental insights into human-specific aspects of brain development.

Published
2022

5. Comparison of the real‐world effectiveness of vertical versus lateral functional hemispherotomy techniques for pediatric drug‐resistant epilepsy: A post hoc analysis of the HOPS study

Author

Fallah, Aria, Lewis, Evan, Ibrahim, George M, Kola, Olivia, Tseng, Chi‐Hong, Harris, William B, Chen, Jia‐Shu, Lin, Kao‐Min, Cai, Li‐Xin, Liu, Qing‐Zhu, Lin, Jiu‐Luan, Zhou, Wen‐Jing, Mathern, Gary W, Smyth, Matthew D, O'Neill, Brent R, Dudley, Roy WR, Ragheb, John, Bhatia, Sanjiv, Delev, Daniel, Ramantani, Georgia, Zentner, Josef, Wang, Anthony C, Dorfer, Christian, Feucht, Martha, Czech, Thomas, Bollo, Robert J, Issabekov, Galymzhan, Zhu, Hongwei, Connolly, Mary, Steinbok, Paul, Zhang, Jian‐Guo, Zhang, Kai, Hidalgo, Eveline Teresa, Weiner, Howard L, Wong‐Kisiel, Lily, Lapalme‐Remis, Samuel, Tripathi, Manjari, Chandra, Poodipedi Sarat, Hader, Walter, Wang, Feng‐Peng, Yao, Yi, Champagne, Pierre‐Olivier, Brunette‐Clément, Tristan, Guo, Qiang, Li, Shao‐Chun, Budke, Marcelo, Pérez‐Jiménez, Maria Angeles, Raftopoulos, Christian, Finet, Patrice, Michel, Pauline, Schaller, Karl, Stienen, Martin N, Baro, Valentina, Malone, Christian Cantillano, Pociecha, Juan, Chamorro, Noelia, Muro, Valeria L, Lehe, Marec, Vieker, Silvia, Oluigbo, Chima, Gaillard, William D, Al‐Khateeb, Mashael, Otaibi, Faisal Al, Krayenbühl, Niklaus, Bolton, Jeffrey, Pearl, Phillip L, and Weil, Alexander G

Subjects
Neurodegenerative, Clinical Research, Epilepsy, Neurosciences, Brain Disorders, Clinical Trials and Supportive Activities, Child, Drug Resistant Epilepsy, Hemispherectomy, Humans, Pilot Projects, Prospective Studies, Retrospective Studies, Seizures, Treatment Outcome, hemispherectomy, hemispherotomy, seizure outcomes, technique, Clinical Sciences, Neurology & Neurosurgery
Abstract

ObjectiveThis study was undertaken to determine whether the vertical parasagittal approach or the lateral peri-insular/peri-Sylvian approach to hemispheric surgery is the superior technique in achieving long-term seizure freedom.MethodsWe conducted a post hoc subgroup analysis of the HOPS (Hemispheric Surgery Outcome Prediction Scale) study, an international, multicenter, retrospective cohort study that identified predictors of seizure freedom through logistic regression modeling. Only patients undergoing vertical parasagittal, lateral peri-insular/peri-Sylvian, or lateral trans-Sylvian hemispherotomy were included in this post hoc analysis. Differences in seizure freedom rates were assessed using a time-to-event method and calculated using the Kaplan-Meier survival method.ResultsData for 672 participants across 23 centers were collected on the specific hemispherotomy approach. Of these, 72 (10.7%) underwent vertical parasagittal hemispherotomy and 600 (89.3%) underwent lateral peri-insular/peri-Sylvian or trans-Sylvian hemispherotomy. Seizure freedom was obtained in 62.4% (95% confidence interval [CI] = 53.5%-70.2%) of the entire cohort at 10-year follow-up. Seizure freedom was 88.8% (95% CI = 78.9%-94.3%) at 1-year follow-up and persisted at 85.5% (95% CI = 74.7%-92.0%) across 5- and 10-year follow-up in the vertical subgroup. In contrast, seizure freedom decreased from 89.2% (95% CI = 86.3%-91.5%) at 1-year to 72.1% (95% CI = 66.9%-76.7%) at 5-year to 57.2% (95% CI = 46.6%-66.4%) at 10-year follow-up for the lateral subgroup. Log-rank test found that vertical hemispherotomy was associated with durable seizure-free progression compared to the lateral approach (p = .01). Patients undergoing the lateral hemispherotomy technique had a shorter time-to-seizure recurrence (hazard ratio = 2.56, 95% CI = 1.08-6.04, p = .03) and increased seizure recurrence odds (odds ratio = 3.67, 95% CI = 1.05-12.86, p = .04) compared to those undergoing the vertical hemispherotomy technique.SignificanceThis pilot study demonstrated more durable seizure freedom of the vertical technique compared to lateral hemispherotomy techniques. Further studies, such as prospective expertise-based observational studies or a randomized clinical trial, are required to determine whether a vertical approach to hemispheric surgery provides superior long-term seizure outcomes.

Published
2021

6. Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Author

Stevelink, Remi, Luykx, Jurjen J, Lin, Bochao D, Leu, Costin, Lal, Dennis, Smith, Alexander W, Schijven, Dick, Carpay, Johannes A, Rademaker, Koen, Baldez, Roiza A Rodrigues, Devinsky, Orrin, Braun, Kees PJ, Jansen, Floor E, Smit, Dirk JA, Koeleman, Bobby PC, Abou‐Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J, Bast, Thomas, Baum, Larry, Becker, Albert J, Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F, Boysen, Katja E, Bradfield, Jonathan P, Brody, Lawrence C, Buono, Russell J, Campbell, Ellen, Cascino, Gregory D, Catarino, Claudia B, Cavalleri, Gianpiero L, Cherny, Stacey S, Chinthapalli, Krishna, Coffey, Alison J, Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J, de Haan, Gerrit‐Jan, De Jonghe, Peter, de Kovel, Carolien GF, Delanty, Norman, Depondt, Chantal, Dlugos, Dennis J, Doherty, Colin P, Elger, Christian E, Eriksson, Johan G, Ferraro, Thomas N, Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A, Freytag, Saskia, Gaus, Verena, Geller, Eric B, Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B, Gui, Hongsheng, Guo, Youling, Haas, Kevin F, Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L, Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andrés, Jamnadas‐Khoda, Jennifer, Johnson, Michael R, Kälviäinen, Reetta, Kantanen, Anne‐Mari, Kasperavičiūte, Dalia, Trenite, Dorothee Kasteleijn‐Nolst, Kirsch, Heidi E, Knowlton, Robert C, Krause, Roland, Krenn, Martin, Kunz, Wolfram S, Kuzniecky, Ruben, Kwan, Patrick, Lau, Yu‐Lung, Lehesjoki, Anna‐Elina, Lerche, Holger, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D, Lopes‐Cendes, Iscia, Lowenstein, Daniel H, Malovini, Alberto, Marson, Anthony G, Mayer, Thomas, McCormack, Mark, and Mills, James L

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetics, Brain Disorders, Clinical Research, Human Genome, Neurodegenerative, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Algorithms, Beta Rhythm, Cohort Studies, Databases, Factual, Electroencephalography, Epilepsy, Generalized, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Mendelian Randomization Analysis, Risk Assessment, Theta Rhythm, beta power, EEG, generalized epilepsy, GGE, oscillations, PRS, International League Against Epilepsy Consortium on Complex Epilepsies, Epi25 Collaborative, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveParoxysmal epileptiform abnormalities on electroencephalography (EEG) are the hallmark of epilepsies, but it is uncertain to what extent epilepsy and background EEG oscillations share neurobiological underpinnings. Here, we aimed to assess the genetic correlation between epilepsy and background EEG oscillations.MethodsConfounding factors, including the heterogeneous etiology of epilepsies and medication effects, hamper studies on background brain activity in people with epilepsy. To overcome this limitation, we compared genetic data from a genome-wide association study (GWAS) on epilepsy (n = 12 803 people with epilepsy and 24 218 controls) with that from a GWAS on background EEG (n = 8425 subjects without epilepsy), in which background EEG oscillation power was quantified in four different frequency bands: alpha, beta, delta, and theta. We replicated our findings in an independent epilepsy replication dataset (n = 4851 people with epilepsy and 20 428 controls). To assess the genetic overlap between these phenotypes, we performed genetic correlation analyses using linkage disequilibrium score regression, polygenic risk scores, and Mendelian randomization analyses.ResultsOur analyses show strong genetic correlations of genetic generalized epilepsy (GGE) with background EEG oscillations, primarily in the beta frequency band. Furthermore, we show that subjects with higher beta and theta polygenic risk scores have a significantly higher risk of having generalized epilepsy. Mendelian randomization analyses suggest a causal effect of GGE genetic liability on beta oscillations.SignificanceOur results point to shared biological mechanisms underlying background EEG oscillations and the susceptibility for GGE, opening avenues to investigate the clinical utility of background EEG oscillations in the diagnostic workup of epilepsy.

Published
2021

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

Author

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
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10. Targeting the EGFR pathway: An alternative strategy for the treatment of tuberous sclerosis complex?

Author

Schachenhofer, Julia, primary, Gruber, Victoria‐Elisabeth, additional, Fehrer, Stefanie Valerie, additional, Haider, Carmen, additional, Glatter, Sarah, additional, Liszewska, Ewa, additional, Höftberger, Romana, additional, Aronica, Eleonora, additional, Rössler, Karl, additional, Jaworski, Jacek, additional, Scholl, Theresa, additional, and Feucht, Martha, additional

Published
2024
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11. Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

Author

Mills, James D., Iyer, Anand M., van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper J., Janssen, Bart, Zimmer, Till S., Spliet, Wim G., van Rijen, Peter C., Jansen, Floor E., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Kotulska, Katarzyna, Jozwiak, Sergiusz, Jansen, Anna, Lagae, Lieven, Curatolo, Paolo, Kwiatkowski, David J., Pasterkamp, R. Jeroen, Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F., Gorter, Jan A., Crino, Peter B., Mühlebner, Angelika, Scicluna, Brendon P., and Aronica, Eleonora

Published
2022
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12. Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period

Author

Korotkov, Anatoly, Luinenburg, Mark J., Romagnolo, Alessia, Zimmer, Till S., van Scheppingen, Jackelien, Bongaarts, Anika, Broekaart, Diede W. M., Anink, Jasper J., Mijnsbergen, Caroline, Jansen, Floor E., van Hecke, Wim, Spliet, Wim G., van Rijen, Peter C., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Crino, Peter B., Kotulska, Katarzyna, Lagae, Lieven, Jansen, Anna C., Kwiatkowski, David J., Jozwiak, Sergiusz, Curatolo, Paolo, Mühlebner, Angelika, van Vliet, Erwin A., Mills, James D., and Aronica, Eleonora

Published
2022
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13. DNA methylation-based classification of malformations of cortical development in the human brain

Author

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

Published
2022
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15. Ketogene Diäten

Author

Feucht, Martha, Schmitt, F.C., editor, Stefan, Hermann, editor, and Holtkamp, Martin, editor

Published
2020
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16. Results of quantitative EEG analysis are associated with autism spectrum disorder and development abnormalities in infants with tuberous sclerosis complex

Author

Lavanga, Mario, De Ridder, Jessie, Kotulska, Katarzyna, Moavero, Romina, Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Domanska-Pakieła, Dorota, Kaczorowska-Frontczak, Magdalena, Hertzberg, Christoph, Ferrier, Cyrille H., Samueli, Sharon, Jahodova, Alena, Aronica, Eleonora, Kwiatkowski, David J., Jansen, Floor E., Jóźwiak, Sergiusz, Lagae, Lieven, Van Huffel, Sabine, and Caicedo, Alexander

Published
2021
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17. Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex

Author

Curatolo, P., Lagae, L., Jansen, A., Aronica, E., Kwiatkowski, D., Weschke, B., Wojdan, K., Sijko, K., Głowacka, J., Borkowska, J., Sadowski, K., Domańska-Pakieła, D., Anink, J., Benvenuto, A., Blazejczyk, M., Bongaerts, A., Chmielewski, D., Dabrowska, M., De Ridder, J., Giannikou, K., Hamieh, L., Haręza, A., Iyer, A., Janssen, B., Jaworski, J., Kaczorowska-Frontczak, M., Lehmann, K., Leusman, A., Maćkowiak, N., Mills, J., Muelebner, A., Scheldeman, C., Sciuto, A., Slowinska, M., Tempes, A., van Scheppingen, J., Verhelle, B., Vervisch, J., Urbańska, M., Hulshof, Hanna M., Slot, Emma M.H., Lequin, Maarten, Breuillard, Delphine, Boddaert, Nathalie, Jozwiak, Sergiusz, Kotulska, Katarzyna, Riney, Kate, Feucht, Martha, Samueli, Sharon, Scholl, Theresa, Krsek, Pavel, Benova, Barbora, Braun, Kees P.J., Jansen, Floor E., and Nabbout, Rima

Published
2021
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18. Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex

Author

Hulshof, Hanna M., Kuijf, Hugo J., Kotulska, Katarzyna, Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Krsek, Pavel, Feucht, Martha, Nabbout, Rima, Lagae, Lieven, Jansen, Anna, Otte, Wim M, Lequin, Maarten H, Sijko, Kamil, Benvenuto, Arianna, Hertzberg, Christoph, Benova, Barbora, Scholl, Theresa, De Ridder, Jessie, Aronica, EleonoraM.A., Kwiatkowski, David J, Jozwiak, Sergiusz, Jurkiewicz, Elzbieta, Braun, Kees, and Jansen, Floor E

Published
2022
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19. Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study

Author

Aichholzer, Martin, Amorim, Isabel, Aparicio, Javier, Aronica, Eleonora, Arzimanoglou, Alexis, Barba, Carmen, Beck, Jürgen, Becker, Albert, Beckervordersandforth, Jan C, Bien, Christian G, Blümcke, Ingmar, Bodi, Istvan, Braun, Kees PJ, Catenoix, Helene, Chassoux, Francine, Chipaux, Mathilde, Cloppenborg, Thomas, Coras, Roland, Cross, J Helen, De Palma, Luca, De Tisi, Jane, Deleo, Francesco, Devaux, Bertrand, Di Gennaro, Giancarlo, Dorfmüller, Georg, Duncan, John S, Elger, Christian, Ernst, Katharina, Esposito, Vincenzo, Feucht, Martha, Gadze, Zeljka Petelin, Garbelli, Rita, Geleijns, Karin, Gil-Nagel, Antonio, Grote, Alexander, Grunwald, Thomas, Guerrini, Renzo, Hamer, Hajo, Honavar, Mrinalini, Jacques, Thomas S, Jakovcevic, Antonia, Jutila, Leena, Kalina, Adam, Kälviäinen, Reetta, Klein, Karl Martin, Koenig, Kristina, Krsek, Pavel, Kudernatsch, Manfred, Kudr, Martin, Lamberink, Herm J, Malmgren, Kristina, Marusic, Petr, Melikyan, Armen, Menzler, Katja, Noachtar, Soheyl, Otte, Willem M, Özkara, Çiğdem, Pieper, Tom, Pimentel, Jose, Raicevic, Savo, Rheims, Sylvain, Ribeiro, Joana, Rosenow, Felix, Rössler, Karl, Rydenhag, Bertil, Sales, Francisco, San Antonio-Arce, Victoria, Schaller, Karl Lothar, Schijns, Olaf, Scholl, Theresa, Schramm, Johannes, Schulze-Bonhage, Andreas, Sciot, Raf, Seeck, Margitta, Shishkina, Lyudmila, Sokic, Dragoslav, Specchio, Nicola, Theys, Tom, Thom, Maria, Delgado, Rafael Toledano, Toulouse, Joseph, Uzan, Mustafa, van Loon, Johannes, Van Paesschen, Wim, von Oertzen, Tim J, Jansen, Floor, Leijten, Frans, van Rijen, Peter, Spliet, Wim GM, Mühlebner, Angelika, Kasper, Burkhard S, Fauser, Susanne, Polster, Tilman, Kalbhenn, Thilo, Delev, Daniel, McEvoy, Andrew, Miserocchi, Anna, Landré, Elisabeth, Turak, Bares, Varlet, Pascale, Ferrand-Sorbets, Sarah, Fohlen, Martine, Bulteau, Christine, Edelvik, Anna, Shah, Mukesch J, Scheiwe, Christian, Delicado, Eva Gutierrez, Tisdall, Martin, Eltze, Christin, Akkol, Serdar, Deniz, Kaancan, Oz, Buge, Holthausen, Hans, Hartlieb, Till, Staudt, Martin, Casciato, Sara, Quarato, Pier P, Giangaspero, Felice, Streichenberger, Nathalie, Guenot, Marc, Isnard, Jean, Valentijn, Antonio, Chang, Amanda, Mullatti, Nandini, Zamecnik, Josef, Zarubova, Jana, Tomasek, Martin, Immonen, Arto, Saarela, Anni, Rauramaa, Tuomas, Lobrinus, Johannes A, Egervari, Kristof, Momjian, Shahan, Harti, Elisabeth, Lohr, Hannah, Kroell, Judith, Vermeulen, Lynn, Cleeren, Evy, Vlasov, Pavel, Kozlova, Antonia, Vorobyev, Alexey, Goeppel, Gudrun, Samueli, Sharon, Czech, Thomas, Hainfellner, Johannes, Puttinger, Gertraud, Schwarz, Gabriele, Stefanits, Harald, Weis, Serge, Spreafico, Roberto, Villani, Flavio, Rossini, Laura, Hermsen, Anke, Knake, Susanne, Nimsky, Christopher, Carl, Barbara, Belohlavkova, Anezka, Benova, Barbora, Bisschop, Jeroen, Colon, Albert, van Kranen-Mastenbroek, Vivianne, Rouhl, Rob PW, Hoogland, Govert, Rumiá, Jordi, Ramírez-Camacho, Alia, Candela-Cantó, Santiago, Ostrowsky-Coste, Karine, Panagiotakaki, Eleni, Montavont, Alexandra, Kosal, Pascale Keo, Gokce-Samar, Zeynep, Milleret, Clara, Buccoliero, Anna M, Giordano, Flavio, Sulentic, Vlatko, Mrak, Goran, Desnica, Andrej, CarfíPavia, Giusy, De Benedictis, Alessandro, Marras, Carlo E, Bascarevic, Vladimir, Vojvodic, Nikola, Ristic, Aleksandar, Rebelo, Olinda, Aledo-Serrano, Angel, Garcia-Morales, Irene, Anciones, Carla, and Braun, Kees P J

Published
2020
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20. Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay

Author

Kobow, Katja, Jabari, Samir, Pieper, Tom, Kudernatsch, Manfred, Polster, Tilman, Woermann, Friedrich G., Kalbhenn, Thilo, Hamer, Hajo, Rössler, Karl, Mühlebner, Angelika, Spliet, Wim G. M., Feucht, Martha, Hou, Yanghao, Stichel, Damian, Korshunov, Andrey, Sahm, Felix, Coras, Roland, Blümcke, Ingmar, and von Deimling, Andreas

Published
2020
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22. Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS)

Author

Weil, Alexander G., primary, Dimentberg, Evan, additional, Lewis, Evan, additional, Ibrahim, George M., additional, Kola, Olivia, additional, Tseng, Chi‐Hong, additional, Chen, Jia‐Shu, additional, Lin, Kao‐Min, additional, Cai, Li‐Xin, additional, Liu, Qing‐Zhu, additional, Lin, Jiu‐Luan, additional, Zhou, Wen‐Jing, additional, Mathern, Gary W., additional, Smyth, Matthew D., additional, O'Neill, Brent R., additional, Dudley, Roy, additional, Ragheb, John, additional, Bhatia, Sanjiv, additional, Delev, Daniel, additional, Ramantani, Georgia, additional, Zentner, Josef, additional, Wang, Anthony C., additional, Dorfer, Christian, additional, Feucht, Martha, additional, Czech, Thomas, additional, Bollo, Robert J., additional, Issabekov, Galymzhan, additional, Zhu, Hongwei, additional, Connolly, Mary, additional, Steinbok, Paul, additional, Zhang, Jian‐Guo, additional, Zhang, Kai, additional, Hidalgo, Eveline Teresa, additional, Weiner, Howard L., additional, Wong‐Kisiel, Lily, additional, Lapalme‐Remis, Samuel, additional, Tripathi, Manjari, additional, Sarat Chandra, Poodipedi, additional, Hader, Walter, additional, Wang, Feng‐Peng, additional, Yao, Yi, additional, Champagne, Pierre Olivier, additional, Brunette‐Clément, Tristan, additional, Guo, Qiang, additional, Li, Shao‐Chun, additional, Budke, Marcelo, additional, Pérez‐Jiménez, Maria Angeles, additional, Raftopoulos, Christian, additional, Finet, Patrice, additional, Michel, Pauline, additional, Schaller, Karl, additional, Stienen, Martin N., additional, Baro, Valentina, additional, Cantillano Malone, Christian, additional, Pociecha, Juan, additional, Chamorro, Noelia, additional, Muro, Valeria L., additional, von Lehe, Marec, additional, Vieker, Silvia, additional, Oluigbo, Chima, additional, Gaillard, William D., additional, Al Khateeb, Mashael, additional, Al Otaibi, Faisal, additional, Krayenbühl, Niklaus, additional, Bolton, Jeffrey, additional, Pearl, Phillip L., additional, and Fallah, Aria, additional

Published
2023
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23. Technical Note: Advantages of a 2-Room Intraoperative 3-Tesla Magnetic Resonance Imaging Operating Suite for Performing Laser Interstitial Thermal Therapy in Pediatric Epilepsy and Tumor Surgery

Author

Tomschik, Matthias, primary, Herta, Johannes, additional, Wais, Jonathan, additional, Winter, Fabian, additional, Hangel, Gilbert, additional, Kasprian, Gregor, additional, Feucht, Martha, additional, Dorfer, Christian, additional, and Roessler, Karl, additional

Published
2023
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25. Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

Author

Bobbili, Dheeraj R., Lal, Dennis, May, Patrick, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael, Jurkowski, Wiktor, Feucht, Martha, Nürnberg, Peter, Lerche, Holger, Zimprich, Fritz, Krause, Roland, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz, Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmüller, Janine, Lal, Dennis, Nürnberg, Peter, Sander, Thomas, Thiele, Holger, Krause, Roland, May, Patrick, Balling, Rudi, Lerche, Holger, Neubauer, Bernd A., and EUROEPINOMICS COGIE Consortium

Published
2018
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26. Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

Author

Tallgren, Antti, primary, Kager, Leo, additional, O’Grady, Gina, additional, Tuominen, Hannu, additional, Körkkö, Jarmo, additional, Kuismin, Outi, additional, Feucht, Martha, additional, Wilson, Callum, additional, Behunova, Jana, additional, England, Eleina, additional, Kurki, Mitja I., additional, Palotie, Aarno, additional, Hallman, Mikko, additional, Kaarteenaho, Riitta, additional, Laccone, Franco, additional, Boztug, Kaan, additional, Hinttala, Reetta, additional, and Uusimaa, Johanna, additional

Published
2023
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27. Neuropsychiatrische Manifestationen bei Tuberöser Sklerose (TSC): Diagnostische Leitlinien, TAND-Konzept und Therapie mit mTOR-Inhibitoren

Author

Waltereit, Robert, Feucht, Martha, de Vries, Magdalena C., Huemer, Julia, Roessner, Veit, and de Vries, Petrus J.

Abstract

Zusammenfassung.Obwohl insgesamt selten („orphan disease“ mit einer Inzidenz von 1:6000), ist die Tuberöse Sklerose (TSC) eine der häufigsten monogenetisch bedingten Erkrankungen mit Bedeutung für die Kinder- und Jugendpsychiatrie. TSC führt bei bis zu 90 % der Betroffenen zu neurologischen Störungen wie Epilepsie und ebenfalls bei bis zu 90 % zu psychiatrischen Manifestationen wie Autismus-Spektrum-Störungen, Aufmerksamkeitsdefizit-/Hyperaktivitätsstörung, affektiven Störungen und Intelligenzminderung. In den letzten Jahren wurden sowohl zum Verständnis des molekularen Pathomechanismus der Erkrankung als auch zu Diagnostik und Behandlung erhebliche Fortschritte erzielt. Die vorliegende Übersichtsarbeit stellt diese aktuellen Entwicklungen dar. Im ersten Abschnitt zeigen wir den Bedarf an psychiatrischer Diagnostik und Begleitung von Patienten mit TSC auf und behandeln Herausforderungen und Schwierigkeiten in der interdisziplinären Zusammenarbeit zwischen Kinder- und Jugendpsychiatrie, Neuropädiatrie und anderen Berufsgruppen. Im zweiten Teil stellen wir das Konzept der TSC-assoziierten neuropsychiatrischen Störungen (TAND) vor, das von einer internationalen Expertengruppe entwickelt wurde, um Kliniker, Familien und Betroffene in der Diagnostik und Behandlung psychiatrischer Symptome und Störungen zu unterstützen, sowie ein neuartiges Screeninginstrument (TAND-Checkliste). Schließlich geben wir einen Überblick über kürzlich publizierte Studien bezüglich möglicher Krankheitsmodifikation der neuropsychiatrischen Manifestationen mittels mTOR-Inhibitoren. Die deutsche Übersetzung der TAND-Checkliste ist dem Artikel als elektronisches Supplement (ESM) beigefügt.

Published
2024
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29. Perampanel as precision therapy in rare genetic epilepsies

Author

Nissenkorn, Andreea, primary, Kluger, Gerhard, additional, Schubert‐Bast, Susanne, additional, Bayat, Allan, additional, Bobylova, Marya, additional, Bonanni, Paolo, additional, Ceulemans, Berten, additional, Coppola, Antonietta, additional, Di Bonaventura, Carlo, additional, Feucht, Martha, additional, Fuchs, Anne, additional, Gröppel, Gudrun, additional, Heimer, Gali, additional, Herdt, Brigitte, additional, Kulikova, Sviatlana, additional, Mukhin, Konstantin, additional, Nicassio, Stefania, additional, Orsini, Alessandro, additional, Panagiotou, Maria, additional, Pringsheim, Milka, additional, Puest, Burkhard, additional, Pylaeva, Olga, additional, Ramantani, Georgia, additional, Tsekoura, Maria, additional, Ricciardelli, Paolo, additional, Lerman Sagie, Tally, additional, Stark, Brigit, additional, Striano, Pasquale, additional, van Baalen, Andreas, additional, De Wachter, Matthias, additional, Cerulli Irelli, Emanuele, additional, Cuccurullo, Claudia, additional, von Stülpnagel, Celina, additional, and Russo, Angelo, additional

Published
2023
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31. Author Correction:Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment (Scientific Reports, (2017), 7, 1, (8089), 10.1038/s41598-017-06145-8)

Author

Mills, James D., Iyer, Anand M., van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper J., Janssen, Bart, Zimmer, Till S., Spliet, Wim G., van Rijen, Peter C., Jansen, Floor E., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Kotulska, Katarzyna, Jozwiak, Sergiusz, Jansen, Anna, Lagae, Lieven, Curatolo, Paolo, Kwiatkowski, David J., Pasterkamp, R. Jeroen, Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F., Gorter, Jan A., Crino, Peter B., Mühlebner, Angelika, Scicluna, Brendon P., Aronica, Eleonora, Pathology, APH - Aging & Later Life, APH - Mental Health, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Center of Experimental and Molecular Medicine, AII - Infectious diseases, and AII - Inflammatory diseases

Abstract

This Article contains an error in the Acknowledgements section. “This work was supported by European Union’s Seventh Framework Programme (FP7/2007-2013) under the grant agreement no. 602391 (project acronym EPISTOP; A.I., J.v.S., A.M., E.A., F.I., K.K., S.K., A.J., L.L., P.C., D.K.); Epilepsiefonds (WAR 15-05; RJP); European Union’s Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement No 642881 (ECMED; A.E., J.G.). None of the authors has any conflict of interest to disclose. We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.” should read: “This work was supported by European Union’s Seventh Framework Programme (FP7/2007-2013) under the Grant Agreement no. 602391 (project acronym EPISTOP; A.I., J.v.S., A.M., E.A., F.I., K.K., S.J., A.J., L.L., P.C., D.K.) and partially supported by the Polish Ministerial funds for science (years 2013–2019) for the implementation of international co-financed project (K.K, S.J.); Epilepsiefonds (WAR 15-05; RJP); European Union’s Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement No 642881 (ECMED; A.E., J.G.). None of the authors has any conflict of interest to disclose. We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.”.

Published
2022

33. TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

Author

de Vries, Petrus J., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D’Amato, Lisa, d’Augères, Guillaume B., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Kingswood, J. Chris, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O’Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C., and on behalf of TOSCA Consortium and TOSCA Investigators

Published
2018
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41. 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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43. Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex

Author

EPISTOP Consortium, Hulshof, Hanna M, Kuijf, Hugo J, Kotulska, Katarzyna, Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Krsek, Pavel, Feucht, Martha, Nabbout, Rima, Lagae, Lieven, Jansen, Anna, Otte, Wim M, Lequin, Maarten H, Sijko, Kamil, Benvenuto, Arianna, Hertzberg, Christoph, Benova, Barbora, Scholl, Theresa, De Ridder, Jessie, Aronica, EleonoraM A, Kwiatkowski, David J, Jozwiak, Sergiusz, Jurkiewicz, Elzbieta, Braun, Kees, Jansen, Floor E, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Neuroprotection & Neuromodulation, Pathology, and ANS - Cellular & Molecular Mechanisms

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Epilepsy, Neuroscience(all), Infant, Magnetic Resonance Imaging, Settore MED/39, nervous system diseases, Seizures, Tuberous Sclerosis, Child, Preschool, Neurodevelopmental Outcomes, Tuberous Sclerosis Complex, Humans, Prospective Studies, Neurology (clinical), Pediatrics, Perinatology, and Child Health, Subsequent Epilepsy, Child, Children
Abstract

Background and ObjectivesMultiple factors have been found to contribute to the high risk of epilepsy in infants with tuberous sclerosis complex (TSC), including evolution of EEG abnormalities, TSC gene variant, and MRI characteristics. The aim of this prospective multicenter study was to identify early MRI biomarkers of epilepsy in infants with TSC aged MethodsWe evaluated brain MRIs performed in infants younger than 6 months with TSC. We used harmonized MRI protocols across centers and children were monitored closely with neuropsychological evaluation and serial video EEG. MRI characteristics, defined as tubers, radial migration lines, white matter abnormalities, cysts, calcifications, subependymal nodules (SEN), and subependymal giant cell astrocytoma (SEGA), were visually evaluated and lesions were detected semiautomatically. Lesion to brain volume ratios were calculated and associated with epilepsy and neurodevelopmental outcomes at 2 years.ResultsLesions were assessed on MRIs from 77 infants with TSC; 62 MRIs were sufficient for volume analysis. The presence of tubers and higher tuber-brain ratios were associated with the development of clinical seizures, independently of TSC gene variation and preventive treatment. Furthermore, higher tuber-brain ratios were associated with lower cognitive and motor development quotients at 2 years, independently of TSC gene variation and presence of epilepsy.DiscussionIn infants with TSC, there is a significant association between characteristic TSC lesions detected on early brain MRI and development of clinical seizures, as well as neurodevelopmental outcomes in the first 2 years of life. According to our results, early brain MRI findings may guide clinical care for young children with TSC.Classification of EvidenceThis study provides Class I evidence that in infants with TSC, there is a significant association between characteristic TSC lesions on early brain MRI and the development of clinical seizures and neurodevelopmental outcomes in the first 2 years of life.

Published
2022

45. Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

Author

Mills, James D., Iyer, Anand M., van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper J., Janssen, Bart, Zimmer, Till S., Spliet, Wim G., van Rijen, Peter C., Jansen, Floor E., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Kotulska, Katarzyna, Jozwiak, Sergiusz, Jansen, Anna, Lagae, Lieven, Curatolo, Paolo, Kwiatkowski, David J., Pasterkamp, R. Jeroen, Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F., Gorter, Jan A., Crino, Peter B., Mühlebner, Angelika, Scicluna, Brendon P., and Aronica, Eleonora

Published
2017
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47. How can we optimize the long-term outcome in children with intracranial cavernous malformations? A single-center experience of 61 cases

Author

Hirschmann, Dorian, primary, Czech, Thomas, additional, Roessler, Karl, additional, Krachsberger, Paul, additional, Paliwal, Shivam, additional, Ciobanu-Caraus, Olga, additional, Cho, Anna, additional, Peyrl, Andreas, additional, Feucht, Martha, additional, Frischer, Josa Maria, additional, and Dorfer, Christian, additional

Published
2022
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48. Poster

Author

Aleksic, Olivera, Pejovic-Milovancevic, Milica, Popovic-Deusic, Smiljka, Pirgic, Biljana, Sojic, Ivana, Correll, Christoph, Parikh, Umesh, Olshanskiy, Vladimir, Chopra, Bhrigu, Kane, John M., Malhotra, Anil K., Sieslack, Sonja, Barth, Gottfried Maria, Klosinski, Gunther, Sadigorsky, Sheila, Kronenberg, Sefi, Frisch, Amos, Williams, Nicola, Tonge, Bruce, King, Neville, Melvin, Glenn, Dudley, Amanda, Gordon, Michael, Klimkeit, Ester, Hatch, Simon, Breddy, John, DeCory, Heleen, Cameron, Sara, Solanto, Mary, Serra-Pinheiro, Maria, Sousa, Isabella, Mattos, Paulo, Gomes, Fernanda, Pastura, Giuseppe, Milinkovic, Desna, Bilke, Oliver, Kühnel, Sibille, Winterfeld, Bernhard, Campo, John, Perel, James, Axelson, David, Bridge, Jeff, Birmaher, Boris, Ryan, Neal, Brent, David, Sonuga-Barke, Edmund J. S., Sanchez, Dorothea Y., Pavuluri, Mani, Henry, David B., Carbray, Julie A., Sampson, Gwendolyn, Naylor, Michael W., Janicak, Philip G., Gebhardt, Stefan, Theisen, Frank, Haberhausen, Michael, Heinzel-Gutenbrunner, Monika, Wehmeier, Peter, Krieg, Jürgen-Christian, Kühnau, Wolfgang, Schmidtke, Jörg, Remschmidt, Helmut, Hebebrand, Johannes, Clement, Hans-Willi, Fleischhaker, Christian, Hennighausen, Klaus, Schulz, Eberhard, Frank, Reiner, Karamete, Belda, Löndahl, Gunnel, Gustafsson, Peik, Parnegdrd, Anneli, Rigon, Giancarlo, Chiodo, Simona, Mancaruso, Alessandra, Poggioli, Daniele Giovanni, Costa, Stefano, Pires, Pedro, Brito, Isabel, Carvalho, Isabel, Almeida, Sara, Zaragoza, Paula, Shevchenko, Yury, Korneeva, Vasilisa, Stankovic, Miodrag, Lakic, Aneta, Milovanovic, Vesna, Stankovic, Sandra, Hobrücker, Bernard, Caby, Filip, Chambry, Jean, Laudrin, Stéphane, Graindorge, Catherine, Oiji, Arata, Morioka, Yukiko, Murata, Ami, Sato, Madoka, Hashizume, Yume, Müller, Katarina, Werner, Willigis, Martin, Matthias, Mattejat, Eva, Olivieri, Myriam, Simoncini, Annalisa, Marchegiani, Sonia, Muratori, Marco Lazzorotto, Borsetti, Gabriele, Farrag, Shewikar, Coltrinari, Riccardo, Habib, Doa, Fung, Daniel, Lee, Nelson, Ohmann, Susanne, Popow, C., Lanzenberger, M., Herzog, H., Schuch, S., Miksch, S., Abdollahy, Fatemeh, Khani, S., Shabankhani, B., Guerra, Joao, Fontes, Claudia, Martins, Vania, Teles, Ana, Rodrigues, Corina, Correia, Zulmira, Becht-Jördens, Gereon, McElearney, Catherine, Marsh, Michael Fitzgerald Henry, Naumann, Alexander, Holst, Dirk, Engbarth, Annette, Mircea, Tiberiu, Nehra, Ashima, Malhotra, Savita, Chakrabarti, Subho, Kiran, Shashi, Shoba, Srinath, Hvolby, Allan, Jorgensen, Jan Ib, Medeiros, Marco, Correia, Ariete, Gabilondo, Maria, da Silva, Pedro Caldeira, Carreira, Augusto, Yang, Jae-Won, Kim, Yeoung-Rang, Hong, Sung-Do David, Lee, Sang-Sin, Lim, Seong-Hu, Park, Jeoung-Hwan, Trbic, Vera, Boskovic, Danica, Pauschardt, Jan, Mattejat, Fritz, Quaschner, Kurt, Lischka, Erika, Bauer, Mechthild, Petzke, Franka, Wehrmann, Britta, Lesinskiene, Sigita, Paskauskaite, Laura, Bueno, Luisa Garcia-Giralda, Gonzales, Juana Montiel, Cumbres, Javier Gallego, Asensio, Francisco Gutierrez, Denoix, Susanne, Kimmig, Franz, Weinhardt, Marc, Greven, Peter, Buchmann, Stefan, Atas, Nurgül, Jonkanski, Ute, Pisarsky, Bodo, Treuter, Silvia, Cornellà, Josep, Llusent, Alex, Condesso, Lara, Trigueiros, António, Schütz, Klaus, Tarren-Sweeney, Michael, Hazell, Philip, Mazzone, Luigi, Mugno, Diego, Ruta, Liliana, D’Arrigo, Valentina Genitori, Simona, Perrotta Concetta, Mattina, Teresa, Mazzone, Domenico, Nordbeck, Ralf, Gierow, Wolfgang, Haessler, Frank, Buchmann, Johannes, Bliznakova, Lucia, Grimmer, Yvonne, Roth, H. J., Jennen-Steinmetz, Christine, Schmidt, Martin H., Becker, Katja, Ludolph, Andrea G., Storch, Alexander, Boeckers, Tobias, Kirsch, Joachim, Fegert, Jörg M., Drevitska, Oksana, Cianchetti, Carlo, Corona, Simona, Foscoliano, Maria, Contu, Daniela, Fancello, Giuseppina Sannio, Costa, Anna, Roello, Mara, Romano, Angela, Fabrizi, Anna, Pelliccia, Andrea, Matricardi, Maria, Matthias, Nickola, Lesnick, Timo, Gass, Matthias, Su, Linyan, Zhang, Jishui, Wu, Dazing, Luo, Xuerong, Ardizzone, Ignazio, D’Oto, Paola, Priskich, Francesca, Rigillo, Elvira, Tomassetti, Nadia, Vagnoni, Francesca, Sabisch, Beate, Hahne, Anja, Glass, Lisa, Friederici, Angela D., von Suchodoletz, Waldemar, Di Brina, Carlo, Pagnacco, Andrea, Capozzi, Flavia, Penge, Roberta, Bocci, Fabio, Cantonetti, Laura, De Carlo, Alessandra, Scanferla, Barbara, Sebastiani, Teresa, Vagnoni, Cristina, Gao, Xueping, Du, Yasong, Lorenzetti, Fabio, von Aster, Michael, Schweiter, Martin, Kucian, Karin, Loenneker, Thomas, Dietrich, Thomas, Martin-Fiori, Ernst, Abuhegaz, Hesham, Bahary, Hashem, Lee, Dae-Hwan, Kim, Bong-Seog, Jeon, Seong-Ill, Chung, Sun-Lu, da Simoes, Maria Conceicao Taborda, da Dias, Maria Luz Vale, Engqvist, Ulf, Rydelius, Per-Anders, das Formosinho, Maria Dores, Pinto, Ana Monica, Lima, Luiza Nobre, Edbom, Tobias, Larsson, Jan-Olov, Lichtenstein, Paul, Perez, Bernardo, Marin, Macarena, Yang, Su-Jin, Lee, Helen, Noh, Kyung-Sun, Keller, Ferdinand, Goldbeck, Lutz, Benjelloun, Ghizlane, Dhossche, Dirk, Stanfill, Sara, Takahara, Akiko, Kusu, Minemitsu, Watanabe, Sumiko, Matsui, Tatsuya, Ikeda, Kengo, Matsuda, Hiroe, Allik, Hiie, Smedje, Hans, Shirataki, Sadaaki, Murakami, Bonko, Mohamed, Rawheya Ahmad, Dunbar, Fiona, Shea, Sarah, Atsumi, Mariko, Matsumoto, Hideo, Ooya, Akitoshi, Koishi, Seiji, Aoki, Yutaka, Enseki, Youichi, Nakamura, Yuri, Francis, Kostas, Kazaridis, Vassilis, Kirillidou, Panagiota, Koukouvinou, Sofia, Paliwal, Sobharani, Clinic, Parkview, Whitehouse, William, Edwards, Margo, Edwards, Ayliffe, Pandit, Sunita, Powell, Judith, Tehrani-Doost, Mehdi, Sepasi, Mitra, Alaghband-Rad, Javad, Goodarzi, Reza Rad, Kodaira, Masaki, Viertler, Andrea, Elpel, Katja, Reis, Olaf, Akçakn, Melda Ayse, Erden, Gulsen, Kerimoglu, Efser, Lemonnier, Eric, Munesue, Toshio, Mutoh, Kouhei, Shimoda, Kazunori, Nakatani, Hideo, Koshino, Yoshifumi, Germerott, Isabell, Sadek, Eman Galal, Litvinov, A. G., Calderón-Castaneda, Froylan, Nuno-Licona, Alberto Enrique, Alatorre-Miguel, Efren, Goth, Kirstin, Schmeck, Klaus, Winter, Sibylle, Wiegard, Anja, Hinrichs, Günter, Köhler, Denis, Kammerer, Martin, Adams, Diana, von Castelberg, Brida, Taylor, Alyx, Posserud, Maj-Britt, Stormark, Kjell Morten, Lundervold, Astri J., Gillberg, Christopher, Steijnen, Maaike, Verhoeven, Sophie, Francula, Ivana, Prpic, Igor, Volga, Rena, Di Biasi, Stefania, Piperno, Francesca, Puleo, Filomena, Cerracchio, Sara, Giacchè, Roberta, Rein, Zoé, Godart, Nathalie, Perdereau, Fabienne, Curt, Florence, Jeammet, Philippe, Fermanian, Jacques, Bayman, Emine Ozgur, Taneli, Yesim, Guvendeger, Neslim, Ediz, Bulent, Taneli, Suna, Kan, Ismet, Plaß, Angela, Barkmann, Claus, Mack, B., Mittenzwei, K., Riedesser, Peter, Schulte-Markwort, Michael, Roessner, Veit, Becker, Andreas, Hagenberg, Nicola, Berking, Matthias, Banaschewski, Tobias, Rothenberger, Aribert, Coulon, Nathalie, Tardiola, Daniela, Balsamo, Stefano, Capriotti, Nadia, Sandhu, Tanveer, Tamminen, Tuula, Iovchuk, Nina, Milacic, Ivona, Vidojevic, Oliver, Kilincaslan, Ayse, Mukaddes, Nahit Motavalli, Sozen, Gokce, Umut, Ayla, Yamamoto, Kenji, Koishi, Shinko, Natsume, Noriko, Yamazaki, Kosuke, Nanba, Eiji, Naber, Fabienne, van Daalen, Emma, Buitelaar, Jan, van IJzendoorn, Marinus, Willemsen-Swinkels, Sophie, BakermansKranenburg, Marian J., van Engeland, Herman, de Jonge, Maretha, Kemner, Chantal, Caby, Andrea, Bendt, Stefan, Bashina, Vera, Krasnoperova, Maria, Croonenberghs, Jan, Sliwinski, Sonja, Christophe, Armand, Deboutte, Dirk, Maes, Michael, Tosco, Alessia, Giorgi, Emanuela, Lazzarini, Monica, Iorio, M. Liliana, Becciu, Mercedes, Kim, Bung-Nyun, In-Hyoung, Jeong, Ahn, Dong-Hyun, Kim, Boong-Nyun, Shin, Yun-O, Hong, Kang-E, Hrdlicka, Michal, Neuwirth, Jiri, Komarek, Vladimir, Havlovicova, Marketa, Sedlacek, Zdenek, Blatny, Marek, Urbanek, Tomas, Ohta, Masataka, Kano, Yukiko, Nagai, Yoko, Wintgens, Anne, Hayez, Jean-Yves, Lim, Seoung-Hu, Ha, Ji-Hye, Byun, Hee-Jung, Kim, Ji-Hae, Lee, Rebecca, Fombonne, Eric, Taylor, Eric, Çetin, Füsun Çuhadaroôlu, James, Deborah, Lawlor, Maria, Sofroniou, Nick, Kamibeppu, Kiyoko, Sato, Lori, Hoshi, Yasutaka, Zdravkovic, Jezdimir, Kostic, Petar, Murafi, Khalid, Ries, Michael, Siefen, Rainer Georg, Jelinek, Martin, Klimusova, Helena, Blizkovska, Jaroslava, Burke, C., Doody, B., Nix, Carole Müller, Nicole, Ayala, Wilken, Markus, Dunitz-Scheer, Marguerite, Krasnovsky, Alexandra, Dressler, Anastasia, Perelli, Valentina, Tinelli, Francesca, Rafanelli, Valentina, Bargagna, Stefania, Libal, Gerhard, Plener, Paul, Fegert, Jórg M., Enokido, Fumiko, Higuchi, Masako, Jibiki, Istuki, Tomori, Martina, Yoo, Hee-Jeong, Kim, Su-Yeon, Cho, In-Hee, Yune, Sook-Kyeong, Lyoo, In-Kyoon, Ha, Ji-Hyun, Haas, Barbara, Danilova, Lyudmila, Dervic, Kanita, Csorba, Janos, Rozsa, Sandor, Kleinman, Marjorie, Tringer, Laszlo, Friedrich, Max, Gould, Madelyn, Akkaya-Kalayci, Tuerkan, Lenz, Gerhard, Lapponi, Elisa, Filipponi, Maria Carla, Lauria, Felicia, Sogos, Carla, Kitamura, Akihide, Albrecht, Bjoern, Zhang, Xianghui, Li, Xuerong, Hercigonja-Novkovim, Vesna, Kocijan-Hercigonja, Dubravka, Ralston, Stephen, Lorenzo, Maria, Aziz, Asmaa Amin Abdel, Biederman, Joseph, Spencer, Thomas, Moore, Rodney, Gao, Haitao, Cornelld, Josep, Dajcman, Natasa Potocnik, Holnthaner, Rok, Xie, Guangrong, Sühlfleisch-Thurau, Ulrike, Häßler, Frank, Tiffin-Richards, Margaret, Richards, Michael, Hasselhorn, Marcus, Bayrak, Alper, Pereira, R. Rodrigues, Brussel, W., Vlasveld, L., Tuynman-Qua, H. G., Lorenzo, M. 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Ben, Kotler, Moshe, Hegesh, Roni, Coghill, David, Spender, Quentin, Barton, Joanne, Hollis, Chris, Yuen, Cammy, Cleemput, Irina, Annemens, Lieven, Eschmann, Susanne, Käppler, Karl Christoph, Teodoro, Maycoln M. L., Stieger, Eva, Mugier, Anouk, Stüttler, Stephanie, Heise, Cord Alexander, Uebel, Henrik, Hanisch, Charlotte, Konrad, Kerstin, Radach, Ralph, Horn, Dagmar, Tsujii, Noa, Okada, Akira, Kuriki, Noriko, Matsuo, Junko, Hanada, Kazushi, Kusube, Takeshi, Hitomi, Kazuhiko, Schmitz, Marcelo, Denardin, Daniel, da Silva, Tatiana, Pianca, Thiago, Roman, Tatiana, Hutz, Mara, Bouden, Asma, Dengezli, Ines, Halayem, Mohamed, Herreros, Oscar, Sanchez, Francisco, Rubio, Belen, Gracia, Ramon, Weber, Simone Henrike, Wolters, Alex, Allen, Albert J., Kurlan, Roger, Gilbert, Donald, Dunn, David, Sallee, F. Randy, Thomason, Christine, Sutton, Virginia, Milton, Denai, Petersen, Dorthe, Kristensen, Solvejg, Kinkelbur, Jörg, Hellwig, Juliane, Hellwig, Martin, Rüther, Eckert, Omigbodun, Olayinka, Esan, O., Bakare, K., Yusufi, B. O., Nuhu, F., Adesokan, A., Kopecky-Wenzel, Marie, Steenhuis, Mark-Peter, Minderaa, Ruud, Körlof, Marie-Louise, Wängby, Margit, Bergman, Lars R., Yu, Suwei, Multimäki, Petteri, Parkkola, Kai, Sourander, Andre, Nikolakaros, Georgios, Helenius, Hans, Freitas, Carina, Rocha, Assunçâo, Pocinho, Lídia, Arai, Shinichi, Ichikawa, Hironobu, Hirosawa, Ikuko, Mdrquez-Caraveo, Maria Elena, Pérez-Barrón, Verónica, Sorensen, Merete Juul, Mors, Ole, Thomsen, Per Hove, von Klitzing, Kai, Perren, Sonja, von Wyl, Agnes, Burgin, Dieter, Yoo, Han-Ik, Shin, Min-Sup, Hong, Kang E., Syed, Ehsan, Haqqi, Sobia, Semago, Michail, Girdzijauskiene, Sigita, Puras, Dainius, Gintiliene, Grazina, Cerniauskaite, Dovile, Bormann-Kischkel, Christiane, Schmoetzer, Rosemarie, Frischholz, Diana, Linder, Martin, Ganseforth, Catharina, Rödder, Daniela, Kribs, Angela, Pillekamp, Frank, von Gontard, Alexander, Roth, Bernhard, Wiguna, Tjhin, Marques, Cristina Maria Ribeiro, Goldschmidt, Teresa, Cepeda, Teresa, Arman, Ayse, Ersu, Refika, Save, Dilsad, Karaman, Goksin, Karabekiroglu, Koray, Karadag, Bulent, Berkem, Meral, Moller, Lene Ruge, Biswas, Parathasarathy, Malhotra, Anil, Gupta, Nitin, Ivarsson, Tord, Litlere, Oeystein, Svalander, Per, Yelikova, Yelena, Nastasic, Petar, Filipovic, Snezana, Panoski, Roza, Lazetic, Goran, Zvereva, Nataliya, Strauss, Monika, Graf, A., Zollinger, R., Brückl, Tanja, Höfler, Michael, Schwenden, Lena, Wittchen, Hans-Ulrich, Lieb, Roselind, Schweitzer, Angelika, Edwards, Jane, Schlögelhofer, Monika, Amminger, Paul G., Ledda, Maria Giuseppina, Zuddas, A., Piroddi, T., Abis, M., Mereu, A., Härtling, Fabian, Tepest, Ralf, Goncharova, Tanja, Linden, David E. 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Friedrich, Petrovic, Macesic, Nesa, Monique, Hay, David, Roberts, Clare, McCoy, Mairead, Salbach, Harriet, Klopfer, Uta, Hagen, Swantje, Arne, Bürger, Lehmkuhl, Ulrike, Smith, Bradley, Sinzig, Judith, Hohmann, Martin, Mukai, Takayo, Enebrink, Pia, Ldngström, Niklas, Andershed, Henrik, Richer, Louis, Lachance, Lise, Dubé, Claude, Saintonge, Serge, Virkkunen, Matti, Liesivuori, Jyrki, Bloigu, Risto, Tiihonen, Jari, Vance, Alasdair, Prakash, Chidambaram, Reyes-Harde, Magali, Csaba, Krisztina, Eerdekens, Marielle, Olah, Roza, Augustyns, Ilse, Hellmann, Ulrike, Matei, Astrid, Ha, Ji Hyun, Cho, In Hee, Kim, Mee Gyeong, Yune, Sook Kyeong, Lyoo, In Kyoon, Barbro, Bruce, Polanczyk, Guilherme, Iraqi, Zineb, Kadri, Nadia, Moussaoui, Driss, Raddaoui, Kamal, Titze, Karl, Wollenweber, Susanne, Nell, Verena, Wiefel, Andreas, Guex, Margarita Forcada, Sezer, Basaran, Shamsaei, Farshid, Cheraghi, Fatemeh, Hasturk, Oytun, Okan, Mehmet, Sato, Naoko, Sato, Aya, Camillo, Eleonora, Porcari, Viviana, Salatiello, Maria Patrizia, Chifari, Sabrina, Dell’Oglio, Valentina, Rosanna, Militello, Scrò, Carmela, Hart-Kerkhoffs, Lisette, Ph. van Wijk, A., Jansen, L. 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C., Vermeiren, Robert, Doreleijers, Theodore, Zhang, Shi Ji, Latva, Reija, Lehtonen, Liisa, Salmelin, Raili, Tsalamanios, Emmanouel, Kolaitis, Gerasimos, Paliokosta, Elena, Diareine, Stauroula, Anasontzi, Sofia, Tsiantis, Alkis, Limbinaki, Irini, Tsiantis, John, Dreana-Ianciu, Leontina, Vrajitoriu, Miriana, Lebedeva, Laura, Taner, Yasemen, Bakkaloglu, Betul, Çetin, Füsun Çuhadaroâlu, Ozbesler, Cengiz, Erturk, Mihriban, Sebre, Sandra, Keller, Audrey, Borghini, Ayala, Pierrehumbert, Blaise, Ansermet, François, Furnham, Adrian, Noack, Peter, Kirkcaldy, Bruce, Felber, Michaela, Puig, Stefan, Swain, James, Leckman, James, Mayes, Linda, Feldman, Ruth, Constable, Robert, Schultz, Robert, Koren, Evgeny, Trangkasombat, Umaporn, Karle, Michael, Belianchikova, Marina, Scoblo, Galina, Fadeev, Valentin, Jaunin, Lyne, Ansermet, Francois, Ujiie, Tatsuo, Nomura, Kenji, Sasaki, Yasuko, Stancheva-Popkostadinova, Vaska, Achkova, Meglena, Kilic, Emine, Erdogan, Gönül, Gaber, Rami, Qasqas, Areej, Aßhauer, Martin, Adam, Hubertus, Jones, Lynne, Rachidi, Linda, Halty, Kawtar, Battas, Omar, Leor, Agnes, Tyano, Shmuel, Shreiber, Schaul, Hosogane, Nan, Watanabe, Kyoto, Okuyama, Makiko, Kim, Young-Shin, Leventhal, Bennett, Koh, Yun-Joo, Boyce, W. 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Published
2004
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49. Additional file 2 of Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period

Author

Korotkov, Anatoly, Luinenburg, Mark J., Romagnolo, Alessia, Zimmer, Till S., van Scheppingen, Jackelien, Bongaarts, Anika, Broekaart, Diede W. M., Anink, Jasper J., Mijnsbergen, Caroline, Jansen, Floor E., van Hecke, Wim, Spliet, Wim G., van Rijen, Peter C., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Crino, Peter B., Kotulska, Katarzyna, Lagae, Lieven, Jansen, Anna C., Kwiatkowski, David J., Jozwiak, Sergiusz, Curatolo, Paolo, M��hlebner, Angelika, van Vliet, Erwin A., Mills, James D., and Aronica, Eleonora

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Data_FILES
Abstract

Additional file 2.

Published
2022
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