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Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study
Author / Creator:French, Jacqueline A, Dr Prof ; Lawson, John A, MD ; Yapici, Zuhal, Prof ; Ikeda, Hiroko, MD ; Polster, Tilman, MD ; Nabbout, Rima, PhD ; Curatolo, Paolo, Prof ; de Vries, Petrus J, Prof ; Dlugos, Dennis J, MD ; Berkowitz, Noah, PhD ; Voi, Maurizio, MD ; Peyrard, Severine, MS ; Pelov, Diana, MS ; Franz, David N, Prof
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2016-10, Vol.388 (10056), p.2153-2163
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DNA methylation-based classification of malformations of cortical development in the human brain
Author / Creator: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 ; Blümcke, Ingmar
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2022-01, Vol.143 (1), p.93-104
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Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay
Author / Creator: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 ; von Deimling, Andreas
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2020-12, Vol.140 (6), p.881-891
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Timing of antiepileptic drug withdrawal and long-term seizure outcome after paediatric epilepsy surgery (TimeToStop): a retrospective observational study
Author / Creator:Boshuisen, Kim, MD ; Arzimanoglou, Alexis, MD ; Cross, J Helen, Prof ; Uiterwaal, Cuno SPM, MD ; Polster, Tilman, MD ; van Nieuwenhuizen, Onno, Prof ; Braun, Kees PJ, Prof
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2012-09, Vol.11 (9), p.784-791
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Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany
Author / Creator:Maltseva, Margarita ; Schubert-Bast, Susanne ; Zöllner, Johann Philipp ; Bast, Thomas ; Mayer, Thomas ; von Spiczak, Sarah ; Ruf, Susanne ; Trollmann, Regina ; Wolff, Markus ; Hornemann, Frauke ; Klotz, Kerstin A ; Jacobs, Julia ; Kurlemann, Gerhard ; Neubauer, Bernd A ; Polster, Tilman ; Syrbe, Steffen ; Bertsche, Astrid ; Bettendorf, Ulrich ; Kluger, Gerhard ; Flege, Silke ; Rosenow, Felix ; Kay, Lara ; Strzelczyk, Adam
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.98-98, Article 98
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An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine European Early Acce...
Author / Creator:Guerrini, Renzo ; Specchio, Nicola ; Aledo‐Serrano, Ángel ; Pringsheim, Milka ; Darra, Francesca ; Mayer, Thomas ; Gil‐Nagel, Antonio ; Polster, Tilman ; Zuberi, Sameer M. ; Lothe, Amélie ; Gammaitoni, Arnold ; Strzelczyk, Adam
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2022-12, Vol.7 (4), p.578-587
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Exploring the relationships between composite scores of disease severity, seizure-freedom and quality of life in Dravet syndrome
Author / Creator:Strzelczyk, Adam ; Kurlemann, Gerhard ; Bast, Thomas ; Bettendorf, Ulrich ; Kluger, Gerhard ; Mayer, Thomas ; Neubauer, Bernd A ; Polster, Tilman ; von Spiczak, Sarah ; Trollmann, Regina ; Wolff, Markus ; Toward, Toby ; Gruenert, Jens ; Gibson, Eddie ; Pritchard, Clive ; Carroll, Joe ; Rosenow, Felix ; Schubert-Bast, Susanne
Publisher:England: Springer Nature B.V
Journal title:Neurological research and practice, 2022-06, Vol.4 (1), p.22-22, Article 22
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Genetic generalized epilepsies with frontal lesions mimicking migratory disorders on the epilepsy monitoring unit
Author / Creator:Fauser, Susanne ; Cloppenborg, Thomas ; Polster, Tilman ; Specht, Ulrich ; Woermann, Friedrich G. ; Bien, Christian G.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2020-06, Vol.5 (2), p.176-189
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Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
Author / Creator:Krenn, Martin ; Knaus, Alexej ; Westphal, Dominik S. ; Wortmann, Saskia B. ; Polster, Tilman ; Woermann, Friedrich G. ; Karenfort, Michael ; Mayatepek, Ertan ; Meitinger, Thomas ; Wagner, Matias ; Distelmaier, Felix
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-05, Vol.6 (5), p.968-973
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Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial
Author / Creator:Lagae, Lieven ; Sullivan, Joseph ; Knupp, Kelly ; Laux, Linda ; Polster, Tilman ; Nikanorova, Marina ; Devinsky, Orrin ; Cross, J Helen ; Guerrini, Renzo ; Talwar, Dinesh ; Miller, Ian ; Farfel, Gail ; Galer, Bradley S ; Gammaitoni, Arnold ; Mistry, Arun ; Morrison, Glenn ; Lock, Michael ; Agarwal, Anupam ; Lai, Wyman W ; Ceulemans, Berten
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2019-12, Vol.394 (10216), p.2243-2254
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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
Author / Creator:Herbst, Charlotte ; Bothe, Viktoria ; Wegler, Meret ; Axer-Schaefer, Susanne ; Audebert-Bellanger, Séverine ; Gecz, Jozef ; Cogne, Benjamin ; Feldman, Hagit Baris ; Horn, Anselm H. C. ; Hurst, Anna C. E. ; Kelly, Melissa A. ; Kruer, Michael C. ; Kurolap, Alina ; Laquerriere, Annie ; Li, Megan ; Mark, Paul R. ; Morawski, Markus ; Nizon, Mathilde ; Pastinen, Tomi ; Polster, Tilman ; Saugier-Veber, Pascale ; SeSong, Jang ; Sticht, Heinrich ; Stieler, Jens T. ; Thifffault, Isabelle ; van Eyk, Clare L. ; Marcorelles, Pascale ; Vezain-Mouchard, Myriam ; Abou Jamra, Rami ; Oppermann, Henry
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2024-03, Vol.143 (3), p.455-469
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Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome
Author / Creator:McDonell, Laura M ; Mirzaa, Ghayda M ; Alcantara, Diana ; Schwartzentruber, Jeremy ; Carter, Melissa T ; Lee, Leo J ; Clericuzio, Carol L ; Graham, John M ; Morris-Rosendahl, Deborah J ; Polster, Tilman ; Acsadi, Gyula ; Townshend, Sharron ; Williams, Simon ; Halbert, Anne ; Isidor, Bertrand ; David, Albert ; Smyser, Christopher D ; Paciorkowski, Alex R ; Willing, Marcia ; Woulfe, John ; Das, Soma ; Beaulieu, Chandree L ; Marcadier, Janet ; Geraghty, Michael T ; Frey, Brendan J ; Majewski, Jacek ; Bulman, Dennis E ; Dobyns, William B ; O'Driscoll, Mark ; Boycott, Kym M
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-05, Vol.45 (5), p.556-562
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Trends in epilepsy surgery: stable surgical numbers despite increasing presurgical volumes
Author / Creator:Cloppenborg, Thomas ; May, Theodor W ; Blümcke, Ingmar ; Grewe, Philip ; Hopf, Lena J ; Kalbhenn, Thilo ; Pfäfflin, Margarete ; Polster, Tilman ; Schulz, Reinhard ; Woermann, Friedrich G ; Bien, Christian G
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2016-12, Vol.87 (12), p.1322-1329
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Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis complex (TSC): evidence from layer-specific marker expression
Author / Creator:Mühlebner, Angelika ; Iyer, Anand M. ; van Scheppingen, Jackelien ; Anink, Jasper J. ; Jansen, Floor E. ; Veersema, Tim J. ; Braun, Kees P. ; Spliet, Wim G. M. ; van Hecke, Wim ; Söylemezoğlu, Figen ; Feucht, Martha ; Krsek, Pavel ; Zamecnik, Josef ; Bien, Christian G. ; Polster, Tilman ; Coras, Roland ; Blümcke, Ingmar ; Aronica, Eleonora
Publisher:London: BioMed Central
Journal title:Journal of neurodevelopmental disorders, 2016-04, Vol.8 (1), Article 9
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Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression
Author / Creator:Mühlebner, Angelika ; Iyer, Anand M ; van Scheppingen, Jackelien ; Anink, Jasper J ; Jansen, Floor E ; Veersema, Tim J ; Braun, Kees P ; Spliet, Wim G M ; van Hecke, Wim ; Söylemezoğlu, Figen ; Feucht, Martha ; Krsek, Pavel ; Zamecnik, Josef ; Bien, Christian G ; Polster, Tilman ; Coras, Roland ; Blümcke, Ingmar ; Aronica, Eleonora
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2016-04, Vol.8 (9), p.9-9
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Fenfluramin: serotoninerge Therapie bei Epilepsien von Kindern und Jugendlichen
Author / Creator:Stephani, Ulrich ; Lehmann, Irene ; von Spiczak, Sarah ; Polster, Tilman ; Muhle, Hiltrud
Publisher:Heidelberg: Springer Nature B.V
Journal title:Clinical Epileptology, 2019-11, Vol.32 (4), p.298-302
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Klinische Charakteristika, Ressourcenverbrauch, Lebensqualität und Versorgungssituation beim Dravet-Syndrom in Deutschland
Author / Creator:Kalski, Malin ; Schubert-Bast, Susanne ; Kieslich, Matthias ; Leyer, Anne‑Christine ; Polster, Tilman ; Herting, Arne ; Mayer, Thomas ; Trollmann, Regina ; Neubauer, Bernd A ; Bettendorf, Ulrich ; Bast, Thomas ; Wiemer-Kruel, Adelheid ; von Spiczak, Sarah ; Kurlemann, Gerhard ; Wolff, Markus ; Kluger, Gerhard ; Carroll, Joe ; Macdonald, Daniel ; Pritchard, Clive ; Irwin, John ; Klein, Karl Martin ; Rosenow, Felix ; Strzelczyk, Adam ; Kay, Lara
Publisher:Heidelberg: Springer Nature B.V
Journal title:Clinical Epileptology, 2019-11, Vol.32 (4), p.326-338
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Thermoablation bei nodulären Heterotopien
Author / Creator:Polster, Tilman ; Schulz, Reinhard ; Woermann, Friedrich G ; Bernhard, Matthias K ; Schmitt, Friedhelm C ; Büntjen, Lars ; Voges, Jürgen
Publisher:Heidelberg: Springer Nature B.V
Journal title:Clinical Epileptology, 2017-05, Vol.30 (2), p.122-128
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Biophysical characterization and modeling of SCN1A gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticity
Author / Creator:Berecki, Geza ; Bryson, Alexander ; Polster, Tilman ; Petrou, Steven
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2023-02
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Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders
Author / Creator:Buttner, Benjamin ; Martin, Sonja ; Finck, Anja ; Arelin, Maria ; Baade-Buttner, Carolin ; Bartolomaeus, Tobias ; Bauer, Peter ; Bertsche, Astrid ; Bernhard, Matthias K ; Biskup, Saskia ; Nataliya Di Donato ; Elgizouli, Magdeldin ; Ewald, Roland ; Heine, Constanze ; Hellenbroich, Yorck ; Hentschel, Julia ; Hoffjan, Sabine ; Horn, Susanne ; Hornemann, Frauke ; Huhle, Dagmar ; Kamphausen, Susanne B ; Kiess, Wieland ; Krey, Ilona ; Kuechler, Alma ; Liesfeld, Ben ; Merkenschlager, Andreas ; Mitter, Diana ; Muschke, Petra ; Pfaffle, Roland ; Polster, Tilman ; Schanze, Ina ; Jan-Ulrich Schlump ; Syrbe, Steffen ; Wieczorek, Dagmar ; Zenker, Martin ; Lemke, Johannes R ; Diana Le Duc ; Platzer, Konrad ; Rami Abou Jamra
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2019-03
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Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study

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DNA methylation-based classification of malformations of cortical development in the human brain

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

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Timing of antiepileptic drug withdrawal and long-term seizure outcome after paediatric epilepsy surgery (TimeToStop): a retrospective observational study

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Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany

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An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine European Early Acce...

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Exploring the relationships between composite scores of disease severity, seizure-freedom and quality of life in Dravet syndrome

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Genetic generalized epilepsies with frontal lesions mimicking migratory disorders on the epilepsy monitoring unit

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Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

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Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial

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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

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Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

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Trends in epilepsy surgery: stable surgical numbers despite increasing presurgical volumes

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Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis complex (TSC): evidence from layer-specific marker expression

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Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression

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Fenfluramin: serotoninerge Therapie bei Epilepsien von Kindern und Jugendlichen

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Klinische Charakteristika, Ressourcenverbrauch, Lebensqualität und Versorgungssituation beim Dravet-Syndrom in Deutschland

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Thermoablation bei nodulären Heterotopien

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Biophysical characterization and modeling of SCN1A gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticity

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Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

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