Zobrazeno 1 - 10
of 220
pro vyhledávání: '"Thomas Bast"'
Autor:
Johanna Umlauf, Alexander Rau, Theo Demerath, Thomas Bast, Jan Schönberger, Horst Urbach, Julia Jacobs, Kerstin A. Klotz
Publikováno v:
Epilepsia Open, Vol 8, Iss 4, Pp 1581-1587 (2023)
Abstract Brain atrophy associated with valproate therapy is known from single case reports and is frequently accompanied by cognitive deterioration. We present a case series of incidental findings of brain volume loss in children treated with valproa
Externí odkaz:
https://doaj.org/article/b8095367e88d4bd3b4e2e8ed3836448e
Autor:
Fabienne Kühne, Lena‐Luise Becker, Thomas Bast, Astrid Bertsche, Ingo Borggraefe, Christian Malte Boßelmann, Jörg Fahrbach, Christoph Hertzberg, Nina A. Herz, Martin Hirsch, Martin Holtkamp, Christine Janello, Gerhard Josef Kluger, Gerhard Kurlemann, Holger Lerche, Konstantin L. Makridis, Felix vonPodewils, Milka Pringsheim, Susanne Schubert‐Bast, Juliane Schulz, Andreas Schulze‐Bonhage, David Steinbart, Bernhard J. Steinhoff, Adam Strzelczyk, Steffen Syrbe, Heike De Vries, Christiane Wagner, Johanna Wagner, Bernd Wilken, Christine Prager, Kerstin A. Klotz, Angela M. Kaindl
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 360-370 (2023)
Abstract Objective Cannabidiol (CBD) is approved for treatment of Dravet syndrome (DS), Lennox‐Gastaut syndrome (LGS), and tuberous sclerosis complex (TSC). Several studies suggest antiseizure effects also beyond these three epilepsy syndromes. Met
Externí odkaz:
https://doaj.org/article/852156134b764262ae16db8390951ec2
Autor:
Margarita Maltseva, Susanne Schubert-Bast, Johann Philipp Zöllner, Thomas Bast, Thomas Mayer, Sarah von Spiczak, Susanne Ruf, Regina Trollmann, Markus Wolff, Frauke Hornemann, Kerstin A. Klotz, Julia Jacobs, Gerhard Kurlemann, Bernd A. Neubauer, Tilman Polster, Steffen Syrbe, Astrid Bertsche, Ulrich Bettendorf, Gerhard Kluger, Silke Flege, Felix Rosenow, Lara Kay, Adam Strzelczyk
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)
Abstract Background This study measured sleep quality among caregivers of patients with Dravet syndrome (DS) and assessed the impacts of mental health problems and caregiver burden on sleep quality. Methods This multicenter, cross-sectional study of
Externí odkaz:
https://doaj.org/article/825ddba58c014a71a7878d0972bc38f4
Autor:
Thomas Bast, Anne‐Liv Schulz, Florin Floricel, Diego Morita, Jody M. Cleveland, Jan‐Peer Elshoff
Publikováno v:
Epilepsia Open, Vol 7, Iss 4, Pp 588-597 (2022)
Abstract Objective Despite introduction of several antiseizure medications over the past two decades, treatment options for childhood absence epilepsy (CAE) and juvenile absence epilepsy (JAE) remain limited. We report the innovative adaptive design
Externí odkaz:
https://doaj.org/article/7812ba6767774e938183b18d35f90001
Autor:
Adam Strzelczyk, Gerhard Kurlemann, Thomas Bast, Ulrich Bettendorf, Gerhard Kluger, Thomas Mayer, Bernd A. Neubauer, Tilman Polster, Sarah von Spiczak, Regina Trollmann, Markus Wolff, Toby Toward, Jens Gruenert, Eddie Gibson, Clive Pritchard, Joe Carroll, Felix Rosenow, Susanne Schubert-Bast
Publikováno v:
Neurological Research and Practice, Vol 4, Iss 1, Pp 1-10 (2022)
Abstract Background In Dravet syndrome (DS), a rare epileptic and developmental encephalopathy, the effectiveness of a new treatment is predominantly measured in terms of seizure frequency. However, this may not fully capture the impact of a treatmen
Externí odkaz:
https://doaj.org/article/e05ce7a84e6641ca8282ec1c9a87009e
Autor:
Janina Grau, Johann Philipp Zöllner, Susanne Schubert-Bast, Gerhard Kurlemann, Christoph Hertzberg, Adelheid Wiemer-Kruel, Thomas Bast, Astrid Bertsche, Ulrich Bettendorf, Barbara Fiedler, Andreas Hahn, Hans Hartmann, Frauke Hornemann, Ilka Immisch, Julia Jacobs, Matthias Kieslich, Karl Martin Klein, Kerstin A. Klotz, Gerhard Kluger, Markus Knuf, Thomas Mayer, Klaus Marquard, Sascha Meyer, Hiltrud Muhle, Karen Müller-Schlüter, Anna H. Noda, Susanne Ruf, Matthias Sauter, Jan-Ulrich Schlump, Steffen Syrbe, Charlotte Thiels, Regina Trollmann, Bernd Wilken, Laurent M. Willems, Felix Rosenow, Adam Strzelczyk
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)
Abstract Background Tuberous sclerosis complex (TSC), a multisystem genetic disorder, affects many organs and systems, characterized by benign growths. This German multicenter study estimated the disease-specific costs and cost-driving factors associ
Externí odkaz:
https://doaj.org/article/6b5b4f15ce534c76ba366fc0ad9156c1
Autor:
Konstantin L. Makridis, Thomas Bast, Christine Prager, Tatjana Kovacevic-Preradovic, Petra Bittigau, Thomas Mayer, Eva Breuer, Angela M. Kaindl
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
IntroductionIn one third of all patients with epilepsy, seizure freedom is not achieved through anti-seizure medication (ASM). These patients have an increased risk of earlier death, poorer cognitive development, and reduced quality of life. Cenobama
Externí odkaz:
https://doaj.org/article/5b7c9bd3063b4a2c898152ef0d3f663b
Autor:
Jan H. Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobias Dietel, G. Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke S. Møller, Gaetan Lesca, Yves Chaix, Stefan Kölker, Georg F. Hoffmann, Johannes R. Lemke, Steffen Syrbe
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 6, p 2824 (2021)
Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel Kv1.2, have been identified as the cause for an evolving spectrum of neurological disorders. Affected individuals show early-onset developmental and epileptic encephalopat
Externí odkaz:
https://doaj.org/article/3665d05eee5e43669028aa3c37b7dad3
Autor:
Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G. Janzarik, Gerhard Kluger, Hiltrud Muhle, Rikke S. Møller, Konrad Platzer, Joana Larupa Santos, Iben Bache, Astrid Bertsche, Michaela Bonfert, Ingo Borggräfe, Philip J. Broser, Alexandre N. Datta, Trine Bjørg Hammer, Hans Hartmann, Anette Hasse-Wittmer, Marco Henneke, Hermann Kühne, Johannes R. Lemke, Oliver Maier, Eva Matzker, Andreas Merkenschlager, Joachim Opp, Steffi Patzer, Kevin Rostasy, Birgit Stark, Adam Strzelczyk, Celina von Stülpnagel, Yvonne Weber, Markus Wolff, Birgit Zirn, Georg Friedrich Hoffmann, Stefan Kölker, Steffen Syrbe
Publikováno v:
Biomedicines, Vol 8, Iss 11, p 456 (2020)
Pathogenic variants in PRRT2, encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed
Externí odkaz:
https://doaj.org/article/eb6e214b3abb422dac7278efdec1bac7
Autor:
Lena Muckenthaler, Oriana Marques, Silvia Colucci, Joachim Kunz, Piotr Fabrowski, Thomas Bast, Sandro Altamura, Britta Höchsmann, Hubert Schrezenmeier, Monika Langlotz, Paulina Richter-Pechanska, Tobias Rausch, Nicole Hofmeister-Mielke, Nikolas Gunkel, Matthias W. Hentze, Andreas E. Kulozik, Martina U. Muckenthaler
Publikováno v:
Blood. 139:1418-1422
Muckenthaler et al describe a novel form of hemochromatosis caused by a constitutional PIGA mutation in 3 children with associated neurologic dysfunction. Hemochromatosis results from decreased hepcidin, which is regulated by HFE, hemojuvelin (HJV),