Zobrazeno 1 - 10
of 49
pro vyhledávání: '"and Yvonne Weber"'
Autor:
Katharina Timpte, Ulrike Rosenkötter, Philipp Honrath, Yvonne Weber, Stefan Wolking, Jan Heckelmann
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionParoxysmal seizure-like events can be a diagnostic challenge. Inpatient video-electroencephalography (EEG) monitoring (VEM) can be a valuable diagnostic tool, but recommendations for the minimal duration of VEM to confirm or rule out epil
Externí odkaz:
https://doaj.org/article/3ce7a9adfc4a42c18fcd131d65263df7
Autor:
Isabelle Boothman, Lisa M. Clayton, Mark McCormack, Alexandra McKibben Driscoll, Remi Stevelink, Patrick Moloney, Roland Krause, Wolfram S. Kunz, Sarah Diehl, Terence J. O’Brien, Graeme J. Sills, Gerrit-Jan de Haan, Federico Zara, Bobby P. Koeleman, Chantal Depondt, Anthony G. Marson, Hreinn Stefansson, Kari Stefansson, John Craig, Michael R. Johnson, Pasquale Striano, Holger Lerche, Simon J. Furney, Norman Delanty, Consortium EpiPGX, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Joseph Willis, Mojgansadat Borghei, Simona Donatello, Martin J. Brodie, Pauls Auce, Andrea Jorgensen, Sarah R. Langley, Yvonne Weber, Christian Hengsbach, Martin Krenn, Fritz Zimprich, Ekaterina Pataraia, Karl Martin Klein, Hiltrud Muhle, Rikke S. Møller, Marina Nikanorova, Stefan Wolking, Ellen Campbell, Antonella Riva, Marcello Scala
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
BackgroundThe anti-seizure medication vigabatrin (VGB) is effective for controlling seizures, especially infantile spasms. However, use is limited by VGB-associated visual field loss (VAVFL). The mechanisms by which VGB causes VAVFL remains unknown.
Externí odkaz:
https://doaj.org/article/9ba7aecc0196466792d32bdb7c7d0945
Autor:
Francesca Vallese, Lorenzo Maso, Flavia Giamogante, Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Raffaele Lopreiato, Laura Cendron, Lorella Navazio, Ginevra Zanni, Yvonne Weber, Tatjana Kovacevic-Preradovic, Boris Keren, Alessandra Torraco, Rosalba Carrozzo, Francesco Peretto, Caterina Peggion, Stefania Ferro, Oriano Marin, Giuseppe Zanotti, Tito Calì, Marisa Brini, Ernesto Carafoli
Publikováno v:
Cell Death and Disease, Vol 13, Iss 10, Pp 1-14 (2022)
Abstract Calcium concentration must be finely tuned in all eukaryotic cells to ensure the correct performance of its signalling function. Neuronal activity is exquisitely dependent on the control of Ca2+ homeostasis: its alterations ultimately play a
Externí odkaz:
https://doaj.org/article/f8d8e2b2d085473b97ba00579a8eca6a
Autor:
Simone Seiffert, Manuela Pendziwiat, Ulrike B. S. Hedrich, Ingo Helbig, Yvonne Weber, Niklas Schwarz
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Recently, de novo variants in KCNC2, coding for the potassium channel subunit KV3.2, have been described as causative for various forms of epilepsy including genetic generalized epilepsy (GGE) and developmental and epileptic encephalopathy (DEE). Her
Externí odkaz:
https://doaj.org/article/f35535cc4a4a40148a114289331ac4de
Autor:
Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der Ven, Christian Malte Boßelmann, Johannes Lemke, Steffen Syrbe, Marjolein Hanna Willemsen, Ulrike Barbara Stefanie Hedrich, Ingo Helbig, Yvonne Weber
Publikováno v:
EBioMedicine, Vol 83, Iss , Pp 104234- (2022)
Summary: Objective: Fibroblast Growth Factor 12 (FGF12) may represent an important modulator of neuronal network activity and has been associated with developmental and epileptic encephalopathy (DEE). We sought to identify the underlying pathomechani
Externí odkaz:
https://doaj.org/article/9b7caa81b2d8413d952650a2d1d40fe9
Publikováno v:
Der Nervenarzt. 94:149-158
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f013551b774f1f5242fe4c7ee56c401
https://doi.org/10.1007/s00115-022-01434-8
https://doi.org/10.1007/s00115-022-01434-8
Autor:
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M. Krawitz
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-13 (2018)
Abstract Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresp
Externí odkaz:
https://doaj.org/article/65a240001c28434ca259e07e806334ff
Autor:
Ilona, Krey, Konrad, Platzer, Alina, Esterhuizen, Samuel F, Berkovic, Ingo, Helbig, Michael S, Hildebrand, Holger, Lerche, Daniel, Lowenstein, Rikke S, Møller, Annapurna, Poduri, Lynette, Sadleir, Sanjay M, Sisodiya, Sarah, Weckhuysen, Jo M, Wilmshurst, Yvonne, Weber, Johannes R, Lemke, Samuel F., Berkovic, J. Helen, Cross, Heathea C., Mefford, Piero, Perucca, Nigel C.K., Tan, Hande, Caglayan, Katherine, Helbig, Gagandeep, Singh
Publikováno v:
Epileptic disorders
Epilepsy genetics is a rapidly developing field, in which novel disease-associated genes, novel mechanisms associated with epilepsy, and precision medicine approaches are continuously being identified. In the past decade, advances in genomic knowledg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24aef99116abd652d701daacf1821872
https://doi.org/10.1684/epd.2022.1448
https://doi.org/10.1684/epd.2022.1448
Autor:
Jan Heckelmann, Yvonne Weber
Publikováno v:
Klinische Neurophysiologie. 53:148-153
ZusammenfassungEine Vielzahl von Präparaten mit Einfluss auf das zentrale Nervensystem, insbesondere Medikamente, die zur Standard-Therapie auf neurologischen Intensiv- und Überwachungsstationen gehören, haben einen Einfluss auf den elektroenzepha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::52ad35a12a3f9e1a4a9090bfeedb0b79
https://doi.org/10.1055/a-1875-1645
https://doi.org/10.1055/a-1875-1645
Autor:
Jan Heckelmann, Yvonne Weber
Publikováno v:
Nervenheilkunde. 41:487-491
ZUSAMMENFASSUNGDie Inzidenz vorübergehender Bewusstseinsverluste steigt mit zunehmendem Alter an, dies gilt jedoch sowohl für Anfälle epileptischer Genese als auch für Bewusstseinsverluste nicht epileptischer Natur, insbesondere aus kardialer ode
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95441ca2cf8e82514abd22e0396d3897
https://doi.org/10.1055/a-1844-8292
https://doi.org/10.1055/a-1844-8292