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The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders by Katrine M. Johannesen, Katrine M. Johannesen, Jimmi Nielsen, Jimmi Nielsen, Anne Sabers, Bertrand Isidor, Anja A. Kattentidt-Mouravieva, Dominik Zieglgänsberger, Alexis R. Heidlebaugh, Kathryn F. Oetjens, Anna Abuli Vidal, Jakob Christensen, Jakob Christensen, Jakob Christensen, Jacob Tiller, Amber N. Freed, Rikke S. Møller, Rikke S. Møller, Guido Rubboli, Guido Rubboli
Published 2023-08-01
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Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy by Shai Kellner, Abeer Abbasi, Ido Carmi, Ronit Heinrich, Tali Garin-Shkolnik, Tova Hershkovitz, Moshe Giladi, Yoni Haitin, Katrine M Johannesen, Rikke Steensbjerre Møller, Shai Berlin
Published 2021-07-01
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Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant by Cathrine E. Gjerulfsen, Tomasz S. Mieszczanek, Katrine M. Johannesen, Vivian W. Y. Liao, Mary Chebib, Helene A. J. Nørby, Elena Gardella, Guido Rubboli, Philip Ahring, Rikke S. Møller
Published 2023-08-01
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Functional Effects of Epilepsy Associated <i>KCNT1</i> Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity by Grigori Y. Rychkov, Zeeshan Shaukat, Chiao Xin Lim, Rashid Hussain, Ben J. Roberts, Claudia M. Bonardi, Guido Rubboli, Brandon F. Meaney, Robyn Whitney, Rikke S. Møller, Michael G. Ricos, Leanne M. Dibbens
Published 2022-12-01
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Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsy by Morad Kamand, Reema Taleb, Methi Wathikthinnakon, Fadumo Abdullahi Mohamed, Said Pasalar Ghazanfari, Denis Konstantinov, Jonas Laugård Hald, Bjørn Holst, Charlotte Brasch-Andersen, Rikke S. Møller, Johannes R. Lemke, Ilona Krey, Kristine Freude, Abinaya Chandrasekaran
Published 2024-04-01
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Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders by Benedetta Kassabian, Benedetta Kassabian, Christina Dühring Fenger, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Rikke S. Møller, Rikke S. Møller, Katrine M. Johannesen, Katrine M. Johannesen, Guido Rubboli, Guido Rubboli
Published 2023-08-01
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Intrafamilial variability in SLC6A1-related neurodevelopmental disorders by Benedetta Kassabian, Benedetta Kassabian, Christina Dühring Fenger, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Rikke S. Møller, Rikke S. Møller, Katrine M. Johannesen, Katrine M. Johannesen, Guido Rubboli, Guido Rubboli
Published 2023-07-01
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Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology by Paula Rivera-Sánchez, Line Søndergaard, Methi Wathikthinnakon, Helena B. D. Magnusson, Henriette R Frederiksen, Freja Aabæk Hammer, Reema Taleb, Conan Christian Cassidy, Mads Tranholm Bruun, Zeynep Tümer, Bjørn Holst, Charlotte Brasch-Andersen, Rikke S Møller, Kristine Freude, Abinaya Chandrasekaran
Published 2023-09-01
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Refining Genotypes and Phenotypes in <i>KCNA2</i>-Related Neurological Disorders by 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
Published 2021-03-01
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Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxiaResearch in context by Hang Lyu, Christian M. Boßelmann, Katrine M. Johannesen, Mahmoud Koko, Juan Dario Ortigoza-Escobar, Sergio Aguilera-Albesa, Deyanira Garcia-Navas Núñez, Tarja Linnankivi, Eija Gaily, Henriette J.A. van Ruiten, Ruth Richardson, Cornelia Betzler, Gabriella Horvath, Eva Brilstra, Niels Geerdink, Daniele Orsucci, Alessandra Tessa, Elena Gardella, Zofia Fleszar, Ludger Schöls, Holger Lerche, Rikke S. Møller, Yuanyuan Liu
Published 2023-12-01
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SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy by Delnaz Roshandel, Eric J. Sanders, Amy Shakeshaft, Naim Panjwani, Fan Lin, Amber Collingwood, Anna Hall, Katherine Keenan, Celine Deneubourg, Filippo Mirabella, Simon Topp, Jana Zarubova, Rhys H. Thomas, Inga Talvik, Marte Syvertsen, Pasquale Striano, Anna B. Smith, Kaja K. Selmer, Guido Rubboli, Alessandro Orsini, Ching Ching Ng, Rikke S. Møller, Kheng Seang Lim, Khalid Hamandi, David A. Greenberg, Joanna Gesche, Elena Gardella, Choong Yi Fong, Christoph P. Beier, Danielle M. Andrade, Heinz Jungbluth, Mark P. Richardson, Annalisa Pastore, Manolis Fanto, Deb K. Pal, Lisa J. Strug, the BIOJUME Consortium
Published 2023-09-01
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The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood by 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
Published 2020-10-01
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Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin by Isabelle Boothman, Isabelle Boothman, Isabelle Boothman, Lisa M. Clayton, 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, Federico Zara, Bobby P. Koeleman, Chantal Depondt, Anthony G. Marson, Hreinn Stefansson, Kari Stefansson, John Craig, Michael R. Johnson, Pasquale Striano, Pasquale Striano, Holger Lerche, Simon J. Furney, Norman Delanty, Consortium EpiPGX, Sanjay M. Sisodiya, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Gianpiero L. Cavalleri, 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
Published 2023-09-01
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