Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy by Allan Bayat, Michael Bayat, Guido Rubboli, Rikke S. Møller

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Whole Genome Sequencing of <i>Aggregatibacter actinomycetemcomitans</i> Cultured from Blood Stream Infections Reveals Three Major Phylogenetic Groups Including a Novel Lineage Expr... by Signe Nedergaard, Carl M. Kobel, Marie B. Nielsen, Rikke T. Møller, Anne B. Jensen, Niels Nørskov-Lauritsen

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Involvement of Mitochondrial Dysfunction in <i>FOXG1</i> Syndrome by Victoria A. Bjerregaard, Amanda M. Levy, Mille S. Batz, Ravina Salehi, Mathis Hildonen, Trine B. Hammer, Rikke S. Møller, Claus Desler, Zeynep Tümer

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Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark by Rikke S. Møller, Liwei Zhao, Jessica R. Shoaff, Morten Duno, Brian Nauheimer Andersen, Viet Nguyen, Terry C. Fang, Varant Kupelian, Robyn Thorén

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Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy by Rebekah de Nys, Clare L. van Eyk, Tarin Ritchie, Rikke S. Møller, Ingrid E. Scheffer, Carla Marini, Rudrarup Bhattacharjee, Raman Kumar, Jozef Gecz

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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

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Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies by Álvaro Beltrán-Corbellini, Ángel Aledo-Serrano, Rikke S. Møller, Eduardo Pérez-Palma, Irene García-Morales, Irene García-Morales, Rafael Toledano, Rafael Toledano, Antonio Gil-Nagel

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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

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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

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MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome. by Cinzia Signorini, Claudio De Felice, Silvia Leoncini, Rikke S Møller, Gloria Zollo, Sabrina Buoni, Alessio Cortelazzo, Roberto Guerranti, Thierry Durand, Lucia Ciccoli, Maurizio D'Esposito, Kirstine Ravn, Joussef Hayek

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Incorporating epilepsy genetics into clinical practice: a 360°evaluation by Stephanie Oates, Shan Tang, Richard Rosch, Rosalie Lear, Elaine F. Hughes, Ruth E. Williams, Line H. G. Larsen, Qin Hao, Hans Atli Dahl, Rikke S. Møller, Deb K. Pal

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Correction: and Mutations in Rolandic Epilepsy. by Dennis Lal, Eva M. Reinthaler, Janine Altmüller, Mohammad R. Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S. Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A. Neubauer

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RBFOX1 and RBFOX3 mutations in rolandic epilepsy. by Dennis Lal, Eva M Reinthaler, Janine Altmüller, Mohammad R Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A Neubauer

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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

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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

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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

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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

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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

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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

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Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies by Nathan L. Absalom, Vivian W. Y. Liao, Katrine M. H. Johannesen, Elena Gardella, Julia Jacobs, Gaetan Lesca, Zeynep Gokce-Samar, Alexis Arzimanoglou, Shimriet Zeidler, Pasquale Striano, Pierre Meyer, Ira Benkel-Herrenbrueck, Inger-Lise Mero, Jutta Rummel, Mary Chebib, Rikke S. Møller, Philip K. Ahring

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