The impact of low-risk genetic variants in self-limited epilepsy with centrotemporal spikes aka Rolandic epilepsy

por Hansen, Thomas F, Møller, Rikke S
Publicado 2020

Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy

por Bayat, Allan, Bayat, Michael, Rubboli, Guido, Møller, Rikke S.
Publicado 2021

Dysregulation of FOXG1 by ring chromosome 14

por Alosi, Daniela, Klitten, Laura Line, Bak, Mads, Hjalgrim, Helle, Møller, Rikke Steensbjerre, Tommerup, Niels
Publicado 2015

Whole Genome Sequencing of Aggregatibacter actinomycetemcomitans Cultured from Blood Stream Infections Reveals Three Major Phylogenetic Groups Including a Novel Lineage Expressing...

por Nedergaard, Signe, Kobel, Carl M., Nielsen, Marie B., Møller, Rikke T., Jensen, Anne B., Nørskov-Lauritsen, Niels
Publicado 2019

Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature

por Talvik, Inga, Møller, Rikke S., Vaher, Merilin, Vaher, Ulvi, Larsen, Line HG, Dahl, Hans A., Ilves, Pilvi, Talvik, Tiina
Publicado 2015

Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies

por Beltrán-Corbellini, Álvaro, Aledo-Serrano, Ángel, Møller, Rikke S., Pérez-Palma, Eduardo, García-Morales, Irene, Toledano, Rafael, Gil-Nagel, Antonio
Publicado 2022

Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark

por Møller, Rikke S., Zhao, Liwei, Shoaff, Jessica R., Duno, Morten, Andersen, Brian Nauheimer, Nguyen, Viet, Fang, Terry C., Kupelian, Varant, Thorén, Robyn
Publicado 2022

Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome

por Bjerregaard, Victoria A., Levy, Amanda M., Batz, Mille S., Salehi, Ravina, Hildonen, Mathis, Hammer, Trine B., Møller, Rikke S., Desler, Claus, Tümer, Zeynep
Publicado 2023

Use of inhaled antibiotics among Danish patients with cystic fibrosis

por Møller, Rikke, Nielsen, Bibi Uhre, Faurholt‐Jepsen, Daniel, Katzenstein, Terese Lea, Skov, Marianne, Philipsen, Lue Katrine Drasbæk, Pressler, Tacjana, Johansen, Helle Krogh, Qvist, Tavs
Publicado 2022

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

por López-Rivera, Javier A, Pérez-Palma, Eduardo, Symonds, Joseph, Lindy, Amanda S, McKnight, Dianalee A, Leu, Costin, Zuberi, Sameer, Brunklaus, Andreas, Møller, Rikke S, Lal, Dennis
Publicado 2020

Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

por Kellner, Shai, Abbasi, Abeer, Carmi, Ido, Heinrich, Ronit, Garin-Shkolnik, Tali, Hershkovitz, Tova, Giladi, Moshe, Haitin, Yoni, Johannesen, Katrine M, Steensbjerre Møller, Rikke, Berlin, Shai
Publicado 2021

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

por Krey, Ilona, von Spiczak, Sarah, Johannesen, Kathrine M., Hikel, Christiane, Kurlemann, Gerhard, Muhle, Hiltrud, Beysen, Diane, Dietel, Tobias, Møller, Rikke S., Lemke, Johannes R., Syrbe, Steffen
Publicado 2022

Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant

por Gjerulfsen, Cathrine E., Mieszczanek, Tomasz S., Johannesen, Katrine M., Liao, Vivian W. Y., Chebib, Mary, Nørby, Helene A. J., Gardella, Elena, Rubboli, Guido, Ahring, Philip, Møller, Rikke S.
Publicado 2023

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

por Kolc, Kristy L., Sadleir, Lynette G., Depienne, Christel, Marini, Carla, Scheffer, Ingrid E., Møller, Rikke S., Trivisano, Marina, Specchio, Nicola, Pham, Duyen, Kumar, Raman, Roberts, Rachel, Gecz, Jozef
Publicado 2020

MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome

por Signorini, Cinzia, De Felice, Claudio, Leoncini, Silvia, Møller, Rikke S., Zollo, Gloria, Buoni, Sabrina, Cortelazzo, Alessio, Guerranti, Roberto, Durand, Thierry, Ciccoli, Lucia, D’Esposito, Maurizio, Ravn, Kirstine, Hayek, Joussef
Publicado 2016

Incorporating epilepsy genetics into clinical practice: a 360°evaluation

por Oates, Stephanie, Tang, Shan, Rosch, Richard, Lear, Rosalie, Hughes, Elaine F., Williams, Ruth E., Larsen, Line H. G., Hao, Qin, Dahl, Hans Atli, Møller, Rikke S., Pal, Deb K.
Publicado 2018

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

por Lal, Dennis, Reinthaler, Eva M., Altmüller, Janine, Toliat, Mohammad R., Thiele, Holger, Nürnberg, Peter, Lerche, Holger, Hahn, Andreas, Møller, Rikke S., Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz, Neubauer, Bernd A.
Publicado 2013

Correction: RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

por Lal, Dennis, Reinthaler, Eva M., Altmüller, Janine, Toliat, Mohammad R., Thiele, Holger, Nürnberg, Peter, Lerche, Holger, Hahn, Andreas, Møller, Rikke S., Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz, Neubauer, Bernd A.
Publicado 2013

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

por Brünger, Tobias, Pérez-Palma, Eduardo, Montanucci, Ludovica, Nothnagel, Michael, Møller, Rikke S, Schorge, Stephanie, Zuberi, Sameer, Symonds, Joseph, Lemke, Johannes R, Brunklaus, Andreas, Traynelis, Stephen F, May, Patrick, Lal, Dennis
Publicado 2022

Mild malformations of cortical development in sleep‐related hypermotor epilepsy due to KCNT1 mutations

por Rubboli, Guido, Plazzi, Giuseppe, Picard, Fabienne, Nobili, Lino, Hirsch, Edouard, Chelly, Jamel, Prayson, Richard A., Boutonnat, Jean, Bramerio, Manuela, Kahane, Philippe, Dibbens, Leanne M., Gardella, Elena, Baulac, Stéphanie, Møller, Rikke S.
Publicado 2018