Phenotypic and genetic spectrum of SCN8A‐related disorders, treatment options, and outcomes von Gardella, Elena, Møller, Rikke S.

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The incidence of SCN1A‐related Dravet syndrome in Denmark is 1:22,000: A population‐based study from 2004 to 2009 von Bayat, Allan, Hjalgrim, Helle, Møller, Rikke S.

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

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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 von Carvill, Gemma L, Heavin, Sinéad B, Yendle, Simone C, McMahon, Jacinta M, O'Roak, Brian J, Cook, Joseph, Khan, Adiba, Dorschner, Michael O, Weaver, Molly, Calvert, Sophie, Malone, Stephen, Wallace, Geoffrey, Stanley, Thorsten, Bye, Ann M E, Bleasel, Andrew, Howell, Katherine B, Kivity, Sara, Mackay, Mark T, Rodriguez-Casero, Victoria, Webster, Richard, Korczyn, Amos, Afawi, Zaid, Zelnick, Nathanel, Lerman-Sagie, Tally, Lev, Dorit, Møller, Rikke S, Gill, Deepak, Andrade, Danielle M, Freeman, Jeremy L, Sadleir, Lynette G, Shendure, Jay, Berkovic, Samuel F, Scheffer, Ingrid E, Mefford, Heather C

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Utility of genetic testing for therapeutic decision‐making in adults with epilepsy von Johannesen, Katrine M., Nikanorova, Natalya, Marjanovic, Dragan, Pavbro, Agnieszka, Larsen, Line H. G., Rubboli, Guido, Møller, Rikke S.

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Recent advances in treatment of epilepsy-related sodium channelopathies von Musto, Elisa, Gardella, Elena, Møller, Rikke S.

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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 von Absalom, Nathan L., Liao, Vivian W. Y., Johannesen, Katrine M. H., Gardella, Elena, Jacobs, Julia, Lesca, Gaetan, Gokce-Samar, Zeynep, Arzimanoglou, Alexis, Zeidler, Shimriet, Striano, Pasquale, Meyer, Pierre, Benkel-Herrenbrueck, Ira, Mero, Inger-Lise, Rummel, Jutta, Chebib, Mary, Møller, Rikke S., Ahring, Philip K.

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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications von Brunklaus, Andreas, Brünger, Tobias, Feng, Tony, Fons, Carmen, Lehikoinen, Anni, Panagiotakaki, Eleni, Vintan, Mihaela-Adela, Symonds, Joseph, Andrew, James, Arzimanoglou, Alexis, Delima, Sarah, Gallois, Julie, Hanrahan, Donncha, Lesca, Gaetan, MacLeod, Stewart, Marjanovic, Dragan, McTague, Amy, Nuñez-Enamorado, Noemi, Perez-Palma, Eduardo, Scott Perry, M, Pysden, Karen, Russ-Hall, Sophie J, Scheffer, Ingrid E, Sully, Krystal, Syrbe, Steffen, Vaher, Ulvi, Velayutham, Murugan, Vogt, Julie, Weiss, Shelly, Wirrell, Elaine, Zuberi, Sameer M, Lal, Dennis, Møller, Rikke S, Mantegazza, Massimo, Cestèle, Sandrine

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RBFOX1 and RBFOX3 mutations in rolandic epilepsy von 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

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De novo variants in neurodevelopmental disorders with epilepsy von Heyne, Henrike O., Singh, Tarjinder, Stamberger, Hannah, Abou Jamra, Rami, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Guerrini, Renzo, Helbig, Katherine L., Koeleman, Bobby P. C., Kosmicki, Jack A., Linnankivi, Tarja, May, Patrick, Muhle, Hiltrud, Møller, Rikke S., Neubauer, Bernd A., Palotie, Aarno, Pendziwiat, Manuela, Striano, Pasquale, Tang, Sha, Wu, Sitao, Poduri, Annapurna, Weber, Yvonne G., Weckhuysen, Sarah, Sisodiya, Sanjay M., Daly, Mark J., Helbig, Ingo, Lal, Dennis, Lemke, Johannes R.

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Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies von Johannesen, Katrine, Marini, Carla, Pfeffer, Siona, Møller, Rikke S, Dorn, Thomas, Niturad, Christina, Gardella, Elena, Weber, Yvonne, Søndergård, Marianne, Hjalgrim, Helle, Nikanorova, Mariana, Becker, Felicitas, Larsen, Line H.G, Dahl, Hans A, Maier, Oliver, Mei, Davide, Biskup, Saskia, Klein, Karl M, Reif, Philipp S, Rosenow, Felix, Elias, Abdallah F, Hudson, Cindy, Helbig, Katherine L, Schubert-Bast, Susanne, Scordo, Maria R, Craiu, Dana, Djémié, Tania, Hoffman-Zacharska, Dorota, Caglayan, Hande, Helbig, Ingo, Serratosa, Jose, Striano, Pasquale, De Jonghe, Peter, Weckhuysen, Sarah, Suls, Arvid, Muru, Kai, Talvik, Inga, Talvik, Tiina, Muhle, Hiltrud, Borggraefe, Ingo, Rost, Imma, Guerrini, Renzo, Lerche, Holger, Lemke, Johannes R, Rubboli, Guido, Maljevic, Snezana

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STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy von Stamberger, Hannah, Nikanorova, Marina, Willemsen, Marjolein H, Accorsi, Patrizia, Angriman, Marco, Baier, Hartmut, Benkel-Herrenbrueck, Ira, Benoit, Valérie, Budetta, Mauro, Caliebe, Almuth, Cantalupo, Gaetano, Capovilla, Giuseppe, Casara, Gianluca, Courage, Carolina, Deprez, Marie, Destrée, Anne, Dilena, Robertino, Erasmus, Corrie E, Fannemel, Madeleine, Fjær, Roar, Giordano, Lucio, Helbig, Katherine L, Heyne, Henrike O, Klepper, Joerg, Kluger, Gerhard J, Lederer, Damien, Lodi, Monica, Maier, Oliver, Merkenschlager, Andreas, Michelberger, Nina, Minetti, Carlo, Muhle, Hiltrud, Phalin, Judith, Ramsey, Keri, Romeo, Antonino, Schallner, Jens, Schanze, Ina, Shinawi, Marwan, Sleegers, Kristel, Sterbova, Katalin, Syrbe, Steffen, Traverso, Monica, Tzschach, Andreas, Uldall, Peter, Van Coster, Rudy, Verhelst, Helene, Viri, Maurizio, Winter, Susan, Wolff, Markus, Zenker, Martin, Zoccante, Leonardo, De Jonghe, Peter, Helbig, Ingo, Striano, Pasquale, Lemke, Johannes R, Møller, Rikke S, Weckhuysen, Sarah

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy von Helbig, Ingo, Mefford, Heather C, Sharp, Andrew J, Guipponi, Michel, Fichera, Marco, Franke, Andre, Muhle, Hiltrud, de Kovel, Carolien, Baker, Carl, von Spiczak, Sarah, Kron, Katherine L, Steinich, Ines, Kleefuß-Lie, Ailing A, Leu, Costin, Gaus, Verena, Schmitz, Bettina, Klein, Karl M, Reif, Philipp S, Rosenow, Felix, Weber, Yvonne, Lerche, Holger, Zimprich, Fritz, Urak, Lydia, Fuchs, Karoline, Feucht, Martha, Genton, Pierre, Thomas, Pierre, Visscher, Frank, de Haan, Gerrit-Jan, Møller, Rikke S, Hjalgrim, Helle, Luciano, Daniela, Wittig, Michael, Nothnagel, Michael, Elger, Christian E, Nürnberg, Peter, Romano, Corrado, Malafosse, Alain, Koeleman, Bobby P C, Lindhout, Dick, Stephani, Ulrich, Schreiber, Stefan, Eichler, Evan E, Sander, Thomas

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Aberrant expression of miR‐218 and miR‐204 in human mesial temporal lobe epilepsy and hippocampal sclerosis—Convergence on axonal guidance von Kaalund, Sanne S., Venø, Morten T., Bak, Mads, Møller, Rikke S., Laursen, Henning, Madsen, Flemming, Broholm, Helle, Quistorff, Bjørn, Uldall, Peter, Tommerup, Niels, Kauppinen, Sakari, Sabers, Anne, Fluiter, Kees, Møller, Lisbeth B., Nossent, Anne Y., Silahtaroglu, Asli, Kjems, Jørgen, Aronica, Eleonora, Tümer, Zeynep

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GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants von Absalom, Nathan L, Lin, Susan X N, Liao, Vivian W Y, Chua, Han C, Møller, Rikke S, Chebib, Mary, Ahring, Philip K

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Quantitative EEG biomarkers for STXBP1‐related disorders von Cossu, Alberto, Furia, Francesca, Proietti, Jacopo, Ancora, Caterina, Reale, Chiara, Darra, Francesca, Previtali, Roberto, Bernardina, Bernardo Dalla, Rubboli, Guido, Beniczky, Sandor, Møller, Rikke S., Cantalupo, Gaetano, Gardella, Elena

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The first step towards personalized risk prediction for common epilepsies von Hansen, Thomas F, Møller, Rikke S

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The de novo GABRA4 p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits von Ahring, Philip K., Liao, Vivian W. Y., Lin, Susan, Absalom, Nathan L., Chebib, Mary, Møller, Rikke S.

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Early mortality in SCN8A-related epilepsies von Johannesen, Katrine M., Gardella, Elena, Scheffer, Ingrid, Howell, Katherine, Smith, Douglas M., Helbig, Ingo, Møller, Rikke S., Rubboli, Guido

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Reply: Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China von Johannesen, Katrine M, Liu, Yuanyuan, Gardella, Elena, Lerche, Holger, Møller, Rikke S

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