Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
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
Published in Nature genetics (01.07.2013)
Published in Nature genetics (01.07.2013)
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Recent advances in treatment of epilepsy-related sodium channelopathies
Musto, Elisa, Gardella, Elena, Møller, Rikke S.
Published in European journal of paediatric neurology (01.01.2020)
Published in European journal of paediatric neurology (01.01.2020)
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Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
Heyne, Henrike O, Baez-Nieto, David, Iqbal, Sumaiya, Palmer, Duncan S, Brunklaus, Andreas, May, Patrick, Johannesen, Katrine M, Lauxmann, Stephan, Lemke, Johannes R, Møller, Rikke S, Pérez-Palma, Eduardo, Scholl, Ute I, Syrbe, Steffen, Lerche, Holger, Lal, Dennis, Campbell, Arthur J, Wang, Hao-Ran, Pan, Jen, Daly, Mark J
Published in Science translational medicine (12.08.2020)
Published in Science translational medicine (12.08.2020)
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De novo variants in neurodevelopmental disorders with epilepsy
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
Published in Nature genetics (01.07.2018)
Published in Nature genetics (01.07.2018)
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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
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
Published in Nature communications (05.04.2022)
Published in Nature communications (05.04.2022)
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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
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
Published in Brain (London, England : 1878) (21.11.2022)
Published in Brain (London, England : 1878) (21.11.2022)
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Spectrum of GABAA receptor variants in epilepsy
Maljevic, Snezana, Møller, Rikke S, Reid, Christopher A, Pérez-Palma, Eduardo, Lal, Dennis, May, Patrick, Lerche, Holger
Published in Current opinion in neurology (01.04.2019)
Published in Current opinion in neurology (01.04.2019)
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Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies
Johannesen, Katrine, Marini, Carla, Pfeffer, Siona, Møller, Rikke S, Dorn, Thomas, Niturad, Cristina Elena, 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
Published in Neurology (13.09.2016)
Published in Neurology (13.09.2016)
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RBFOX1 and RBFOX3 mutations in rolandic epilepsy
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
Published in PloS one (06.09.2013)
Published in PloS one (06.09.2013)
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STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
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
Published in Neurology (08.03.2016)
Published in Neurology (08.03.2016)
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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Schmitz, Bettina, Zimprich, Fritz, Nothnagel, Michael, de Haan, Gerrit-Jan, Mefford, Heather C, Weber, Yvonne, Hjalgrim, Helle, Rosenow, Felix, Baker, Carl, Franke, Andre, Wittig, Michael, Steinich, Ines, Lerche, Holger, Eichler, Evan E, Urak, Lydia, Kleefuß-Lie, Ailing A, Romano, Corrado, de Kovel, Carolien, Fichera, Marco, Gaus, Verena, Sharp, Andrew J, Schreiber, Stefan, Malafosse, Alain, Helbig, Ingo, Thomas, Pierre, Muhle, Hiltrud, Klein, Karl M, Genton, Pierre, Guipponi, Michel, Fuchs, Karoline, Sander, Thomas, Visscher, Frank, Elger, Christian E, Koeleman, Bobby P C, Møller, Rikke S, Nürnberg, Peter, Kron, Katherine L, Leu, Costin, Feucht, Martha, Reif, Philipp S, Stephani, Ulrich, Lindhout, Dick, von Spiczak, Sarah, Luciano, Daniela
Published in Nature genetics (01.02.2009)
Published in Nature genetics (01.02.2009)
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The contribution of next generation sequencing to epilepsy genetics
Møller, Rikke S, Dahl, Hans A, Helbig, Ingo
Published in Expert review of molecular diagnostics (02.12.2015)
Published in Expert review of molecular diagnostics (02.12.2015)
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Journal Article
Early mortality in SCN8A-related epilepsies
Johannesen, Katrine M., Gardella, Elena, Scheffer, Ingrid, Howell, Katherine, Smith, Douglas M., Helbig, Ingo, Møller, Rikke S., Rubboli, Guido
Published in Epilepsy research (01.07.2018)
Published in Epilepsy research (01.07.2018)
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