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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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
Møller, Rikke S, Wuttke, Thomas V, Helbig, Ingo, Marini, Carla, Johannesen, Katrine M, Brilstra, Eva H, Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L, Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T, Larsen, Line H G, Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L, Dahl, Hans A, Tommerup, Niels, Mefford, Heather C, Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R, Lerche, Holger, Muhle, Hiltrud, Maljevic, Snezana
Published in Neurology (31.01.2017)
Published in Neurology (31.01.2017)
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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
Gardella, Elena, Becker, Felicitas, Møller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael, Thiele, Holger, Altmüller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nürnberg, Peter, Mang, Yuan, Bakke Møller, Louise, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sándor, Weber, Yvonne G.
Published in Annals of neurology (01.03.2016)
Published in Annals of neurology (01.03.2016)
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Mutations in KCNT1 cause a spectrum of focal epilepsies
Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh‐Olsen, Bente, Dibbens, Leanne M.
Published in Epilepsia (Copenhagen) (01.09.2015)
Published in Epilepsia (Copenhagen) (01.09.2015)
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Parental mosaicism in epilepsies due to alleged de novo variants
Møller, Rikke S., Liebmann, Nora, Larsen, Line H. G., Stiller, Mathias, Hentschel, Julia, Kako, Nahrain, Abdin, Dalia, Di Donato, Nataliya, Pal, Deb K., Zacher, Pia, Syrbe, Steffen, Dahl, Hans A., Lemke, Johannes R.
Published in Epilepsia (Copenhagen) (01.06.2019)
Published in Epilepsia (Copenhagen) (01.06.2019)
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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
Møller, Rikke S, Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E Martina, Hiatt, Susan M, Prokop, Jeremy W, Bowling, Kevin M, Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H G, Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M, Baulac, Stéphanie
Published in Neurology. Genetics (01.12.2016)
Published in Neurology. Genetics (01.12.2016)
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Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters
Willimsky, Eva-Katharina, Munzig, Anna, Mayer, Karin, Biskup, Saskia, Abicht, Angela, Hoertnagel, Konstanze, Voss, Hubertus von, Klein, Hanns-Georg, Rost, Imma, Larsen, Line H.G., Dahl, Hanns Atli, Hoelz, Hannes, Stuelpnagel, Celina von, Borggraefe, Ingo
Published in Neuropediatrics (01.04.2021)
Published in Neuropediatrics (01.04.2021)
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PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
Bayat, Allan, Knaus, Alexej, Juul, Annika Wollenberg, Dukic, Dejan, Gardella, Elena, Charzewska, Agnieszka, Clement, Emma, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Horn, Denise, Horton, Rachel, Hurst, Jane A, Josifova, Dragana, Larsen, Line H G, Lascelles, Karine, Obersztyn, Ewa, Pagnamenta, Alistair, Pal, Deb K, Pendziwiat, Manuela, Ryten, Mina, Taylor, Jenny, Vogt, Julie, Weber, Yvonne, Krawitz, Peter M, Helbig, Ingo, Kini, Usha, Møller, Rikke S
Published in Genetics in medicine (01.10.2019)
Published in Genetics in medicine (01.10.2019)
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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies
Møller, Rikke S., Larsen, Line H.G., Johannesen, Katrine M., Talvik, Inga, Talvik, Tiina, Vaher, Ulvi, Miranda, Maria J., Farooq, Muhammad, Nielsen, Jens E.K., Lavard Svendsen, Lene, Kjelgaard, Ditte B., Linnet, Karen M., Hao, Qin, Uldall, Peter, Frangu, Mimoza, Tommerup, Niels, Baig, Shahid M., Abdullah, Uzma, Born, Alfred P., Gellert, Pia, Nikanorova, Marina, Olofsson, Kern, Jepsen, Birgit, Marjanovic, Dragan, Al-Zehhawi, Lana I.K., Peñalva, Sofia J., Krag-Olsen, Bente, Brusgaard, Klaus, Hjalgrim, Helle, Rubboli, Guido, Pal, Deb K., Dahl, Hans A.
Published in Molecular syndromology (01.09.2016)
Published in Molecular syndromology (01.09.2016)
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Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies
Tiefes, Anna M, Hartlieb, Till, Tacke, Moritz, von Stülpnagel-Steinbeis, Celina, Larsen, Line H G, Hao, Quin, Dahl, Hans Atli, Neubauer, Bernd A, Gerstl, Lucia, Kudernatsch, Manfred, Kluger, Gerhard J, Borggraefe, Ingo
Published in Clinical EEG and neuroscience (01.07.2019)
Published in Clinical EEG and neuroscience (01.07.2019)
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Incorporating epilepsy genetics into clinical practice: a 360°evaluation
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
Published in Npj genomic medicine (10.05.2018)
Published in Npj genomic medicine (10.05.2018)
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Identification and Characterization of the Thermus thermophilus 5-Methylcytidine (m5C) Methyltransferase Modifying 23 S Ribosomal RNA (rRNA) Base C1942
Larsen, Line H.G., Rasmussen, Anette, Giessing, Anders M.B., Jogl, Gerwald, Kirpekar, Finn
Published in The Journal of biological chemistry (10.08.2012)
Published in The Journal of biological chemistry (10.08.2012)
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Multi-site-specific 16S rRNA methyltransferase RsmF from Thermus thermophilus
Demirci, Hasan, Larsen, Line H G, Hansen, Trine, Rasmussen, Anette, Cadambi, Ashwin, Gregory, Steven T, Kirpekar, Finn, Jogl, Gerwald
Published in RNA (Cambridge) (01.08.2010)
Published in RNA (Cambridge) (01.08.2010)
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