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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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies von 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

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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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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation von 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.

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Parental mosaicism in epilepsies due to alleged de novo variants von 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.

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Mutations in KCNT1 cause a spectrum of focal epilepsies von 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.

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Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center von Hoelz, Hannes, Herdl, Christian, Gerstl, Lucia, Tacke, Moritz, Vill, Katharina, von Stuelpnagel, Celina, Rost, Imma, Hoertnagel, Konstanze, Abicht, Angela, Hollizeck, Sebastian, Larsen, Line H. G., Borggraefe, Ingo

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PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics von 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.

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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy von 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

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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies von 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.

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Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies von 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

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Incorporating epilepsy genetics into clinical practice: a 360°evaluation von 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.

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Identification and Characterization of the Thermus thermophilus 5-Methylcytidine (m5C) Methyltransferase Modifying 23 S Ribosomal RNA (rRNA) Base C1942 von Larsen, Line H.G., Rasmussen, Anette, Giessing, Anders M.B., Jogl, Gerwald, Kirpekar, Finn

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Multi-site-specific 16S rRNA methyltransferase RsmF from Thermus thermophilus von Demirci, Hasan, Larsen, Line H G, Hansen, Trine, Rasmussen, Anette, Cadambi, Ashwin, Gregory, Steven T, Kirpekar, Finn, Jogl, Gerwald

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