The spectrum of intermediate SCN8A‐related epilepsy von Johannesen, Katrine M., Gardella, Elena, Encinas, Alejandra C., Lehesjoki, Anna‐Elina, Linnankivi, Tarja, Petersen, Michael B., Lund, Ida Charlotte Bay, Blichfeldt, Susanne, Miranda, Maria J., Pal, Deb K., Lascelles, Karine, Procopis, Peter, Orsini, Alessandro, Bonuccelli, Alice, Giacomini, Thea, Helbig, Ingo, Fenger, Christina D., Sisodiya, Sanjay M., Hernandez‐Hernandez, Laura, Krithika, Sundararaman, Rumple, Melissa, Masnada, Silvia, Valente, Marialuisa, Cereda, Cristina, Giordano, Lucio, Accorsi, Patrizia, Bürki, Sarah E., Mancardi, Margherita, Korff, Christian, Guerrini, Renzo, Spiczak, Sarah, Hoffman‐Zacharska, Dorota, Mazurczak, Tomasz, Coppola, Antonietta, Buono, Salvatore, Vecchi, Marilena, Hammer, Michael F., Varesio, Costanza, Veggiotti, Pierangelo, Lal, Dennis, Brünger, Tobias, Zara, Federico, Striano, Pasquale, Rubboli, Guido, Møller, Rikke S.

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Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype von Kojic, Marija, Gawda, Tomasz, Gaik, Monika, Begg, Alexander, Salerno-Kochan, Anna, Kurniawan, Nyoman D., Jones, Alun, Drożdżyk, Katarzyna, Kościelniak, Anna, Chramiec-Głąbik, Andrzej, Hediyeh-Zadeh, Soroor, Kasherman, Maria, Shim, Woo Jun, Sinniah, Enakshi, Genovesi, Laura A., Abrahamsen, Rannvá K., Fenger, Christina D., Madsen, Camilla G., Cohen, Julie S., Fatemi, Ali, Stark, Zornitza, Lunke, Sebastian, Lee, Joy, Hansen, Jonas K., Boxill, Martin F., Keren, Boris, Marey, Isabelle, Saenz, Margarita S., Brown, Kathleen, Alexander, Suzanne A., Mureev, Sergey, Batzilla, Alina, Davis, Melissa J., Piper, Michael, Bodén, Mikael, Burne, Thomas H. J., Palpant, Nathan J., Møller, Rikke S., Glatt, Sebastian, Wainwright, Brandon J.

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Gene Amplification as a Developmental Strategy: Isolation of Two Developmental Amplicons in Drosophila von Claycomb, Julie M., Benasutti, Matt, Bosco, Giovanni, Fenger, Douglas D., Orr-Weaver, Terry L.

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KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum von Bonardi, Claudia M., Heyne, Henrike O., Fiannacca, Martina, Fitzgerald, Mark P., Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaetan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M., Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, des Portes, Vincent, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Genevieve, Ville, Dorothee, Hirsch, Edouard, Maurey, Helene, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A., Kroes, Hester Y., Reale, Chiara, Fenger, Christina D., Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R., Moller, Rikke S., Rubboli, Guido

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Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy von Ahring, Philip K, Liao, Vivian W Y, Gardella, Elena, Johannesen, Katrine M, Krey, Ilona, Selmer, Kaja K, Stadheim, Barbro F, Davis, Hannah, Peinhardt, Charlotte, Koko, Mahmoud, Coorg, Rohini K, Syrbe, Steffen, Bertsche, Astrid, Santiago-Sim, Teresa, Diemer, Tue, Fenger, Christina D, Platzer, Konrad, Eichler, Evan E, Lerche, Holger, Lemke, Johannes R, Chebib, Mary, Møller, Rikke S

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Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies—a Study in a Tertiary Epilepsy Center von Bayat, Allan, Fenger, Christina D., Techlo, Tanya R., Højte, Anne F., Nørgaard, Ida, Hansen, Thomas F., Rubboli, Guido, Møller, Rikke S., group, Danish Cytogenetic Central Registry study

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IRF2BPL as a novel causative gene for progressive myoclonus epilepsy von Gardella, Elena, Michelucci, Roberto, Christensen, Hanne M., Fenger, Christina D., Reale, Chiara, Riguzzi, Patrizia, Pasini, Elena, Albini‐Riccioli, Luca, Papa, Valentina, Foschini, Maria Pia, Cenacchi, Giovanna, Furia, Francesca, Marjanovic, Dragan, Hammer, Trine B., Møller, Rikke S., Rubboli, Guido

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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function von Zilmer, Monica, Edmondson, Andrew C., Khetarpa, Sumeet A., Alesi, Viola, Zaki, Maha S., Rostasy, Kevin, Madsen, Camilla G., Lepri, Francesca R., Sinibaldi, Lorenzo, Cusmai, Raffaella, Novelli, Antonio, Issa, Mahmoud Y., Fenger, Christina D., Abou Jamra, Rami, Reutter, Heiko, Briuglia, Silvana, Agolini, Emanuele, Hansen, Lars, Petaja-Repo, Ulla E., Hintze, John, Raymond, Kimiyo M., Liedtke, Kristen, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G., Vitali, Cecilia, O'Brien, W. Timothy, Gardella, Elena, Rubboli, Guido, Rader, Daniel J., Schjoldager, Katrine T., Moller, Rikke S.

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A new neurodevelopmental disorder linked to heterozygous variants in UNC79 von Bayat, Allan, Liu, Zhenjiang, Luo, Sheng, Fenger, Christina D., Højte, Anne F., Isidor, Bertrand, Cogne, Benjamin, Larson, Austin, Zanus, Caterina, Faletra, Flavio, Keren, Boris, Musante, Luciana, Gourfinkel-An, Isabelle, Perrine, Charles, Demily, Caroline, Lesca, Gaeton, Liao, Weiping, Ren, Dejian

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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5 von Happ, Hannah C., Sadleir, Lynette G., Zemel, Matthew, de Valles-Ibáñez, Guillem, Hildebrand, Michael S., McConkie-Rosell, Allyn, McDonald, Marie, May, Halie, Sands, Tristan, Aggarwal, Vimla, Elder, Christopher, Feyma, Timothy, Bayat, Allan, Møller, Rikke S., Fenger, Christina D., Klint Nielsen, Jens Erik, Datta, Anita N., Gorman, Kathleen M., King, Mary D., Linhares, Natalia D., Burton, Barbara K., Paras, Andrea, Ellard, Sian, Rankin, Julia, Shukla, Anju, Majethia, Purvi, Olson, Rory J., Muthusamy, Karthik, Schimmenti, Lisa A., Starnes, Keith, Sedláčková, Lucie, Štěrbová, Katalin, Vlčková, Markéta, Laššuthová, Petra, Jahodová, Alena, Porter, Brenda E., Couque, Nathalie, Colin, Estelle, Prouteau, Clément, Collet, Corinne, Smol, Thomas, Caumes, Roseline, Vansenne, Fleur, Bisulli, Francesca, Licchetta, Laura, Person, Richard, Torti, Erin, McWalter, Kirsty, Webster, Richard, Gerard, Elizabeth E., Lesca, Gaetan, Szepetowski, Pierre, Scheffer, Ingrid E., Mefford, Heather C., Carvill, Gemma L.

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Epilepsy as a Novel Phenotype of BPTF-Related Disorders von Ferretti, Alessandro, Furlan, Margherita, Glinton, Kevin E., Fenger, Christina D., Boschann, Felix, Amlie-Wolf, Louise, Zeidler, Shimriet, Moretti, Raffaella, Stoltenburg, Corinna, Tarquinio, Daniel C., Furia, Francesca, Parisi, Pasquale, Rubboli, Guido, Devinsky, Orrin, Mignot, Cyril, Gripp, Karen W., Møller, Rikke S., Yang, Yaping, Stankiewicz, Pawel, Gardella, Elena

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D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicin... von Aledo-Serrano, Ángel, Valls-Carbó, Adrián, Fenger, Christina D., Groeppel, Gudrun, Hartlieb, Till, Pascual, Irene, Herraez, Erika, Cabal, Borja, García-Morales, Irene, Toledano, Rafael, Budke, Marcelo, Beltran-Corbellini, Álvaro, Baldassari, Sara, Coras, Roland, Kobow, Katja, Herrera, David M., del Barrio, Antonio, Dahl, Hans Atli, del Pino, Isabel, Baulac, Stéphanie, Blumcke, Ingmar, Møller, Rikke S., Gil-Nagel, Antonio

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GABRA1‐Related Disorders: From Genetic to Functional Pathways von Musto, Elisa, Liao, Vivian W. Y., Johannesen, Katrine M., Fenger, Christina D., Lederer, Damien, Kothur, Kavitha, Fisk, Katrina, Bennetts, Bruce, Vrielynck, Pascal, Delaby, Delphine, Ceulemans, Berten, Weckhuysen, Sarah, Sparber, Peter, Bouman, Arjan, Ardern‐Holmes, Simone, Troedson, Christopher, Battaglia, Domenica I., Goel, Himanshu, Feyma, Timothy, Bakhtiari, Somayeh, Tjoa, Linda, Boxill, Martin, Demina, Nina, Shchagina, Olga, Dadali, Elena, Kruer, Michael, Cantalupo, Gaetano, Contaldo, Ilaria, Polster, Tilman, Isidor, Bertrand, Bova, Stefania M., Fazeli, Walid, Wouters, Leen, Miranda, Maria J., Darra, Francesca, Pede, Elisa, Le Duc, Diana, Jamra, Rami Abou, Küry, Sébastien, Proietti, Jacopo, McSweeney, Niamh, Brokamp, Elly, Andrews, Peter Ian, Gouray Garcia, Marie, Chebib, Mary, Møller, Rikke S., Ahring, Philip K., Gardella, Elena

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Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised? von Gjerulfsen, Cathrine E., Møller, Rikke S., Fenger, Christina D., Hammer, Trine B., Bayat, Allan

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Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes von Neri, Sabrina, Maia, Nuno, Fortuna, Ana M., Damasio, Joana, Coale, Elizabeth, Willis, Mary, Jorge, Paula, Højte, Anne F., Fenger, Christina D., Møller, Rikke S., Bayat, Allan

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Myelin-specific T cells induce interleukin-1beta expression in lesion-reactive microglial-like cells in zones of axonal degeneration von Grebing, Manuela, Nielsen, Helle H., Fenger, Christina D., T. Jensen, Katrine, von Linstow, Christian U., Clausen, Bettina H., Söderman, Martin, Lambertsen, Kate L., Thomassen, Mads, Kruse, Torben A., Finsen, Bente

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PAN GU: a protein kinase that inhibits S phase and promotes mitosis in early Drosophila development von Fenger, D D, Carminati, J L, Burney-Sigman, D L, Kashevsky, H, Dines, J L, Elfring, L K, Orr-Weaver, T L

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The Drosophila MOS Ortholog Is Not Essential for Meiosis von Ivanovska, Irena, Lee, Ethan, Kwan, Kristen M., Fenger, Douglas D., Orr-Weaver, Terry L.

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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications von Johannesen, Katrine M, Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A, Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R, Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P Y Billie, Rho, Jong M, Ho, Alice W, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S, Braakman, Hilde M H, van der Zwaag, Bert, Harder, Aster V E, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M, Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E, Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M, Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie Cecile

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Drosophila PLUTONIUM protein is a specialized cell cycle regulator required at the onset of embryogenesis von Elfring, L K, Axton, J M, Fenger, D D, Page, A W, Carminati, J L, Orr-Weaver, T L

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