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mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node Mantoan Ritter, Laura; Annear, Nicholas M. P.; Baple, Emma L.; Ben-Chaabane, Leila Y.; Bodi, Istvan; Brosson, Lauren; Cadwgan, Jill E.; Coslett, Bryn; Crosby, Andrew H.; Davies, D. Mark; Daykin, Nicola; Dedeurwaerdere, Stefanie; Duehring Fenger, Christina; Dunlop, Elaine A.; Elmslie, Frances V.; Girodengo, Marie; Hambleton, Sophie; Jansen, Anna C.; Johnson, Simon R.; Kearley, Kelly C.; Kingswood, John C.; Laaniste, Liisi; Lachlan, Katherine; Latchford, Andrew; Madsen, Ralitsa R.; Mansour, Sahar; Mihaylov, Simeon R.; Muhammed, Louwai; Oliver, Claire; Pepper, Tom; Rawlins, Lettie E.; Schim van der Loeff, Ina; Siddiqui, Ata; Takhar, Pooja; Tatton-Brown, Katrina; Tee, Andrew R.; Tibarewal, Priyanka; Tye, Charlotte; Ultanir, Sila K.; Vanhaesebroeck, Bart; Zare, Benjamin; Pal, Deb K.; Bateman, Joseph M. Share Save
Epilepsy as a Novel Phenotype of BPTF-Related Disorders 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.; Moller, Rikke S.; Yang, Yaping; Stankiewicz, Pawel; Gardella, Elena Share Save
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease Nielsen, Malene Mejdahl; Petersen, Esben Thade; Fenger, Christina Duhring; Orngreen, Mette Cathrine; Siebner, Hartwig Roman; Boer, Vincent Oltman; Povaz, Michal; Lund, Allan; Gronborg, Sabine Weller; Hammer, Trine Bjorg Share Save
GABRA1-Related Disorders: From Genetic to Functional Pathways 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; Kury, Sebastien; Proietti, Jacopo; Mcsweeney, Niamh; Brokamp, Elly; Andrews, Peter Ian; Gouray Garcia, Marie; Chebib, Mary; Moller, Rikke S.; Ahring, Philip K.; Gardella, Elena Share Save
D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery Aledo-Serrano, Angel; Valls-Carbo, Adrian; Fenger, Christina D.; Groeppel, Gudrun; Hartlieb, Till; Pascual, Irene; Herraez, Erika; Cabal, Borja; Garcia-Morales, Irene; Toledano, Rafael; Budke, Marcelo; Beltran-Corbellini, Alvaro; Baldassari, Sara; Coras, Roland; Kobow, Katja; Herrera, David M.; del Barrio, Antonio; Dahl, Hans Atli; del Pino, Isabel; Baulac, Stephanie; Blumcke, Ingmar; Moller, Rikke S.; Gil-Nagel, Antonio Share Save
A new neurodevelopmental disorder linked to heterozygous variants in UNC79 Bayat, Allan; Liu, Zhenjiang; Luo, Sheng; Fenger, Christina D.; Hojte, Anne F.; Isidor, Bertrand; Cogne, Benjamin; Larson, Austin; Zanus, Caterina; Faletra, Flavio; Keren, Boris; Musante, Luciana; Gourfikel-An, Isabelle; Perrine, Charles; Demily, Caroline; Lesca, Gaeton; Liao, Weiping; Ren, Dejian Share Save
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders (vol 17, 1219262, 2023) Kassabian, Benedetta; Fenger, Christina Duhring; Willems, Marjolaine; Aledo-Serrano, Angel; Linnankivi, Tarja; Mcdonnell, Pamela Pojomovsky; Lusk, Laina; Jepsen, Birgit Susanne; Bayat, Michael; Kattentidt-Mouravieva, Anja A.; Vidal, Anna Abuli; Valero-Lopez, Gabriel; Alarcon-Martinez, Helena; Goodspeed, Kimberly; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Moller, Rikke S.; Johannesen, Katrine M.; Rubboli, Guido Share Save
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders Kassabian, Benedetta; Fenger, Christina Duhring; Willems, Marjolaine; Aledo-Serrano, Angel; Linnankivi, Tarja; McDonnell, Pamela Pojomovsky; Lusk, Laina; Jepsen, Birgit Susanne; Bayat, Michael; Kattentidt, Anja; Vidal, Anna Abuli; Valero-Lopez, Gabriel; Alarcon-Martinez, Helena; Goodspeed, Kimberly; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Moller, Rikke S.; Johannesen, Katrine M.; Rubboli, Guido Share Save
An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal Omelkova, Michaela; Fenger, Christina Duhring; Murray, Marta; Hammer, Trine Bjorg; Pravata, Veronica M.; Bartuai, Sergio Galan; Czajewski, Ignacy; Bayat, Allan; Ferenbach, Andrew T.; Stavridis, Marios P.; van Aalten, Daan M. F. Share Save
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy 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.; Moller, Rikke S.; Rubboli, Guido Share Save
Ploidy-stratified single cardiomyocyte transcriptomics map Zinc Finger E-Box Binding Homeobox 1 to underly cardiomyocyte proliferation before birth Bak, Sara Thornby; Harvald, Eva Bang; Ellman, Ditte Gry; Mathiesen, Sabrina Bech; Chen, Ting; Fang, Shu; Andersen, Kristian Skriver; Fenger, Christina Duhring; Burton, Mark; Thomassen, Mads; Andersen, Ditte Caroline Share Save
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5 Happ, Hannah C.; Sadleir, Lynette G.; Zemel, Matthew; de Valles-Ibanez, Guillem; Hildebrand, Michael S.; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Moller, 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; Sedlackova, Lucie; Sterbova, Katalin; Vlckova, Marketa; Lassuthova, Petra; Jahodova, Alena; Porter, Brenda E.; Couque, Nathalie; Colin, Estelle; Prouteau, Clement; 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. Share Save
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Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy 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; Moller, Rikke S. Share Save
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications 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; Krueger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthova, 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; Ngoc Minh Le; Christensen, Jakob; Gronborg, Sabine; Scherer, Stephen W.; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B.; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Benedicte; Matricardi, Sara; Bonardi, Claudia M.; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vollo, Arve; Motazacker, M. Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gelisse, 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.; Muller-Schluter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie-Cecile; Destree, Anne; Schoonjans, An-Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen-Hann; Olson, Heather E.; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L.; Helbig, Ingo; Fitzgerald, Mark P.; Goldberg, Ethan M.; Roser, Timo; Borggraefe, Ingo; Brunger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O.; Lesca, Gaetan; Hedrich, Ulrike B. S.; Benda, Jan; Gardella, Elena; Lerche, Holger; Moller, Rikke S. Share Save
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum 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 Share Save
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