The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome by Larsen, Jan, Johannesen, Katrine Marie, Ek, Jakob, Tang, Shan, Marini, Carla, Blichfeldt, Susanne, Kibæk, Maria, Spiczak, Sarah, Weckhuysen, Sarah, Frangu, Mimoza, Neubauer, Bernd Axel, Uldall, Peter, Striano, Pasquale, Zara, Federico, Kleiss, Rebecca, Simpson, Michael, Muhle, Hiltrud, Nikanorova, Marina, Jepsen, Birgit, Tommerup, Niels, Stephani, Ulrich, Guerrini, Renzo, Duno, Morten, Hjalgrim, Helle, Pal, Deb, Helbig, Ingo, Møller, Rikke Steensbjerre, Craiu, DC, Caglayan, HS, Talvik, T, Weber, YG, Barisic, N

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Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants by Mohammadi, Nazanin Azarinejad, Ahring, Philip Kiær, Yu Liao, Vivian Wan, Chua, Han Chow, Ortiz de la Rosa, Sebastián, Johannesen, Katrine Marie, Michaeli-Yossef, Yael, Vincent-Devulder, Aline, Meridda, Catherine, Bruel, Ange-Line, Rossi, Alessandra, Patel, Chirag, Klepper, Joerg, Bonanni, Paolo, Minghetti, Sara, Trivisano, Marina, Specchio, Nicola, Amor, David, Auvin, Stéphane, Baer, Sarah, Meyer, Pierre, Milh, Mathieu, Salpietro, Vincenzo, Maroofian, Reza, Lemke, Johannes R., Weckhuysen, Sarah, Christophersen, Palle, Rubboli, Guido, Chebib, Mary, Jensen, Anders A., Absalom, Nathan L., Møller, Rikke Steensbjerre

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Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variantsResearch in context by Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Katrine Marie Johannesen, Yael Michaeli-Yossef, Aline Vincent-Devulder, Catherine Meridda, Ange-Line Bruel, Alessandra Rossi, Chirag Patel, Joerg Klepper, Paolo Bonanni, Sara Minghetti, Marina Trivisano, Nicola Specchio, David Amor, Stéphane Auvin, Sarah Baer, Pierre Meyer, Mathieu Milh, Vincenzo Salpietro, Reza Maroofian, Johannes R. Lemke, Sarah Weckhuysen, Palle Christophersen, Guido Rubboli, Mary Chebib, Anders A. Jensen, Nathan L. Absalom, Rikke Steensbjerre Møller

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The role of SLC 2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT 1 deficiency syndrome by Larsen, Jan, Johannesen, Katrine Marie, Ek, Jakob, Tang, Shan, Marini, Carla, Blichfeldt, Susanne, Kibæk, Maria, von Spiczak, Sarah, Weckhuysen, Sarah, Frangu, Mimoza, Neubauer, Bernd Axel, Uldall, Peter, Striano, Pasquale, Zara, Federico, Kleiss, Rebecca, Simpson, Michael, Muhle, Hiltrud, Nikanorova, Marina, Jepsen, Birgit, Tommerup, Niels, Stephani, Ulrich, Guerrini, Renzo, Duno, Morten, Hjalgrim, Helle, Pal, Deb, Helbig, Ingo, Møller, Rikke Steensbjerre

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Defining the phenotypic spectrum of SLC6A1 mutations by Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Saint Martin, Anne, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J. Lawrence, Rodan, Lance H., Tan, Wen‐Hann, Bird, Lynne M., Nespeca, Mark, Gleeson, Joseph G., Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S., Schelhaas, Helenius J., Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G., Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E., Pisani, Laura, Myers, Candace T., Tang, Sha, Tang, Shan, Pal, Deb K., Millichap, John J., Carvill, Gemma L., Helbig, Kathrine L., Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C., Møller, Rikke S.

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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder by Courraud, Jérémie, Chater-Diehl, Eric, Durand, Benjamin, Vincent, Marie, Del Mar Muniz Moreno, Maria, Boujelbene, Imene, Drouot, Nathalie, Genschik, Loréline, Schaefer, Elise, Nizon, Mathilde, Gerard, Bénédicte, Abramowicz, Marc, Cogné, Benjamin, Bronicki, Lucas, Burglen, Lydie, Barth, Magalie, Charles, Perrine, Colin, Estelle, Coubes, Christine, David, Albert, Delobel, Bruno, Demurger, Florence, Passemard, Sandrine, Denommé, Anne-Sophie, Faivre, Laurence, Feger, Claire, Fradin, Mélanie, Francannet, Christine, Genevieve, David, Goldenberg, Alice, Guerrot, Anne-Marie, Isidor, Bertrand, Johannesen, Katrine M, Keren, Boris, Kibæk, Maria, Kuentz, Paul, Mathieu-Dramard, Michèle, Demeer, Bénédicte, Metreau, Julia, Steensbjerre Møller, Rikke, Moutton, Sébastien, Pasquier, Laurent, Pilekær Sørensen, Kristina, Perrin, Laurence, Renaud, Mathilde, Saugier, Pascale, Rio, Marlène, Svane, Joane, Thevenon, Julien, Tran Mau Them, Frédéric, Tronhjem, Cathrine Elisabeth, Vitobello, Antonio, Layet, Valérie, Auvin, Stéphane, Khachnaoui, Khaoula, Birling, Marie-Christine, Drunat, Séverine, Bayat, Allan, Dubourg, Christèle, El Chehadeh, Salima, Fagerberg, Christina, Mignot, Cyril, Guipponi, Michel, Bienvenu, Thierry, Herault, Yann, Thompson, Julie, Willems, Marjolaine, Mandel, Jean-Louis, Weksberg, Rosanna, Piton, Amélie

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GABRA1‐Related Disorders: From Genetic to Functional Pathways by 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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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders by Wolff, Markus, Johannesen, Katrine M, Hedrich, Ulrike B S, Masnada, Silvia, Rubboli, Guido, Gardella, Elena, Lesca, Gaetan, Ville, Dorothée, Milh, Mathieu, Villard, Laurent, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Mignot, Cyril, Lardennois, Caroline, Nava, Caroline, Schwarz, Niklas, Gérard, Marion, Perrin, Laurence, Doummar, Diane, Auvin, Stéphane, Miranda, Maria J, Hempel, Maja, Brilstra, Eva, Knoers, Nine, Verbeek, Nienke, van Kempen, Marjan, Braun, Kees P, Mancini, Grazia, Biskup, Saskia, Hörtnagel, Konstanze, Döcker, Miriam, Bast, Thomas, Loddenkemper, Tobias, Wong-Kisiel, Lily, Baumeister, Friedrich M, Fazeli, Walid, Striano, Pasquale, Dilena, Robertino, Fontana, Elena, Zara, Federico, Kurlemann, Gerhard, Klepper, Joerg, Thoene, Jess G, Arndt, Daniel H, Deconinck, Nicolas, Schmitt-Mechelke, Thomas, Maier, Oliver, Muhle, Hiltrud, Wical, Beverly, Finetti, Claudio, Brückner, Reinhard, Pietz, Joachim, Golla, Günther, Jillella, Dinesh, Linnet, Karen M, Charles, Perrine, Moog, Ute, Õiglane-Shlik, Eve, Mantovani, John F, Park, Kristen, Deprez, Marie, Lederer, Damien, Mary, Sandrine, Scalais, Emmanuel, Selim, Laila, Van Coster, Rudy, Lagae, Lieven, Nikanorova, Marina, Hjalgrim, Helle, Korenke, G Christoph, Trivisano, Marina, Specchio, Nicola, Ceulemans, Berten, Dorn, Thomas, Helbig, Katherine L, Hardies, Katia, Stamberger, Hannah, de Jonghe, Peter, Weckhuysen, Sarah, Lemke, Johannes R, Krägeloh-Mann, Ingeborg, Helbig, Ingo, Kluger, Gerhard, Lerche, Holger, Møller, Rikke S

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SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis by Stefanski, Arthur, Pérez-Palma, Eduardo, Brünger, Tobias, Montanucci, Ludovica, Gati, Cornelius, Klöckner, Chiara, Johannesen, Katrine M, Goodspeed, Kimberly, Macnee, Marie, Deng, Alexander T, Aledo-Serrano, Ángel, Borovikov, Artem, Kava, Maina, Bouman, Arjan M, Hajianpour, M J, Pal, Deb K, Engelen, Marc, Hagebeuk, Eveline E O, Shinawi, Marwan, Heidlebaugh, Alexis R, Oetjens, Kathryn, Hoffman, Trevor L, Striano, Pasquale, Freed, Amanda S, Futtrup, Line, Balslev, Thomas, Abulí, Anna, Danvoye, Leslie, Lederer, Damien, Balci, Tugce, Nouri, Maryam Nabavi, Butler, Elizabeth, Drewes, Sarah, van Engelen, Kalene, Howell, Katherine B, Khoury, Jean, May, Patrick, Trinidad, Marena, Froelich, Steven, Lemke, Johannes R, Tiller, Jacob, Freed, Amber N, Kang, Jing-Qiong, Wuster, Arthur, Møller, Rikke S, Lal, Dennis

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Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants by Cuccurullo, Claudia, Cerulli Irelli, Emanuele, Ugga, Lorenzo, Riva, Antonella, D'Amico, Alessandra, Cabet, Sara, Lesca, Gaetan, Bilo, Leonilda, Zara, Federico, Iliescu, Catrinel, Barca, Diana, Fung, France, Helbig, Katherine, Ortiz‐Gonzalez, Xilma, Schelhaas, Helenius J., Willemsen, Marjolein H., van der Linden, Inge, Canafoglia, Laura, Courage, Carolina, Gommaraschi, Samuele, Gonzalez‐Alegre, Pedro, Bardakjian, Tanya, Syrbe, Steffen, Schuler, Elisabeth, Lemke, Johannes R., Vari, Stella, Roende, Gitte, Bak, Mads, Huq, Mahbulul, Powis, Zoe, Johannesen, Katrine M., Hammer, Trine Bjørg, Møller, Rikke S., Rabin, Rachel, Pappas, John, Zupanc, Mary L., Zadeh, Neda, Cohen, Julie, Naidu, Sakkubai, Krey, Ilona, Saneto, Russell, Thies, Jenny, Licchetta, Laura, Tinuper, Paolo, Bisulli, Francesca, Minardi, Raffaella, Bayat, Allan, Villeneuve, Nathalie, Molinari, Florence, Salimi Dafsari, Hormos, Moller, Birk, Le Roux, Marie, Houdayer, Clara, Vecchi, Marilena, Mammi, Isabella, Fiorini, Elena, Proietti, Jacopo, Ferri, Sofia, Cantalupo, Gaetano, Battaglia, Domenica Immacolata, Gambardella, Maria Luigia, Contaldo, Ilaria, Brogna, Claudia, Trivisano, Marina, De Dominicis, Angela, Bova, Stefania Maria, Gardella, Elena, Striano, Pasquale, Coppola, Antonietta

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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications by Johannesen, Katrine M, Koko, Mahmoud, Gjerulfsen, Cathrine E, Schubert, Julian, Eltokhi, Ahmed, Koch, Nils A, Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Sterbova, Katalin, Vlckova, Marketa, 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, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S, van der Zwaag, Bert, Harder, Aster V E, Brilstra, Eva, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B, Leventer, Richard, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M, Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Vøllo, Arve, Motazacker, M Mahdi, Lakeman, Phillis, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M Scott, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E, Eisenhauer, Nancy, Savatt, Juliann M, Bassan, Haim, Borovikov, Artem, Nassogne, Marie Cecile, Schoonjans, An Sofie, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Tan, Wen Hann, Olson, Heather E, Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L, Helbig, Ingo, Goldberg, Ethan M, Borggraefe, Ingo, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O, Lesca, Gaetan, Hedrich, Ulrike B S, Benda, Jan, Gardella, Elena, Lerche, Holger

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Structural mapping of GABRB3 variants reveals genotype–phenotype correlations by Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Pérez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M.H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W.Y., Ahring, Philip K., Møller, Rikke S., Gardella, Elena

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