Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases by Di Meglio, Chloé, Lesca, Gaetan, Villeneuve, Nathalie, Lacoste, Caroline, Abidi, Affef, Cacciagli, Pierre, Altuzarra, Cécilia, Roubertie, Agathe, Afenjar, Alexandra, Renaldo‐Robin, Florence, Isidor, Bertrand, Gautier, Agnes, Husson, Marie, Cances, Claude, Metreau, Julia, Laroche, Cécile, Chouchane, Mondher, Ville, Dorothée, Marignier, Stéphanie, Rougeot, Christelle, Lebrun, Marine, Saint Martin, Anne, Perez, Alexandra, Riquet, Audrey, Badens, Catherine, Missirian, Chantal, Philip, Nicole, Chabrol, Brigitte, Villard, Laurent, Milh, Mathieu

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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing by Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent

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JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study by Frémond, Marie-Louise, Hully, Marie, Fournier, Benjamin, Barrois, Rémi, Lévy, Romain, Aubart, Mélodie, Castelle, Martin, Chabalier, Delphine, Gins, Clarisse, Sarda, Eugénie, Al Adba, Buthaina, Couderc, Sophie, D’ Almeida, Céline, Berat, Claire-Marine, Durrleman, Chloé, Espil, Caroline, Lambert, Laetitia, Méni, Cécile, Périvier, Maximilien, Pillet, Pascal, Polivka, Laura, Schiff, Manuel, Todosi, Calina, Uettwiller, Florence, Lepelley, Alice, Rice, Gillian I., Seabra, Luis, Sanquer, Sylvia, Hulin, Anne, Pressiat, Claire, Goldwirt, Lauriane, Bondet, Vincent, Duffy, Darragh, Moshous, Despina, Bader-Meunier, Brigitte, Bodemer, Christine, Robin-Renaldo, Florence, Boddaert, Nathalie, Blanche, Stéphane, Desguerre, Isabelle, Crow, Yanick J., Neven, Bénédicte

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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies by Nil, Zelha, Deshwar, Ashish R., Huang, Yan, Barish, Scott, Zhang, Xi, Choufani, Sanaa, Le Quesne Stabej, Polona, Hayes, Ian, Yap, Patrick, Haldeman-Englert, Chad, Wilson, Carolyn, Prescott, Trine, Tveten, Kristian, Vøllo, Arve, Haynes, Devon, Wheeler, Patricia G., Zon, Jessica, Cytrynbaum, Cheryl, Jobling, Rebekah, Blyth, Moira, Banka, Siddharth, Afenjar, Alexandra, Mignot, Cyril, Robin-Renaldo, Florence, Keren, Boris, Kanca, Oguz, Mao, Xiao, Wegner, Daniel J., Sisco, Kathleen, Shinawi, Marwan, Wangler, Michael F., Weksberg, Rosanna, Yamamoto, Shinya, Costain, Gregory, Bellen, Hugo J.

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Epileptic patients with de novo STXBP 1 mutations: Key clinical features based on 24 cases by Di Meglio, Chloé, Lesca, Gaetan, Villeneuve, Nathalie, Lacoste, Caroline, Abidi, Affef, Cacciagli, Pierre, Altuzarra, Cécilia, Roubertie, Agathe, Afenjar, Alexandra, Renaldo‐Robin, Florence, Isidor, Bertrand, Gautier, Agnes, Husson, Marie, Cances, Claude, Metreau, Julia, Laroche, Cécile, Chouchane, Mondher, Ville, Dorothée, Marignier, Stéphanie, Rougeot, Christelle, Lebrun, Marine, de Saint Martin, Anne, Perez, Alexandra, Riquet, Audrey, Badens, Catherine, Missirian, Chantal, Philip, Nicole, Chabrol, Brigitte, Villard, Laurent, Milh, Mathieu

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