Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Year: 2025
Type: article
Source: RWTH Publications (RWTH Aachen)
Authors: Leitão, Elsa, Santini, Amandine, Cogne, Benjamin, Essid, Myriam, Athanasiadou, Maria, LaFlamme, Christy W., Marijon, Pierre, Bernard, Virginie, Chatron, Nicolas, Barcia, Giulia, Keren, Boris, Mignot, Cyril, Charles, Perrine, Besnard, Thomas, de Sainte Agathe, Jean-Madeleine, Fuerte, Edith P. Almanza, Sengupta, Soham, Milh, Mathieu, Ramond, Francis, Allan, Talia, An, Isabelle, Araujo, Camila, Arpin, Stephanie, Austin-Tse, Christina, Auvin, Stéphane, Baer, Sarah, Bahi-Buisson, Nadia, Bak, Mads, Barth, Magalie, Baulac, Stéphanie, Weirauch, Nathalie Bednark, Begemann, Matthias, Bennett, Mark F., Bensabath, Uriel, Bézieau, Stéphane, Bhouri, Rakia, Biehler, Margaux, Hammer, Trine Bjørg, Bogoin, Julie, Bonanno, Emilie, Boussion, Simon, Bramswig, Nuria C., Bris, Céline, Brosseau-Beauvir, Adelaide, Bruel, Ange-Line, Buratti, Julien, Chambon, Pascal, Chemaly, Nicole, Chesneau, Bertrand, Colin, Estelle, Colmard, Maxime, Conrad, Solène, Courtin, Thomas, Dang, Louis T., de Saint Martin, Anne, de Vanssay de Blavous Legendre, Caroline, Denommé-Pichon, Anne-Sophie, DiTroia, Stephanie, Doco-Fenzy, Martine, Dubourg, Christèle, Dubucs, Charlotte, Ducreux, Stéphanie, Dufour, Louis, Duquet, Romain, Durand, Benjamin, El Chehadeh, Salima, Elbracht, Miriam, Faivre, Laurence, Faoucher, Marie, Faudet, Anne, Forlani, Sylvie, Fradin, Mélanie, Gaignard, Pauline, Ganne, Benjamin, Garde, Aurore, Géraud, Justine, Gill, Deepak, Goldenberg, Alice, Grabli, David, Grisel, Coraline, Gueden, Sophie, Gueguen, Paul, Guerrot, Anne-Marie, Guichet, Agnès, Härting, Nina, Häusler, Martin Georg, Heide, Solveig, Héron, Bénédicte, Héron, Delphine, Heulin, Mathilde, Houdayer, Clara, Isidor, Bertrand, Jacquette, Aurélia, Januel, Louis, Jean-Marçais, Nolwenn, Jousselin, Kevin, Kaiser, Frank J., Kaya, Sabine, King, Chontelle, Konyukh, Marina, Kraft, Florian, Krause, Jeremias, Kirstetter, Rémi, Kuechler, Alma, Kurth, Ingo, Labalme, Audrey, Laloy, Jean-Serene, Laugel, Vincent, Bricquir, Floriane Le, Lèbre, Anne-Sophie, Lebrun, Marine, Leguern, Eric, Levy, Jonathan, Lieffering, Nico, Lyonnet, Stanislas, Lüthy, Kevin, Macdonald, Sian, Mansour-Hendili, Lamisse, Maraval, Julien, Mattausch, Carolin, Messaoud, Olfa, Morel, Godelieve, Mortreux, Jérémie, Munnich, Arnold, Nabbout, Rima, Nambot, Sophie, Navarro, Vincent, Neale, Ashana, Nguyen, Laetitia, Nizon, Mathilde, Nowak, Frédérique, O'Leary, Melanie C., Odent, Sylvie, Ojeda, Naomi Meave, Olin, Valerie, Õunap, Katrin, Pais, Lynn S., Paluch, Robin, Panagiotakaki, Eleni, Patat, Olivier, Perrin-Sabourin, Laurence, Petit, Florence, Philippe, Christophe, Piton, Amélie, Planes, Marc, Poirsier, Céline, Pouzet, Antoine, Prouteau, Clément, Quéméner-Redon, Sylvia, Renaud, Mathilde, Richard, Anne-Claire, Rio, Marlène, Rivier, Clotilde, Robin-Renaldo, Florence, Rollier, Paul, Rossi, Massimiliano, Roubertie, Agathe, Rupin, Mailys, Saugier-Veber, Pascale, Saneto, Russell, Sarrazin, Elisabeth, Schaefer, Elise, Schluth-Bolard, Caroline, Schneider, Amy, Schumann, Isabell, Seplyarskiy, Vladimir, Smol, Thomas, Sunyaev, Shamil, Sperelakis-Beedham, Brian, Stenton, Sarah L., Stock, Friedrich, Tharreau, Mylene, Torun, Deniz, Toulouse, Joseph, Thiyagarajah, Harshini, Valence, Stéphanie, Valleix, Sophie, Villard, Laurent, Ville, Dorothée, Villeneuve, Nathalie, Vitobello, Antonio, Waernessyckle, Aurélie, Weber, Yvonne Gerda, Wieczorek, Dagmar, Witkowski, Tom, Yadavilli, Manya, Yammine, Tony, Zaafrane-Khachnaoui, Khaoula, Zaki, Maha S., Ziegler, Alban, Lermine, Alban, Nicolas, Gael, Gleeson, Joseph G., Sadleir, Lynette G., Hildebrand, Michael S., Scheffer, Ingrid E., Whiffin, Nicola, O'Donnell-Luria, Anne, Mefford, Heather C., Blanc, Pierre, Thevenon, Julien, Charbonnier, Camille, Charenton, Clément, Depienne, Christel, Lesca, Gaetan, Nava, Caroline
Institution: RWTH Aachen University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7155032657