Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Year: 2025
Type: article
Study design: Observational Study
Abstract: 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; Chehadeh, Salima El; 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; 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
Source: RWTH Publications (RWTH Aachen)
Authors: Leitão, Elsa, Santini, Amandine, Keren, Boris, Kraft, Florian, Krause, Jeremias, Kirstetter, Rémi, Kuechler, Alma, Kurth, Ingo, Labalme, Audrey, Laloy, Jean-Serene, Laugel, Vincent, Bricquir, Floriane Le, Lèbre, Anne-Sophie, Mignot, Cyril, Lebrun, Marine, Leguern, Eric, Levy, Jonathan, Lieffering, Nico, Lyonnet, Stanislas, Lüthy, Kevin, Macdonald, Sian, Mansour-Hendili, Lamisse, Maraval, Julien, Mattausch, Carolin, Charles, Perrine, Messaoud, Olfa, Morel, Godelieve, Mortreux, Jérémie, Munnich, Arnold, Nabbout, Rima, Nambot, Sophie, Navarro, Vincent, Neale, Ashana, Nguyen, Laetitia, Nizon, Mathilde, Besnard, Thomas, Nowak, Frédérique, O'Leary, Melanie C., Odent, Sylvie, Ojeda, Naomi Meave, Olin, Valerie, Õunap, Katrin, Pais, Lynn S., Paluch, Robin, Panagiotakaki, Eleni, Patat, Olivier, de Sainte Agathe, Jean-Madeleine, Perrin-Sabourin, Laurence, Petit, Florence, Philippe, Christophe, Piton, Amélie, Planes, Marc, Poirsier, Céline, Pouzet, Antoine, Prouteau, Clément, Quéméner-Redon, Sylvia, Renaud, Mathilde, Fuerte, Edith P. Almanza, Richard, Anne-Claire, Rio, Marlène, Rivier, Clotilde, Robin-Renaldo, Florence, Rollier, Paul, Rossi, Massimiliano, Roubertie, Agathe, Rupin, Mailys, Saugier-Veber, Pascale, Saneto, Russell, Sengupta, Soham, Sarrazin, Elisabeth, Schaefer, Elise, Schluth-Bolard, Caroline, Schneider, Amy, Schumann, Isabell, Seplyarskiy, Vladimir, Smol, Thomas, Sunyaev, Shamil, Sperelakis-Beedham, Brian, Stenton, Sarah L., Milh, Mathieu, Stock, Friedrich, Tharreau, Mylene, Torun, Deniz, Toulouse, Joseph, Thiyagarajah, Harshini, Valence, Stéphanie, Valleix, Sophie, Villard, Laurent, Ville, Dorothée, Villeneuve, Nathalie, Ramond, Francis, Vitobello, Antonio, Waernessyckle, Aurélie, Weber, Yvonne Gerda, Wieczorek, Dagmar, Witkowski, Tom, Yadavilli, Manya, Yammine, Tony, Zaafrane-Khachnaoui, Khaoula, Zaki, Maha S., Ziegler, Alban, Allan, Talia, 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, Cogne, Benjamin, An, Isabelle, Thevenon, Julien, Charbonnier, Camille, Charenton, Clément, Depienne, Christel, Lesca, Gaetan, Nava, Caroline, Araujo, Camila, Arpin, Stephanie, Austin-Tse, Christina, Auvin, Stéphane, Baer, Sarah, Bahi-Buisson, Nadia, Bak, Mads, Barth, Magalie, Baulac, Stéphanie, Essid, Myriam, Weirauch, Nathalie Bednark, Begemann, Matthias, Bennett, Mark F., Bensabath, Uriel, Bézieau, Stéphane, Bhouri, Rakia, Biehler, Margaux, Hammer, Trine Bjørg, Bogoin, Julie, Bonanno, Emilie, Athanasiadou, Maria, Boussion, Simon, Bramswig, Nuria C., Bris, Céline, Brosseau-Beauvir, Adelaide, Bruel, Ange-Line, Buratti, Julien, Chambon, Pascal, Chemaly, Nicole, Chesneau, Bertrand, Colin, Estelle, LaFlamme, Christy W., 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, Marijon, Pierre, Dubucs, Charlotte, Ducreux, Stéphanie, Dufour, Louis, Duquet, Romain, Durand, Benjamin, El Chehadeh, Salima, Elbracht, Miriam, Faivre, Laurence, Faoucher, Marie, Faudet, Anne, Bernard, Virginie, Forlani, Sylvie, Fradin, Mélanie, Gaignard, Pauline, Ganne, Benjamin, Garde, Aurore, Géraud, Justine, Gill, Deepak, Goldenberg, Alice, Grabli, David, Grisel, Coraline, Chatron, Nicolas, Gueden, Sophie, Gueguen, Paul, Guerrot, Anne-Marie, Guichet, Agnès, Härting, Nina, Häusler, Martin Georg, Heide, Solveig, Héron, Bénédicte, Héron, Delphine, Heulin, Mathilde, Barcia, Giulia, Houdayer, Clara, Isidor, Bertrand, Jacquette, Aurélia, Januel, Louis, Jean-Marçais, Nolwenn, Jousselin, Kevin, Kaiser, Frank J., Kaya, Sabine, King, Chontelle, Konyukh, Marina
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7136096263