Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype cor... von Maillard, Pierre‐Yves, Baer, Sarah, Schaefer, Élise, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Fabre, Alexandre, Lacoste, Caroline, El Chehadeh, Salima, Piton, Amélie, Porter, Louise Frances, Perriard, Caroline, Wardé, Marie‐Thérèse Abi, Spitz, Marie‐Aude, Laugel, Vincent, Lesca, Gaëtan, Putoux, Audrey, Ville, Dorothée, Mignot, Cyril, Héron, Delphine, Nabbout, Rima, Barcia, Giulia, Rio, Marlène, Roubertie, Agathe, Meyer, Pierre, Paquis‐Flucklinger, Véronique, Patat, Olivier, Lefranc, Jérémie, Gerard, Marion, Bellescize, Julietta, Villard, Laurent, Saint Martin, Anne, Milh, Mathieu

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Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect von Bérat, Claire‐Marine, Montealegre, Sebastian, Wiedemann, Arnaud, Nuzum, Malou Le Corronc, Blondel, Amélie, Debruge, Hugo, Cano, Aline, Chabrol, Brigitte, Hoebeke, Célia, Polak, Michel, Stoupa, Athanasia, Feillet, François, Torre, Stéphanie, Boddaert, Nathalie, Bruel, Henri, Barth, Magalie, Damaj, Lena, Abi‐Wardé, Marie‐Thérèse, Afenjar, Alexandra, Benoist, Jean‐François, Madrange, Marine, Caccavelli, Laure, Renard, Perrine, Hubas, Arnaud, Nusbaum, Patrick, Pontoizeau, Clément, Gobin, Stéphanie, Endert, Peter, Ottolenghi, Chris, Maltret, Alice, Lonlay, Pascale

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Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease von Abi-Wardé, Marie-Thérèse, Roda, Célina, Arnoux, Jean-Baptiste, Servais, Aude, Habarou, Florence, Brassier, Anais, Pontoizeau, Clément, Barbier, Valérie, Bayart, Manuella, Leboeuf, Virginie, Chadefaux-Vekemans, Bernadette, Dubois, Sandrine, Assoun, Murielle, Belloche, Claire, Alili, Jean-Meidi, Husson, Marie-Caroline, Lesage, Fabrice, Dupic, Laurent, Theuil, Benoit, Ottolenghi, Chris, de Lonlay, Pascale

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Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions von Harrer, Philip, Schalk, Audrey, Shimura, Masaru, Baer, Sarah, Calmels, Nadège, Spitz, Marie Aude, Warde, Marie‐Thérèse Abi, Schaefer, Elise, Kittke, Volker M.Sc, Dincer, Yasemin, Wagner, Matias, Dzinovic, Ivana, Berutti, Riccardo, Sato, Tatsuharu, Shirakawa, Toshihiko, Okazaki, Yasushi, Murayama, Kei, Oexle, Konrad, Prokisch, Holger, Mall, Volker, Melčák, Ivo, Winkelmann, Juliane, Zech, Michael

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Treatment of new onset refractory status epilepticus/febrile infection‐related epilepsy syndrome with tocilizumab in a child and a young adult von Girardin, Marie‐Laure, Flamand, Thomas, Roignot, Ombeline, Abi Warde, Marie‐Thérèse, Mutschler, Véronique, Voulleminot, Paul, Guillot, Max, Dinkelacker, Vera, De Saint‐Martin, Anne

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Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre obs... von Alili, Jean-Meidi, Berleur, Marie-Pierre, Husson, Marie-Caroline, Mention, Karine, Schiff, Manuel, Arnoux, Jean-Baptiste, Brassier, Anaïs, Guemman, Anne-Sophie, Grisel, Coraline, Dubois, Sandrine, Abi-Wardé, Marie-Thérèse, Broissand, Christine, Servais, Aude, Dao, Myriam, de Lonlay, Pascale

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Putative founder effect of Arg338 AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families von Becker, Aurélie, Felici, Charlotte, Lambert, Laëtitia, Saint Martin, Anne, Abi‐Warde, Marie‐Thérèse, Schaefer, Elise, Zix, Christian, Zamani, Mina, Sadeghian, Saeid, Zeighami, Jawaher, Seifi, Tahereh, Azizimalamiri, Reza, Shariati, Gholamreza, Galehdari, Hamid, Selig, Mareike, Ding, Can, Duerinckx, Sarah, Pirson, Isabelle, Abramowicz, Marc, Clément, Guillemette, Leheup, Bruno, Jonveaux, Philippe, Lefort, Geneviève, Bronner, Myriam, Renaud, Mathilde, Bonnet, Céline

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Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up von Demaret, Tanguy, Lacaille, Florence, Wicker, Camille, Arnoux, Jean-Baptiste, Bouchereau, Juliette, Belloche, Claire, Gitiaux, Cyril, Grevent, David, Broissand, Christine, Adjaoud, Dalila, Abi Warde, Marie-Thérèse, Plantaz, Dominique, Bekri, Soumeya, de Lonlay, Pascale, Brassier, Anaïs

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PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review von Mercati, Oriane, Abi Warde, Marie-Thérèse, Lina-Granade, Geneviève, Rio, Marlène, Heide, Solveig, de Lonlay, Pascale, Ceballos-Picot, Irène, Robert, Matthieu P., Couloigner, Vincent, Beltrand, Jacques, Boddaert, Nathalie, Rodriguez, Diana, Rubinato, Elisa, Lapierre, Jean-Michel, Merlette, Christophe, Sanquer, Sylvia, Rötig, Agnès, Prokisch, Holger, Lyonnet, Stanislas, Loundon, Natalie, Kaplan, Josseline, Bonnefont, Jean-Paul, Munnich, Arnold, Besmond, Claude, Jonard, Laurence, Marlin, Sandrine

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Molecular and clinical descriptions of patients with GABA A receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype co... von Maillard, Pierre-Yves, Baer, Sarah, Schaefer, Élise, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Fabre, Alexandre, Lacoste, Caroline, El Chehadeh, Salima, Piton, Amélie, Porter, Louise Frances, Perriard, Caroline, Wardé, Marie-Thérèse Abi, Spitz, Marie-Aude, Laugel, Vincent, Lesca, Gaëtan, Putoux, Audrey, Ville, Dorothée, Mignot, Cyril, Héron, Delphine, Nabbout, Rima, Barcia, Giulia, Rio, Marlène, Roubertie, Agathe, Meyer, Pierre, Paquis-Flucklinger, Véronique, Patat, Olivier, Lefranc, Jérémie, Gerard, Marion, de Bellescize, Julietta, Villard, Laurent, De Saint Martin, Anne, Milh, Mathieu

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Neurocognitive profiles in MSUD school-age patients von Bouchereau, Juliette, Leduc-Leballeur, Julie, Pichard, Samia, Imbard, Apolline, Benoist, Jean-François, Abi Warde, Marie-Thérèse, Arnoux, Jean-Baptiste, Barbier, Valérie, Brassier, Anaïs, Broué, Pierre, Cano, Aline, Chabrol, Brigitte, Damon, Gilles, Gay, Claire, Guillain, Isabelle, Habarou, Florence, Lamireau, Delphine, Ottolenghi, Chris, Paermentier, Laetitia, Sabourdy, Frédérique, Touati, Guy, Ogier de Baulny, Hélène, de Lonlay, Pascale, Schiff, Manuel

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Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management von Wicker, Camille, Roux, Charles-Joris, Goujon, Louise, de Feraudy, Yvan, Hully, Marie, Brassier, Anais, Bérat, Claire-Marine, Chemaly, Nicole, Wiedemann, Arnaud, Damaj, Lena, Abi-Warde, Marie-Thérèse, Dobbelaere, Dries, Roubertie, Agathe, Cano, Aline, Arion, Alina, Kaminska, Anna, Da Costa, Sabrina, Bruneel, Arnaud, Vuillaumier-Barrot, Sandrine, Boddaert, Nathalie, Pascreau, Tiffany, Borgel, Delphine, Kossorotoff, Manoelle, Harroche, Annie, de Lonlay, P.

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Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia von Doummar, Diane, Dentel, Christel, Lyautey, Romane, Metreau, Julia, Keren, Boris, Drouot, Nathalie, Malherbe, Ludivine, Bouilleret, Viviane, Courraud, Jérémie, Valenti-Hirsch, Maria Paola, Minotti, Lorella, Dozieres-Puyravel, Blandine, Bär, Séverine, Scholly, Julia, Schaefer, Elise, Nava, Caroline, Wirth, Thomas, Nasser, Hala, de Salins, Marie, de Saint Martin, Anne, Warde, Marie Thérèse Abi, Kahane, Philippe, Hirsch, Edouard, Anheim, Mathieu, Friant, Sylvie, Chelly, Jamel, Mignot, Cyril, Rudolf, Gabrielle

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Large-scale screening of lipase acid deficiency in at risk population von Tebani, Abdellah, Sudrié-Arnaud, Bénédicte, Boudabous, Hela, Brassier, Anais, Anty, Rodolphe, Snanoudj, Sarah, Abergel, Armand, Abi Warde, Marie-Thérèse, Bardou-Jacquet, Edouard, Belbouab, Reda, Blanchet, Eloi, Borderon, Corinne, Bronowicki, Jean-Pierre, Cariou, Bertrand, Carette, Claire, Dabbas, Myriam, Dranguet, Hélène, de Ledinghen, Victor, Ferrières, Jean, Guillaume, Maeva, Krempf, Michel, Lacaille, Florence, Larrey, Dominique, Leroy, Vincent, Musikas, Marietta, Nguyen-Khac, Eric, Ouzan, Denis, Perarnau, Jean-Marc, Pilon, Carine, Ratzlu, Vlad, Thebaut, Alice, Thevenot, Thierry, Tragin, Isabelle, Triolo, Valérie, Vergès, Bruno, Vergnaud, Sabrina, Bekri, Soumeya

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Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders von Pontoizeau, Clément, Roda, Célina, Arnoux, Jean-Baptiste, Vignolo-Diard, Patricia, Brassier, Anais, Habarou, Florence, Barbier, Valérie, Grisel, Coraline, Abi-Warde, Marie-Thérèse, Boddaert, Nathalie, Kuster, Alice, Servais, Aude, Kaminska, Anna, Hennequin, Carole, Dupic, Laurent, Lesage, Fabrice, Touati, Guy, Valayannopoulos, Vassili, Chadefaux-Vekemans, Bernadette, Oualha, Mehdi, Eisermann, Monika, Ottolenghi, Chris, de Lonlay, Pascale

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The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies von Arnaud, Lionel, Abi Warde, Marie-Thérèse, Barcia, Giulia, de Bellescize, Julitta, Chatron, Nicolas, Faoucher, Marie, de Saint Martin, Anne, Héron, Delphine, Jedraszak, Guillaume, Lacoste, Caroline, Lèbre, Anne-Sophie, Jenneson-Lyver, Mélanie, Labalme, Audrey, Leguern, Eric, Mignot, Cyril, Milh, Mathieu, Nabbout, Rima, Nava, Caroline, Panagiotakaki, Eleni, Piton, Amélie, Schaefer, Elise, Thevenon, Julien, Villard, Laurent, Ville, Dorothée, Lesca, Gaetan

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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases von Cabasson, Sébastien, Van-Gils, Julien, Villéga, Frédéric, Abi-Warde, Marie-Thérèse, Barcia, Giulia, Lazaro, Leila, Cancés, Claude, Chelly, Jamel, Karsenty, Caroline, Rivera, Serge, de Saint-Martin, Anne, Trimouille, Aurélien, Villard, Laurent, Pédespan, Jean-Michel

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The Amplatzer Duct Occluder II: A New Device for Percutaneous Ductus Arteriosus Closure von SALIBA, ZAKHIA, EL-RASSI, ISSAM, ABI-WARDE, MARIE-THÉRÈSE, CHEHAB, GHASSAN, DAOU, LINDA, KHATER, DANIELE, GERBAKA, BERNARD, JEBARA, VICTOR

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Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations von Krebs-Drouot, Lila, Schalk, Audrey, Schaefer, Elise, Keyser, Christine, Gonzalez, Angela, Calmels, Nadège, Wardé, Marie-Thérèse Abi, Oertel, Laetitia, Acquaviva, C.écile, Mandel, Jean-Louis, Farrugia, Audrey

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Defining the phenotypic spectrum of SLC6A1 mutations von 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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