De novo mutations in HCN1 cause early infantile epileptic encephalopathy von Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G F, Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H, Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stéphanie, Zara, Federico, Koeleman, Bobby P C, Haaf, Thomas, LeGuern, Eric, Depienne, Christel

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SYNGAP1-DEE: A visual sensitive epilepsy von Lo Barco, Tommaso, Kaminska, Anna, Solazzi, Roberta, Cancés, Claude, Barcia, Giulia, Chemaly, Nicole, Fontana, Elena, Desguerre, Isabelle, Canafoglia, Laura, Hachon Le Camus, Caroline, Losito, Emma, Villard, Laurent, Eisermann, Monika, Dalla Bernardina, Bernardo, Villeneuve, Nathalie, Nabbout, Rima

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First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB , Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation von Dubot, Patricia, Sabourdy, Frédérique, Plat, Geneviève, Jubert, Charlotte, Cancès, Claude, Broué, Pierre, Touati, Guy, Levade, Thierry

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Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study von Chabanon, Aurélie, Seferian, Andreea Mihaela, Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, De Waele, Liesbeth, Cuisset, Jean-Marie, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Gilabert, Stéphanie, Hogrel, Jean-Yves, Baudin, Pierre-Yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda Pax, Hellbach, Nicole, Seabrook, Timothy, Toledano, Elie, Annoussamy, Mélanie, Servais, Laurent

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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome von Rice, Gillian I, Meyzer, Candice, Bouazza, Naïm, Hully, Marie, Boddaert, Nathalie, Semeraro, Michaela, Zeef, Leo A.H, Rozenberg, Flore, Bondet, Vincent, Duffy, Darragh, Llibre, Alba, Baek, Jinmi, Sambe, Mame N, Henry, Elodie, Jolaine, Valerie, Barnerias, Christine, Barth, Magalie, Belot, Alexandre, Cances, Claude, Debray, François-Guillaume, Doummar, Diane, Frémond, Marie-Louise, Kitabayashi, Naoki, Lepelley, Alice, Levrat, Virginie, Melki, Isabelle, Meyer, Pierre, Nougues, Marie-Christine, Renaldo, Florence, Rodero, Mathieu P, Rodriguez, Diana, Roubertie, Agathe, Seabra, Luis, Uggenti, Carolina, Abdoul, Hendy, Treluyer, Jean-Marc, Desguerre, Isabelle, Blanche, Stéphane, Crow, Yanick J

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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly von Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, Chelly, Jamel

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Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes von Hully, Marie, Lo Barco, Tommaso, Kaminska, Anna, Barcia, Giulia, Cances, Claude, Mignot, Cyril, Desguerre, Isabelle, Garcelon, Nicolas, Kabashi, Edor, Nabbout, Rima

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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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Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study von Freihuber, Cécile, Dahmani-Rabehi, Bahia, Brassier, Anaïs, Broué, Pierre, Cances, Claude, Chabrol, Brigitte, Eyer, Didier, Labarthe, François, Latour, Philippe, Levade, Thierry, Pichard, Samia, Sevin, Caroline, Vanier, Marie T, Héron, Bénédicte

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Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study von Cances, Claude, Vlodavets, Dmitry, Comi, Giacomo Pietro, Masson, Riccardo, Mazurkiewicz-BeÅdziÅska, Maria, Saito, Kayoko, Zanoteli, Edmar, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Gravestock, Isaac, Hoffart, Janine, Scalco, Renata S, Darras, Basil T, Alberti, Katia, Baranello, Giovanni, Barisic, Nina, Brolatti, Noemi, Bruno, Claudio, Deconinck, Nicolas, Vos, Elke, De Waele, Liesbeth, Dosi, Claudia, Engelbrekt, Amanda, Goemans, Nathalie, Govoni, Alessandra, Haginoya, Kazuhiro, Kotulska-Jozwiak, Katarzyna, Goff, Laure Le, Levine, Alexis, Manel, Saidi, Mastella, Chiara, Mauri, Eleonora, Meneri, Megi, Moroni, Isabella, Pierzchlewicz, Katarzyna, Portefaix, Aurelie, Prufer, Alexandra, Rauso, Myriam, Schembri, Veronica, Sicolo, Mariangela, Tahon, Valentine, Tomas, Josipa, Vincent-Genod, Dominique, Vuillerot, Carole, Yotsumata, Kazuyuki

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Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study von Annoussamy, Mélanie, Seferian, Andreea M., Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, De Waele, Liesbeth, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Lilien, Charlotte, Hogrel, Jean‐Yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda, Gorni, Ksenija, Ly‐Le Moal, Myriam, Hellbach, Nicole, Seabrook, Timothy, Czech, Christian, Hermosilla, Ricardo, Servais, Laurent

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Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients von Meyer, Pierre, Notarnicola, Cecile, Meli, Albano C., Matecki, Stefan, Hugon, Gerald, Salvador, Jeremy, Khalil, Mirna, Feasson, Leonard, Cances, Claude, Cottalorda, Jerome, Desguerre, Isabelle, Cuisset, Jean-Marie, Sabouraud, Pascal, Lacampagne, Alain, Chevassus, Hugues, Rivier, Francois, Carnac, Gilles

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Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv) von Wallach, Elisabeth, Ehlinger, Virginie, Biotteau, Maelle, Walther-Louvier, Ulrike, Péréon, Yann, Vuillerot, Carole, Fontaine, Stephanie, Sabouraud, Pascal, Espil-Taris, Caroline, Cuisset, Jean-Marie, Laugel, Vincent, Baudou, Eloïse, Arnaud, Catherine, Cances, Claude

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ADHD in childhood epilepsy: Clinical determinants of severity and of the response to methylphenidate von Rheims, Sylvain, Herbillon, Vania, Villeneuve, Nathalie, Auvin, Stéphane, Napuri, Silvia, Cances, Claude, Berquin, Patrick, Castelneau, Pierre, Nguyen The Tich, Sylvie, Villega, Frédéric, Isnard, Hervé, Nabbout, Rima, Gaillard, Ségolène, Mercier, Catherine, Kassai, Behrouz, Arzimanoglou, Alexis, Pedespan, Jean‐Michel, Bellescize, Julitta, Keo‐Kosal, Pascale, Panagiotakaki, Eleni, Montavont, Alexandra, Ostrowski‐Coste, Karine, Milh, Mathieu, Chiron, Catherine, Chemaly, Nicole, Bellavoine, Vanina, Barthez, Marie‐Anne

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Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature von Siegfried, Aurore, Cances, Claude, Denuelle, Marie, Loukh, Najat, Tauber, Maïté, Cavé, Hélène, Delisle, Marie‐Bernadette

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Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen von Le Goff, Laure, Seferian, Andreea, Phelep, Aurelie, Rippert, Pascal, Mathieu, Marie-Laure, Cances, Claude, de Lattre, Capucine, Durigneux, Julien, Gousse, Gaelle, Vincent-Genod, Dominique, Ribault, Shams, Gomez Garcia de la Banda, Marta, Quijano-Roy, Susana, Sarret, Catherine, Servais, Laurent, Vuillerot, Carole

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Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study von D'Onofrio, Gianluca, Kuchenbuch, Mathieu, Hachon-Le Camus, Caroline, Desnous, Béatrice, Staath, Véronique, Napuri, Sylvia, Ville, Dorothée, Pedespan, Jean-Michel, Lépine, Anne, Cances, Claude, de Saint-Martin, Anne, Teng, Théo, Chemaly, Nicole, Milh, Mathieu, Villeneuve, Nathalie, Nabbout, Rima

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The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability von Onnée, Marion, Bénézit, Audrey, Bastu, Sultan, Nadaj-Pakleza, Aleksandra, Lannes, Béatrice, Ader, Flavie, Thèze, Corinne, Cintas, Pascal, Cances, Claude, Carlier, Robert-Yves, Metay, Corinne, Cossée, Mireille, Malfatti, Edoardo

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Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient von Plaisancié, Julie, Kleinfinger, Pascale, Cances, Claude, Bazin, Anne, Julia, Sophie, Trost, Detlef, Lohmann, Laurence, Vigouroux, Adeline

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Reading abilities and cognitive functions of children with epilepsy: Influence of epileptic syndrome von Chaix, Yves, Laguitton, Virginie, Lauwers-Cancès, Valérie, Daquin, Géraldine, Cancès, Claude, Démonet, Jean-François, Villeneuve, Nathalie

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