Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures von Zweier, Markus, Begemann, Anaïs, McWalter, Kirsty, Cho, Megan T, Abela, Lucia, Banka, Siddharth, Behring, Bettina, Berger, Andrea, Brown, Chester W, Carneiro, Maryline, Chen, Jiani, Cooper, Gregory M, Finnila, Candice R, Guillen Sacoto, Maria J, Henderson, Alex, Hüffmeier, Ulrike, Joset, Pascal, Kerr, Bronwyn, Lesca, Gaetan, Leszinski, Gloria S, McDermott, John Henry, Meltzer, Meira R, Monaghan, Kristin G, Mostafavi, Roya, Õunap, Katrin, Plecko, Barbara, Powis, Zöe, Purcarin, Gabriela, Reimand, Tiia, Riedhammer, Korbinian M, Schreiber, John M, Sirsi, Deepa, Wierenga, Klaas J, Wojcik, Monica H, Papuc, Sorina M, Steindl, Katharina, Sticht, Heinrich, Rauch, Anita

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Defining the phenotype of FHF1 developmental and epileptic encephalopathy von Trivisano, Marina, Ferretti, Alessandro, Bebin, Elizabeth, Huh, Linda, Lesca, Gaetan, Siekierska, Aleksandra, Takeguchi, Ryo, Carneiro, Maryline, De Palma, Luca, Guella, Ilaria, Haginoya, Kazuhiro, Shi, Ruo Ming, Kikuchi, Atsuo, Kobayashi, Tomoko, Jung, Julien, Lagae, Lieven, Milh, Mathieu, Mathieu, Marie L., Minassian, Berge A., Novelli, Antonio, Pietrafusa, Nicola, Takeshita, Eri, Tartaglia, Marco, Terracciano, Alessandra, Thompson, Michelle L., Cooper, Gregory M., Vigevano, Federico, Villard, Laurent, Villeneuve, Nathalie, Buyse, Gunnar M., Demos, Michelle, Scheffer, Ingrid E., Specchio, Nicola

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Nevus anemicus in neurofibromatosis type 1: A potential new diagnostic criterion von Marque, Myriam, MD, Roubertie, Agathe, MD, Jaussent, Audrey, MD, Carneiro, Maryline, MD, Meunier, Laurent, MD, PhD, Guillot, Bernard, MD, Pinson, Lucile, MD, Pinson, Stéphane, MD, Bessis, Didier, MD

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Thrombose veineuse cérébrale de l’enfant von Carneiro, Maryline

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Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature von Alqahtani, Amerh Salem, Putoux, Audrey, Bonnet Dupeyron, Marie Noelle, Carneiro, Maryline, Lion‐Francois, Laurence, Rossi, Massimiliano, Tevissen, Hélène, Schluth Bolard, Caroline, Labalme, Audrey, Lesca, Gaetan, Till, Marianne, Edery, Patrick, Sanlaville, Damien

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MOG antibody-related disorders: common features and uncommon presentations von Cobo-Calvo, Álvaro, Ruiz, Anne, D’Indy, Hyacintha, Poulat, Anne-Lise, Carneiro, Maryline, Philippe, Nicolas, Durand-Dubief, Françoise, Deiva, Kumaran, Vukusic, Sandra, Desportes, Vincent, Marignier, Romain

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Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy von Rossi, Massimiliano, Chatron, Nicolas, Labalme, Audrey, Ville, Dorothée, Carneiro, Maryline, Edery, Patrick, des Portes, Vincent, Lemke, Johannes R, Sanlaville, Damien, Lesca, Gaetan

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A novel truncating variant p.(Arg297) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset von Cabet, Sara, Putoux, Audrey, Carneiro, Maryline, Labalme, Audrey, Sanlaville, Damien, Guibaud, Laurent, Lesca, Gaetan

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Description of a novel patient with the TRPM3 recurrent p.Val837Met variant von Gauthier, Lucas W, Chatron, Nicolas, Cabet, Sara, Labalme, Audrey, Carneiro, Maryline, Poirot, Isabelle, Delvert, Céline, Gleizal, Arnaud, Lesca, Gaetan, Putoux, Audrey

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Description of a novel patient with the TRPM3 recurrent p. Val837Met variant von Gauthier, Lucas W., Chatron, Nicolas, Cabet, Sara, Labalme, Audrey, Carneiro, Maryline, Poirot, Isabelle, Delvert, Celine, Gleizal, Arnaud, Lesca, Gaetan, Putoux, Audrey

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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics von Begemann, Anaïs, Sticht, Heinrich, Begtrup, Amber, Vitobello, Antonio, Faivre, Laurence, Banka, Siddharth, Alhaddad, Bader, Asadollahi, Reza, Becker, Jessica, Bierhals, Tatjana, Brown, Kathleen E., Bruel, Ange-Line, Brunet, Theresa, Carneiro, Maryline, Cremer, Kirsten, Day, Robert, Denommé-Pichon, Anne-Sophie, Dyment, Dave A., Engels, Hartmut, Fisher, Rachel, Goh, Elaine S., Hajianpour, M. J., Haertel, Lucia Ribeiro Machado, Hauer, Nadine, Hempel, Maja, Herget, Theresia, Johannsen, Jessika, Kraus, Cornelia, Le Guyader, Gwenaël, Lesca, Gaetan, Mau-Them, Frédéric Tran, McDermott, John Henry, McWalter, Kirsty, Meyer, Pierre, Õunap, Katrin, Popp, Bernt, Reimand, Tiia, Riedhammer, Korbinian M., Russo, Martina, Sadleir, Lynette G., Saenz, Margarita, Schiff, Manuel, Schuler, Elisabeth, Syrbe, Steffen, Van der Ven, Amelie Theresa, Verloes, Alain, Willems, Marjolaine, Zweier, Christiane, Steindl, Katharina, Zweier, Markus, Rauch, Anita

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Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort von Blanchard, Gaelle, Lafforgue, Marie-Pierre, Lion-François, Laurence, Kemlin, Isabelle, Rodriguez, Diana, Castelnau, Pierre, Carneiro, Maryline, Meyer, Pierre, Rivier, François, Barbarot, Sébastien, Chaix, Yves

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Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention von Biotteau, Maëlle, Tournay, Elodie, Baudou, Eloise, Destarac, Sandrine, Iannuzzi, Stéphanie, Faure-Marie, Nathalie, Castelnau, Pierre, Schweitzer, Elisabeth, Rodriguez, Diana, Kemlin, Isabelle, Dorison, Nathalie, Rivier, François, Carneiro, Maryline, Preclaire, Elodie, Barbarot, Sebastien, Lauwers-Cancès, Valérie, Chaix, Yves

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Defining the phenotype of FHF1 developmental and epileptic encephalopathy von Trivisano, Marina, Ferretti, Alessandro, Bebin, Elizabeth, Huh, Linda, Lesca, Gaetan, Siekierska, Aleksandra, Takeguchi, Ryo, Carneiro, Maryline, De Palma, Luca, Guella, Ilaria, Haginoya, Kazuhiro, Shi, Ruo Ming, Kikuchi, Atsuo, Kobayashi, Tomoko, Jung, Julien, Lagae, Lieven, Milh, Mathieu, Mathieu, Marie L, Minassian, Berge A, Novelli, Antonio, Pietrafusa, Nicola, Takeshita, Eri, Tartaglia, Marco, Terracciano, Alessandra, Thompson, Michelle L, Cooper, Gregory M, Vigevano, Federico, Villard, Laurent, Villeneuve, Nathalie, Buyse, Gunnar M, Demos, Michelle, Scheffer, Ingrid E, Specchio, Nicola

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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 von Milh, Mathieu, Boutry-Kryza, Nadia, Sutera-Sardo, Julie, Mignot, Cyril, Auvin, Stéphane, Lacoste, Caroline, Villeneuve, Nathalie, Roubertie, Agathe, Heron, Bénédicte, Carneiro, Maryline, Kaminska, Anna, Altuzarra, Cécilia, Blanchard, Gaëlle, Ville, Dorothée, Barthez, Marie Anne, Heron, Delphine, Gras, Domitille, Afenjar, Alexandra, Dorison, Nathalie, Doummar, Dianne, Billette de Villemeur, Thierry, An, Isabelle, Jacquette, Aurélia, Charles, Perrine, Perrier, Julie, Isidor, Bertrand, Vercueil, Laurent, Chabrol, Brigitte, Badens, Catherine, Lesca, Gaétan, Villard, Laurent

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Vision du pédiatre von Rougeot-jung, Christelle, Poulat, Anne Lise, Decrette, Emilie, Moreau, Pauline, Sabatier, Isabelle, Carneiro, Maryline, portes, Vincent Des

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Acute-onset chorea, dystonia, and cardiac fibroelastoma in a child: A paraneoplastic association? von Bohrer, Sandrine, De La Villeon, Grégoire, Carneiro, Maryline, Fernandez, Carla, Garbi, Didier, Mace, Loïc, Milh, Mathieu, Guillaumont, Sophie, Echenne, Bernard, Honnorat, Jérôme, Roubertie, Agathe

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Hyperekplexia: Mouvements anormaux paroxystiques non épileptiques du nouveau-né à l'adolescent von CARNEIRO, Maryline, ROUBERTIE, Agathe

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L’accident ischémique transitoire : une urgence pédiatrique aussi von Hubert, Anna, Curie, Aurore, Sabatier, Isabelle, Poulat, Anne Lise, Carneiro, Maryline, Chabrier, Stéphane

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Transient ischemic attack: as well a paediatric emergency von Hubert, Anna, Curie, Aurore, Sabatier, Isabelle, Poulat, Anne Lise, Carneiro, Maryline, Chabrier, Stéphane

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