Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome von Dimassi, S., Labalme, A., Ville, D., Calender, A., Mignot, C., Boutry-Kryza, N., de Bellescize, J., Rivier-Ringenbach, C., Bourel-Ponchel, E., Cheillan, D., Simonet, T., Maincent, K., Rossi, M., Till, M., Mougou-Zerelli, S., Edery, P., Saad, A., Heron, D., des Portes, V., Sanlaville, D., Lesca, G.

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STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes von Gokce-Samar, Z., de Bellescize, J., Arzimanoglou, A., Putoux, A., Chatron, N., Lesca, G., Portes, V. des

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A french adaptation of the vineland adaptive behavior scales VABS-II von Touil, N., Riche, B., Portes, V. Des, Mardirossian, S., Gaillard, S., Rabilloud, M., Kassai, B., Sonie, S.

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Role of multidimensional evaluations in the support of school trajectories of children with mild to moderate intellectual disability von Touil, N., Curie, A., Reymond, M.-P., Subtil, F., Roche, S., Gaillard, S., Kassai, B., Portes, V. Des

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Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis von Guibaud, L., des Portes, V.

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Abnormal Sylvian fissure on prenatal cerebral imaging: significance and correlation with neuropathological and postnatal data von Guibaud, L., Selleret, L., Larroche, J. C., Buenerd, A., Alias, F., Gaucherand, P., Des Portes, V., Pracros, J.‐P.

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Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifica... von Saillour, Y, Zanni, G, Des Portes, V, Heron, D, Guibaud, L, Iba-Zizen, M T, Pedespan, J L, Poirier, K, Castelnau, L, Julien, C, Franconnet, C, Bonthron, D, Porteous, M E, Chelly, J, Bienvenu, T

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High frequency of creatine deficiency syndromes in patients with unexplained mental retardation von LION-FRANCOIS, L, CHEILLAN, D, JAKOBS, C, SALOMONS, G. S, DES PORTES, V, PITELET, G, ACQUAVIVA-BOURDAIN, C, BUSSY, G, COTTON, F, GUIBAUD, L, GERARD, D, RIVIER, C, VIANEY-SABAN, C

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Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case von Mellerio, C., Marignier, S., Roth, P., Gaucherand, P., des Portes, V., Pracros, J. P., Guibaud, L.

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Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH) von des Portes, Vincent, Francis, Fiona, Pinard, Jean-Marc, Desguerre, Isabelle, Moutard, Marie-Laure, Snoeck, Irina, Meiners, Linda C., Capron, François, Cusmai, Raffaella, Ricci, Stefano, Motte, Jacques, Echenne, Bernard, Ponsot, Gérard, Dulac, Olivier, Chelly, Jamel, Beldjord, Cherif

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Certainty of genuine treatment increases drug responses among intellectually disabled patients von Jensen, Karin B, Kirsch, Irving, Pontén, Moa, Rosén, Annelie, Yang, Kathy, Gollub, Randy L, des Portes, Vincent, Kaptchuk, Ted J, Curie, Aurore

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Neurofibromatose de type 2 : différence inter-générationnelle d’expression génétique et clinique von Drouet, A., Le Moigne, F., Salamé, D., Quesnel, L., Motolese, C., des Portes, V., Guilloton, L., Pinson, S.

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Developmental approach of executive functions: From infancy to adolescence von Fourneret, P, des Portes, V

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OP14.07: Outcomes of fetuses with small cerebellum on second and third trimester ultrasonography von Atallah, A., Guibaud, L., Duchemin, G., des Portes, V., Massoud, M.

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Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: A new treatable disorder von LION-FRANCOIS, L, MIGNOT, C, DES PORTES, V, FONTAINE, B, VICART, S, MANEL, V, STERNBERG, D, LANDRIEU, P, LESCA, G, BROUSSOLLE, E, BILLETTE DE VILLEMEUR, T, NAPURI, S

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Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification von Germanaud, D., Lefèvre, J., Fischer, C., Bintner, M., Curie, A., des Portes, V., Eliez, S., Elmaleh-Bergès, M., Lamblin, D., Passemard, S., Operto, G., Schaer, M., Verloes, A., Toro, R., Mangin, J.F., Hertz-Pannier, L.

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Fragile X syndrome: economic burden and health‐related quality of life of patients and caregivers in France von Chevreul, K., Berg Brigham, K., Brunn, M., Portes, V.

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Absence of T378N mutation of ATP1A2 gene in five patients with alternating hemiplegia of childhood von Boileau, S, Vuillaume, I, Sablonnière, B, Marignier, S, Des Portes, V, Vallée, L, Auvin, S

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Maladie de Wilson, penser aux formes neurologiques chez l’enfant von Wagner, S., Brunet, A.-S., Bost, M., Lachaux, A., Broussolle, E., Des Portes, V., Lion-François, L.

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Pineal region tumors: Clinical symptoms and syndromes von Rousselle, C, des Portes, V, Berlier, P, Mottolese, C

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