Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures von Denis, Julien, Villeneuve, Nathalie, Cacciagli, Pierre, Mignon‐Ravix, Cecile, Lacoste, Caroline, Lefranc, Jeremie, Napuri, Sylvia, Damaj, Lena, Villega, Frederic, Pedespan, Jean‐Michel, Moutton, Sebastien, Mignot, Cyril, Doummar, Diane, Lion‐François, Laurence, Gataullina, Svetlana, Dulac, Olivier, Martin, Melanie, Gueden, Sophie, Lesca, Gaetan, Julia, Sophie, Cances, Claude, Journel, Hubert, Altuzarra, Cecilia, Ben Zeev, Bruria, Afenjar, Alexandra, Barth, Magalie, Villard, Laurent, Milh, Mathieu

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Antiseizure effect of MEK inhibitor in a child with neurofibromatosis type 1—Developmental and epileptic encephalopathy and optic pathway glioma von Barrière, Sarah, Faure‐Conter, Cécile, Leblond, Pierre, Philippe, Michael, Portes, Vincent, Lion François, Laurence, Bellescize, Julitta, Sabatier, Isabelle

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Neonatal tremor episodes and hyperekplexia‐like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy von Pons, Linda, Lesca, Gaëtan, Sanlaville, Damien, Chatron, Nicolas, Labalme, Audrey, Manel, Véronique, Arzimanoglou, Alexis, de Bellescize, Julitta, Lion‐François, Laurence

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Cognitive Abilities of Children With Neurological and Liver Forms of Wilson Disease von Favre, Emilie, Lion‐François, Laurence, Canton, Marie, Vanlemmens, Claire, Bonneton, Marjorie, Bouillet, Lise, Brunet, Anne‐Sophie, Lachaux, Alain

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Mechanisms underlying a life‐threatening skeletal muscle Na+ channel disorder von Simkin, Dina, Léna, Isabelle, Landrieu, Pierre, Lion‐François, Laurence, Sternberg, Damien, Fontaine, Bertrand, Bendahhou, Saïd

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Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ( SLC6A8 ) von Curie, Aurore, Lion-François, Laurence, Valayannopoulos, Vassili, Perreton, Nathalie, Gavanon, Marie, Touil, Nathalie, Brun-Laurisse, Amandine, Gheurbi, Fahra, Buchy, Marion, Halep, Hulya, Cheillan, David, Mercier, Catherine, Brassier, Anaïs, Desnous, Béatrice, Kassai, Behrouz, De Lonlay, Pascale, Des Portes, Vincent

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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms von Cheillan, David, Joncquel-Chevalier Curt, Marie, Briand, Gilbert, Salomons, Gajja S, Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Portes, Vincent Des, Chabli, Allel, Valayannopoulos, Vassili, Benoist, Jean-François, Pinard, Jean-Marc, Simard, Gilles, Douay, Olivier, Deiva, Kumaran, Afenjar, Alexandra, Héron, Delphine, Rivier, François, Chabrol, Brigitte, Prieur, Fabienne, Cartault, François, Pitelet, Gaëlle, Goldenberg, Alice, Bekri, Soumeya, Gerard, Marion, Delorme, Richard, Tardieu, Marc, Porchet, Nicole, Vianey-Saban, Christine, Vamecq, Joseph

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Liver transplantation as a rescue therapy for severe neurologic forms of Wilson disease von Poujois, Aurélia, Sobesky, Rodolphe, Meissner, Wassilios G., Brunet, Anne-Sophie, Broussolle, Emmanuel, Laurencin, Chloé, Lion-François, Laurence, Guillaud, Olivier, Lachaux, Alain, Maillot, François, Belin, Jérémie, Salamé, Ephrem, Vanlemmens, Claire, Heyd, Bruno, Bellesme, Céline, Habes, Dalila, Bureau, Christophe, Ory-Magne, Fabienne, Chaine, Pascal, Trocello, Jean-Marc, Cherqui, Daniel, Samuel, Didier, de Ledinghen, Victor, Duclos-Vallée, Jean-Charles, Woimant, France

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Increased diagnostic yield in complex dystonia through exome sequencing von Wirth, Thomas, Tranchant, Christine, Drouot, Nathalie, Keren, Boris, Mignot, Cyril, Cif, Laura, Lefaucheur, Romain, Lion-François, Laurence, Méneret, Aurélie, Gras, Domitille, Roze, Emmanuel, Laroche, Cécile, Burbaud, Pierre, Bannier, Stéphanie, Lagha-Boukbiza, Ouhaid, Spitz, Marie-Aude, Laugel, Vincent, Bereau, Matthieu, Ollivier, Emmanuelle, Nitschke, Patrick, Doummar, Diane, Rudolf, Gabrielle, Anheim, Mathieu, Chelly, Jamel

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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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Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France von Couchonnal, Eduardo, Lion-François, Laurence, Guillaud, Olivier, Habes, Dalila, Debray, Dominique, Lamireau, Thierry, Broué, Pierre, Fabre, Alexandre, Vanlemmens, Claire, Sobesky, Rodolphe, Gottrand, Frederic, Bridoux-Henno, Laure, Dumortier, Jérôme, Belmalih, Abdelouahed, Poujois, Aurelia, Jacquemin, Emmanuel, Brunet, Anne Sophie, Bost, Muriel, Lachaux, Alain

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Cognitive impairment in children with CACNA1A mutations von Humbertclaude, Veronique, Riant, Florence, Krams, Benjamin, Zimmermann, Valerie, Nagot, Nicolas, Annequin, Daniel, Echenne, Bernard, Tournier‐Lasserve, Elisabeth, Roubertie, Agathe, Bonnemains, Chrystelle, Chabrier, Stéphane, Cheuret, Emmanuel, Doummar, Diane, Dubois, Fanny, Kossorotoff, Manoelle, Leboucq, Nicolas, Leydet, Julie, Lion‐François, Laurence, Meyer, Pierre, Milh, Mathieu, Napuri, Silvia, Nguyen, Marie‐Ange, Nogue, Erika, Panagiotakaki, Eleni, Préclaire, Elodie, Rivier, François, Saint Martin, Anne, Sanchez, Stéphanie, Sarret, Catherine, Spitz, Marie‐Aude, Tardieu, Marc, Tourniaire, Barbara, Walther‐Louvier, Ulrike

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The blood copper isotopic composition is a prognostic indicator of the hepatic injury in Wilson disease von Lamboux, Aline, Couchonnal-Bedoya, Eduardo, Guillaud, Olivier, Laurencin, Chloé, Lion-François, Laurence, Belmalih, Abdelouahed, Mintz, Elisabeth, Brun, Virginie, Bost, Muriel, Lachaux, Alain, Balter, Vincent

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Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene von Gras, Domitille, Jonard, Laurence, Roze, Emmanuel, Chantot-Bastaraud, Sandra, Koht, Jeanette, Motte, Jacques, Rodriguez, Diana, Louha, Malek, Caubel, Isabelle, Kemlin, Isabelle, Lion-François, Laurence, Goizet, Cyril, Guillot, Loic, Moutard, Marie-Laure, Epaud, Ralph, Héron, Bénédicte, Charles, Perrine, Tallot, Marilyn, Camuzat, Agnès, Durr, Alexandra, Polak, Michel, Devos, David, Sanlaville, Damien, Vuillaume, Isabelle, Billette de Villemeur, Thierry, Vidailhet, Marie, Doummar, Diane

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Maintenance therapy simplification using a single daily dose: A preliminary real-life feasibility study in patients with Wilson disease von Guillaud, Olivier, Woimant, France, Couchonnal, Eduardo, Dumortier, Jérôme, Laurencin, Chloe, Lion-François, Laurence, Belmalih, Abdelouahed, Bost, Muriel, Morvan, Erwan, Oussedik-Djebrani, Nouzha, Lachaux, Alain, Poujois, Aurélia

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Correlation between pre- or postoperative MRI findings and cerebellar sequelae in patients with medulloblastomas von Szathmari, Alexandru, Thiesse, Philippe, Galand-desmé, Sophie, Mottolese, Carmine, Bret, Philippe, Jouanneau, Emmanuel, Guyotat, Jacques, Lion-François, Laurence, Frappaz, Didier

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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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Attention and Executive Disorders in Neurofibromatosis 1: Comparison Between NF1 With ADHD Symptomatology (NF1 + ADHD) and ADHD Per Se von Lion-François, Laurence, Herbillon, Vania, Peyric, Emeline, Mercier, Catherine, Gérard, Daniel, Ginhoux, Tiphanie, Coutinho, Virginie, Kemlin, Isabelle, Kassai, Behrouz, Desportes, Vincent, Michael, George A.

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CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period von Garel, Pauline, Lesca, Gaetan, Ville, Dorothée, Poulat, Anne-Lise, Chatron, Nicolas, Sanlaville, Damien, Des Portes, Vincent, Arzimanoglou, Alexis, Lion-François, Laurence

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ATP7B variant spectrum in a French pediatric Wilson disease cohort von Couchonnal, Eduardo, Bouchard, Sophie, Sandahl, Thomas Damgaard, Pagan, Cecile, Lion-François, Laurence, Guillaud, Olivier, Habes, Dalila, Debray, Dominique, Lamireau, Thierry, Broué, Pierre, Fabre, Alexandre, Vanlemmens, Claire, Sobesky, Rodolphe, Gottrand, Frederic, Bridoux-Henno, Laure, Belmalih, Abdelouahed, Poujois, Aurelia, Brunet, Anne Sophie, Lachaux, Alain, Bost, Muriel

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