Not logged in A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies Heron, Delphine; Gerasimenko, Anna; Frugere, Lisa; Ducourneau, Jade; Rossi, Capucine; Nava, Caroline; De Sainte-Agathe, Jean-Madeleine; Mignot, Cyril; Lehalle, Daphne; Grotto, Sarah; El-Khattabi, Laila; Nguyen, Toan; Garel, Catherine; Blondiaux, Eleonore; Milh, Mathieu; Desnous, Beatrice; Girard, Nadine; des Portes, Vincent; Guibaud, Laurent; Sabatier, Isabelle; Patat, Olivier; Julia, Sophie; Benachi, Alexandra; Vivanti, Alexandre; Picone, Olivier; Guet, Agnes; Nizon, Mathilde; Vincent, Marie; Conrad, Solene; Le Vaillant, Claudine; Billette De Villemeur, Thierry; Moutton, Sebastien; Tsatsaris, Vassilis; Guilbaud, Lucie; Jouannic, Jean-Marie; Valence, Stephanie; Keren, Boris; Heide, Solveig Share Save
STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia Pina, Diane; Roubertie, Agathe; Spitz, Marie-Aude; Ravelli, Claudia; Bahi-Buisson, Nadia; Gheurbi, Farha; Buchy, Marion; Loppinet, Thomas; Chemaly-Perin, Nicole; Nougues, Marie-Christine; Heron, Benedicte; Lopez, Regis; Anheim, Mathieu; Fradin, Melanie; Cances, Claude; Avez-Couturier, Justine; Dalmon, Fabienne; Lesca, Gaetan; Des Portes, Vincent; Lion-Francois, Laurence Share Save
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8) Curie, Aurore; Lion-Francois, Laurence; Valayannopoulos, Vassili; Perreton, Nathalie; Gavanon, Marie; Touil, Nathalie; Brun-Laurisse, Amandine; Gheurbi, Fahra; Buchy, Marion; Halep, Hulya; Cheillan, David; Mercier, Catherine; Brassier, Anais; Desnous, Beatrice; Kassai, Behrouz; De Lonlay, Pascale; Des Portes, Vincent Share Save
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene Panagiotakaki, Eleni; Tiziano, Francesco D.; Mikati, Mohamad A.; Vijfhuizen, Lisanne S.; Nicole, Sophie; Lesca, Gaetan; Abiusi, Emanuela; Novelli, Agnese; Di Pietro, Lorena; Harder, Aster V. E.; Walley, Nicole M.; De Grandis, Elisa; Poulat, Anne-Lise; Portes, Vincent Des; Lepine, Anne; Nassogne, Marie-Cecile; Arzimanoglou, Alexis; Vavassori, Rosaria; Koenderink, Jan; Thompson, Christopher H.; George, Alfred L., Jr.; Gurrieri, Fiorella; van den Maagdenberg, Arn M. J. M.; Heinzen, Erin L. Share Save
Further characterisation of ARX-related disorders in females due to inherited or de novo variants Gras, Mathilde; Heide, Solveig; Keren, Boris; Valence, Stephanie; Garel, Catherine; Whalen, Sandra; Jansen, Anna C.; Keymolen, Kathelijn; Stouffs, Katrien; Jennesson, Melanie; Poirsier, Celine; Lesca, Gaetan; Depienne, Christel; Nava, Caroline; Rastetter, Agnes; Curie, Aurore; Cuisset, Laurence; Des Portes, Vincent; Milh, Mathieu; Charles, Perrine; Mignot, Cyril; Heron, Delphine Share Save
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms Ragnarsson, Lotten; Zhang, Zihan; Das, Sooraj S.; Tran, Poanna; Andersson, Asa; des Portes, Vincent; Altuzarra, Cecilia Desmettre; Remerand, Ganaelle; Labalme, Audrey; Chatron, Nicolas; Sanlaville, Damien; Lesca, Gaetan; Anggono, Victor; Vetter, Irina; Keramidas, Angelo Share Save
New insights into CC2D2A-related Joubert syndrome Harion, Madeleine; Qebibo, Leila; Riquet, Audrey; Rougeot, Christelle; Afenjar, Alexandra; Garel, Catherine; Louha, Malek; Lacaze, Emmanuelle; Audic-Gerard, Frederique; Barth, Magali; Berquin, Patrick; Bonneau, Dominique; Bourdain, Frederic; Busa, Tiffany; Colin, Estelle; Cuisset, Jean-Marie; Des Portes, Vincent; Dorison, Nathalie; Francannet, Christine; Heron, Benedicte; Laroche, Cecile; Lebrun, Marine; Metreau, Julia; Odent, Sylvie; Pasquier, Laurent; Trujillo, Yaumara Perdomo; Perrin, Laurine; Pinson, Lucile; Rivier, Francois; Sigaudy, Sabine; Thauvin-Robinet, Christel; Louvier, Ulrike Walther; Labayle, Olivier; Rodriguez, Diana; Valence, Stephanie; Burglen, Lydie Share Save
PIGN encephalopathy: Characterizing the epileptology Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. Share Save
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum Bonardi, Claudia M.; Heyne, Henrike O.; Fiannacca, Martina; Fitzgerald, Mark P.; Gardella, Elena; Gunning, Boudewijn; Olofsson, Kern; Lesca, Gaetan; Verbeek, Nienke; Stamberger, Hannah; Striano, Pasquale; Zara, Federico; Mancardi, Maria M.; Nava, Caroline; Syrbe, Steffen; Buono, Salvatore; Baulac, Stephanie; Coppola, Antonietta; Weckhuysen, Sarah; Schoonjans, An-Sofie; Ceulemans, Berten; Sarret, Catherine; Baumgartner, Tobias; Muhle, Hiltrud; des Portes, Vincent; Toulouse, Joseph; Nougues, Marie-Christine; Rossi, Massimiliano; Demarquay, Genevieve; Ville, Dorothee; Hirsch, Edouard; Maurey, Helene; Willems, Marjolaine; de Bellescize, Julitta; Altuzarra, Cecilia Desmettre; Villeneuve, Nathalie; Bartolomei, Fabrice; Picard, Fabienne; Hornemann, Frauke; Koolen, David A.; Kroes, Hester Y.; Reale, Chiara; Fenger, Christina D.; Tan, Wen-Hann; Dibbens, Leanne; Bearden, David R.; Moller, Rikke S.; Rubboli, Guido Share Save
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation Heide, Solveig; Spentchian, Myrtille; Valence, Stephanie; Buratti, Julien; Mlt, Corinne Mach; Lejeune, Elodie; Olin, Valerie; Massimello, Marta; Lehalle, Daphne; Mouthon, Linda; Whalen, Sandra; Faudet, Anne; Mignot, Cyril; Garel, Catherine; Blondiaux, Eleonore; Lefebvre, Mathilde; Quenum-Miraillet, Genevieve; Chantot-Bastaraud, Sandra; Milh, Mathieu; Bretelle, Florence; des Portes, Vincent; Guibaud, Laurent; Putoux, Audrey; Tsatsaris, Vassili; Spodenkiewic, Marta; Layet, Valerie; Dard, Rodolphe; Mandelbrot, Laurent; Guet, Agnes; Moutton, Sebastien; Gorce, Magali; Nizon, Mathilde; Vincent, Marie; Beneteau, Claire; Rocchisanni, Marie-Amelie; Benachi, Alexandra; Saada, Julien; Attie-Bitach, Tania; Guilbaud, Lucie; Maurice, Paul; Friszer, Stephanie; Jouannic, Jean-Marie; de Villemeur, Thierry Billette; Moutard, Marie-Laure; Keren, Boris; Heron, Delphine Share Save
Movement disorders in patients with alternating hemiplegia: Soft and stiff at the same time Panagiotakaki, Eleni; Doummar, Diane; Nogue, Erika; Nagot, Nicolas; Lesca, Gaetan; Riant, Florence; Nicole, Sophie; Delaygue, Charlene; Barthez, Marie Anne; Nassogne, Marie Cecile; Dusser, Anne; Vallee, Louis; Billette, Thierry; Bourgeois, Marie; Ioos, Christine; Gitiaux, Cyril; Laroche, Cecile; Milh, Mathieu; Portes, Vincent Des; Arzimanoglou, Alexis; Roubertie, Agathe Share Save
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism Kim, Hyung-Goo; Rosenfeld, Jill A.; Scott, Daryl A.; Benedicte, Gerard; Labonne, Jonathan D.; Brown, Jason; McGuire, Marianne; Mahida, Sonal; Naidu, Sakkubai; Gutierrez, Jacqueline; Lesca, Gaetan; des Portes, Vincent; Bruel, Ange-Line; Sorlin, Arthur; Xia, Fan; Capri, Yline; Muller, Eric; McKnight, Dianalee; Torti, Erin; Rueschendorf, Franz; Hummel, Oliver; Islam, Zeyaul; Kolatkar, Prasanna R.; Layman, Lawrence C.; Ryu, Duchwan; Kong, Il-Keun; Madan-Khetarpal, Suneeta; Kim, Cheol-Hee Share Save
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP Kuchenbuch, Mathieu; Barcia, Giulia; Chemaly, Nicole; Carme, Emilie; Roubertie, Agathe; Gibaud, Marc; Van Bogaert, Patrick; de Saint Martin, Anne; Hirsch, Edouard; Dubois, Fanny; Sarret, Catherine; Tich, Sylvie Nguyen The; Laroche, Cecile; des Portes, Vincent; de Villemeur, Thierry Billette; Barthez, Marie-Anne; Auvin, Stephane; Bahi-Buisson, Nadia; Desguerre, Isabelle; Kaminska, Anna; Benquet, Pascal; Nabbout, Rima Share Save
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations Remeran, Ganaelle; Boespflug-Tanguy, Odile; Tonduti, Davide; Touraine, Enaud; Rodriguez, Diana; Curie, Aurore; Perreton, Nathalie; Des Portes, Vincent; Sarret, Catherine; Afenjar, Alexandra; Burglen, Lydie; Castellotti, Barbara; Cuntz, Danielle; Desguerre, Isabelle; Doummar, Diane; Estienne, Margherita; Freri, Elena; Heron, Delphine; Moutard, Marie-Laure; Novara, Francesca; Orcesi, Simona; Saletti, Veronica; Zibordi, Federica Share Save
Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents Hagerman, Randi; Jacquemont, Sebastien; Berry-Kravis, Elizabeth; Des Portes, Vincent; Stanfield, Andrew; Koumaras, Barbara; Rosenkranz, Gerd; Murgia, Alessandra; Wolf, Christian; Apostol, George; von Raison, Florian Share Save
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant Chatron, Nicolas; Moller, Rikke S.; Champaigne, Neena L.; Schneider, Amy L.; Kuechler, Alma; Labalme, Audrey; Simonet, Thomas; Baggett, Lauren; Bardel, Claire; Kamsteeg, Erik-Jan; Pfundt, Rolph; Romano, Corrado; Aronsson, Johan; Alberti, Antonino; Vinci, Mirella; Miranda, Maria J.; Lacroix, Amy; Marjanovic, Dragan; des Portes, Vincent; Edery, Patrick; Wieczorek, Dagmar; Gardella, Elena; Scheffer, Ingrid E.; Mefford, Heather; Sanlaville, Damien; Carvill, Gemma L.; Lesca, Gaetan Share Save
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christele; Julia, Sophie; Sarret, Catherine; Remerand, Ganaelle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, Odile; David, Albert; Isidor, Bertrand; Vigneron, Jacqueline; Leheup, Bruno; Lambert, Laetitia; Philippe, Christophe; Beri-Dexheimer, Mylene; Cuisset, Jean-Marie; Andrieux, Joris; Plessis, Ghislaine; Toutain, Annick; Guibaud, Laurent; Cormier-Daire, Valerie; Rio, Marlene; Bonnefont, Jean-Paul; Echenne, Bernard; Journel, Hubert; Burglen, Lydie; Chantot-Bastaraud, Sandrine; Bienvenu, Thierry; Baumann, Clarisse; Perrin, Laurence; Drunat, Severine; Jouk, Pierre-Simon; Dieterich, Klaus; Devillard, Francoise; Lacombe, Didier; Philip, Nicole; Sigaudy, Sabine; Moncla, Anne; Missirian, Chantal; Badens, Catherine; Perreton, Nathalie; Thauvin-Robinet, Christel; AChro-Puce, Reseau; Pedespan, Jean-Michel; Rooryck, Caroline; Goizet, Cyril; Vincent-Delorme, Catherine; Duban-Bedu, Benedicte; Bahi-Buisson, Nadia; Afenjar, Alexandra; Maincent, Kim; Heron, Delphine; Alessandri, Jean-Luc; Martin-Coignard, Dominique; Lesca, Gaetan; Rossi, Massimiliano; Raynaud, Martine; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Coutton, Charles; Satre, Veronique; Le Caignec, Cedric; Malan, Valerie; Romana, Serge; Keren, Boris; Tabet, Anne-Claude; Kremer, Valerie; Scheidecker, Sophie; Vigouroux, Adeline; Lackmy-Port-Lis, Marilyn; Sanlaville, Damien; Till, Marianne; Carneiro, Maryline; Gilbert-Dussardier, Brigitte; Willems, Marjolaine; Van Esch, Hilde; Des Portes, Vincent; El Chehadeh, Salima Share Save
Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping? Curie, Aurore; Friocourt, Gaelle; des Portes, Vincent; Roy, Alice; Nazir, Tatjana; Brun, Amandine; Cheylus, Anne; Marcorelles, Pascale; Retzepi, Kalliroi; Maleki, Nasim; Bussy, Gerald; Paulignan, Yves; Reboul, Anne; Ibarrola, Danielle; Kong, Jian; Hadjikhani, Nouchine; Laquerriere, Annie; Gollub, Randy L. Share Save
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome Berry-Kravis, Elizabeth M.; Lindemann, Lothar; Jonch, Aia E.; Apostol, George; Bear, Mark F.; Carpenter, Randall L.; Crawley, Jacqueline N.; Curie, Aurore; Des Portes, Vincent; Hossain, Farah; Gasparini, Fabrizio; Gomez-Mancilla, Baltazar; Hessl, David; Loth, Eva; Scharf, Sebastian H.; Wang, Paul P.; Von Raison, Florian; Hagerman, Randi; Spooren, Will; Jacquemont, Sebastien Share Save
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