Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis von Teyssou, Elisa, Muratet, François, Amador, Maria-Del-Mar, Ferrien, Mélanie, Lautrette, Géraldine, Machat, Selma, Boillée, Séverine, Larmonier, Thierry, Saker, Safaa, Leguern, Eric, Cazeneuve, Cécile, Marie, Yannick, Guegan, Justine, Gyorgy, Beata, Cintas, Pascal, Meininger, Vincent, Le Forestier, Nadine, Salachas, François, Couratier, Philippe, Camu, William, Seilhean, Danielle, Millecamps, Stéphanie

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RNF170‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation von Sainte Agathe, Jean‐Madeleine, Mercier, Sandra, Mahé, Jean‐Yves, Péréon, Yann, Buratti, Julien, Tissier, Laurène, Kol, Bophara, Said, Samia Ait, Leguern, Éric, Banneau, Guillaume, Stévanin, Giovanni

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Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy von Ribierre, Théo, Deleuze, Charlotte, Bacq, Alexandre, Baldassari, Sara, Marsan, Elise, Chipaux, Mathilde, Muraca, Giuseppe, Roussel, Delphine, Navarro, Vincent, Leguern, Eric, Miles, Richard, Baulac, Stéphanie

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Mutations of DEPDC5 cause autosomal dominant focal epilepsies von Ishida, Saeko, Picard, Fabienne, Rudolf, Gabrielle, Noé, Eric, Achaz, Guillaume, Thomas, Pierre, Genton, Pierre, Mundwiller, Emeline, Wolff, Markus, Marescaux, Christian, Miles, Richard, Baulac, Michel, Hirsch, Edouard, Leguern, Eric, Baulac, Stéphanie

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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 von Florian, Rahel T., Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp S., Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, LeGuern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie, Gecz, Jozef, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M., Depienne, Christel

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Polygenic risk score to the rescue of monogenic diseases? The case of epilepsy von De Sainte Agathe, Jean-Madeleine, Leguern, Eric

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Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia von Weckhuysen, Sarah, Marsan, Elise, Lambrecq, Virginie, Marchal, Cécile, Morin‐Brureau, Mélanie, An‐Gourfinkel, Isabelle, Baulac, Michel, Fohlen, Martine, Kallay Zetchi, Christine, Seeck, Margitta, Grange, Pierre, Dermaut, Bart, Meurs, Alfred, Thomas, Pierre, Chassoux, Francine, Leguern, Eric, Picard, Fabienne, Baulac, Stéphanie

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Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology von Teyssou, Elisa, Takeda, Takahiro, Lebon, Vincent, Boillée, Séverine, Doukouré, Brahima, Bataillon, Guillaume, Sazdovitch, Véronique, Cazeneuve, Cécile, Meininger, Vincent, LeGuern, Eric, Salachas, François, Seilhean, Danielle, Millecamps, Stéphanie

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Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females von Depienne, Christel, Bouteiller, Delphine, Keren, Boris, Cheuret, Emmanuel, Poirier, Karine, Trouillard, Oriane, Benyahia, Baya, Quelin, Chloé, Carpentier, Wassila, Julia, Sophie, Afenjar, Alexandra, Gautier, Agnès, Rivier, François, Meyer, Sophie, Berquin, Patrick, Hélias, Marie, Py, Isabelle, Rivera, Serge, Bahi-Buisson, Nadia, Gourfinkel-An, Isabelle, Cazeneuve, Cécile, Ruberg, Merle, Brice, Alexis, Nabbout, Rima, Leguern, Eric

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Depdc5 knockout rat: A novel model of mTORopathy von Marsan, Elise, Ishida, Saeko, Schramm, Adrien, Weckhuysen, Sarah, Muraca, Giuseppe, Lecas, Sarah, Liang, Ning, Treins, Caroline, Pende, Mario, Roussel, Delphine, Le Van Quyen, Michel, Mashimo, Tomoji, Kaneko, Takehito, Yamamoto, Takashi, Sakuma, Tetsushi, Mahon, Séverine, Miles, Richard, Leguern, Eric, Charpier, Stéphane, Baulac, Stéphanie

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GM3 synthase deficiency in non-Amish patients von Heide, Solveig, Jacquemont, Marie-Line, Cheillan, David, Renouil, Michel, Tallot, Marilyn, Schwartz, Charles E., Miquel, Juliette, Bintner, Marc, Rodriguez, Diana, Darcel, Françoise, Buratti, Julien, Haye, Damien, Passemard, Sandrine, Gras, Domitille, Perrin, Laurence, Capri, Yline, Gérard, Bénédicte, Piton, Amélie, Keren, Boris, Thauvin-Robinet, Christel, Duffourd, Yannis, Faivre, Laurence, Poe, Charlotte, Pervillé, Anne, Héron, Delphine, Thévenon, Julien, Arnaud, Lionel, LeGuern, Eric, La Selva, Lorita, Vetro, Annalisa, Guerrini, Renzo, Nava, Caroline, Mignot, Cyril

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PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder von Depienne, Christel, LeGuern, Eric

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LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development von Boillot, Morgane, Lee, Chun-Yao, Allene, Camille, Leguern, Eric, Baulac, Stéphanie, Rouach, Nathalie

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Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice von Chabrol, Elodie, Navarro, Vincent, Provenzano, Giovanni, Cohen, Ivan, Dinocourt, Céline, Rivaud-Péchoux, Sophie, Fricker, Desdemona, Baulac, Michel, Miles, Richard, LeGuern, Eric, Baulac, Stéphanie

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STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients von Mignot, Cyril, Moutard, Marie‐Laure, Trouillard, Oriane, Gourfinkel‐An, Isabelle, Jacquette, Aurélia, Arveiler, Benoit, Morice‐Picard, Fanny, Lacombe, Didier, Chiron, Catherine, Ville, Dorothée, Charles, Perrine, LeGuern, Eric, Depienne, Christel, Héron, Delphine

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Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures von BOILLOT, Morgane, HUNEAU, Clément, MARTIN, Benoit, LEGUERN, Eric, ANDERSON, Matthew P, BAULAC, Stéphanie, MARSAN, Elise, LEHONGRE, Katia, NAVARRO, Vincent, ISHIDA, Saeko, DUFRESNOIS, Béatrice, OZKAYNAK, Ekim, GARRIGUE, Jérôme, MILES, Richard

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Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism von Dahawi, Maha, de Sainte Agathe, Jean-Madeleine, Elmagzoub, Mohamed S, Ahmed, Elhami A, Buratti, Julien, Courtin, Thomas, Noé, Eric, Bogoin, Julie, Copin, Bruno, Elmugadam, Fatima A, Abdelgadir, Wasma A, Ahmed, Ahmed K M A, Daldoum, Mohamed A, Altayeb, Rayan Mamoon Ibrahim, Bashir, Mohamed, Khalid, Leena Mohamed, Gamil, Sahar, Baldassari, Sara, Elsayed, Liena, Keren, Boris, Nuel, Gregory, Ahmed, Ammar E, Leguern, Eric

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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly von Hardies, Katia, May, Patrick, Djémié, Tania, Tarta-Arsene, Oana, Deconinck, Tine, Craiu, Dana, Helbig, Ingo, Suls, Arvid, Balling, Rudy, Weckhuysen, Sarah, De Jonghe, Peter, Hirst, Jennifer

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Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders von Depienne, Christel, Moreno-De-Luca, Daniel, Heron, Delphine, Bouteiller, Delphine, Gennetier, Aurélie, Delorme, Richard, Chaste, Pauline, Siffroi, Jean-Pierre, Chantot-Bastaraud, Sandra, Benyahia, Baya, Trouillard, Oriane, Nygren, Gudrun, Kopp, Svenny, Johansson, Maria, Rastam, Maria, Burglen, Lydie, Leguern, Eric, Verloes, Alain, Leboyer, Marion, Brice, Alexis, Gillberg, Christopher, Betancur, Catalina

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First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene von Baulac, Stéphanie, Huberfeld, Gilles, Gourfinkel-An, Isabelle, Mitropoulou, Georgia, Beranger, Alexandre, Prud'homme, Jean-François, Baulac, Michel, Brice, Alexis, Bruzzone, Roberto, LeGuern, Eric

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