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收藏Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism
Dahawi, Maha; Agathe, Jean-Madeleine de Sainte; Elmagzoub, Mohamed S.; Ahmed, Elhami A.; Buratti, Julien; Courtin, Thomas; Noe, 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 分享 收藏 Genetic Insights Into Hypothalamic HamartomaSami, Lina; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Doladilhe, Marion; Bulteau, Christine; Raffo, Emmanuel; Rosenberg, Sarah; Dorfmuller, Georg; Checri, Rayann; Agathe, Jean-Madeleine De Sainte; Leguern, Eric; Adle-Biassette, Homa; Baldassari, Sara; Baulac, Stephanie 分享 收藏 Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's DiseaseCogan, Guillaume; Daida, Kensuke; Billingsley, Kimberley J.; Tesson, Christelle; Forlani, Sylvie; Jornea, Ludmila; Arnaud, Lionel; Tissier, Laurene; LeGuern, Eric; Singleton, Andrew B.; Ferrien, Melanie; Bernard, Helene Gervais; Lesage, Suzanne; Blauwendraat, Cornelis; Brice, Alexis 分享 收藏 Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineageMartins, Sandra; Yahia, Ashraf; Costa, Ines P. D.; Siddig, Hassab E.; Abubaker, Rayan; Koko, Mahmoud; Corral-Juan, Marc; Matilla-Duenas, Antoni; Brice, Alexis; Durr, Alexandra; Leguern, Eric; Ranum, Laura P. W.; Amorim, Antonio; Elsayed, Liena E. O.; Stevanin, Giovanni; Sequeiros, Jorge 分享 收藏 ARF1-related disorder: phenotypic and molecular spectrumARF1-related障碍: 表型和分子谱Agathe, Jean-Madeleine de Sainte; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Celine; Alkuraya, Fowzan S.; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L.; Bryant, Emily M.; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M.; Friedman, Jennifer R.; Iascone, Maria; Cereda, Anna; Miao, Terence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N.; Owens, Joshua W.; Husami, Ammar; Chaudhari, Bimal P.; Stone, Brandon S.; Burns, Katie; Li, Rachel; de Lange, Iris M.; Biehler, Margaux; Ginglinger, Emmanuelle; Gerard, Benedicte; Stottmann, Rolf W.; Trimouille, Aurelien 分享 收藏 GM3 synthase deficiency in non-Amish patientsHeide, Solveig; Jacquemont, Marie-Line; Cheillan, David; Renouil, Michel; Tallot, Marilyn; Schwartz, Charles E.; Miquel, Juliette; Bintner, Marc; Rodriguez, Diana; Darcel, Francoise; Buratti, Julien; Haye, Damien; Passemard, Sandrine; Gras, Domitille; Perrin, Laurence; Capri, Yline; Gerard, Benedicte; Piton, Amelie; Keren, Boris; Thauvin-Robinet, Christel; Duffourd, Yannis; Faivre, Laurence; Poe, Charlotte; Perville, Anne; Heron, Delphine; Thevenon, Julien; Arnaud, Lionel; LeGuern, Eric; La Selva, Lorita; Vetro, Annalisa; Guerrini, Renzo; Nava, Caroline; Mignot, Cyril 分享 收藏 Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndromeAubert Mucca, Marion; Patat, Olivier; Whalen, Sandra; Arnaud, Lionel; Barcia, Giulia; Buratti, Julien; Cogne, Benjamin; Doummar, Diane; Karsenty, Caroline; Kenis, Sandra; Leguern, Eric; Lesca, Gaetan; Nava, Caroline; Nizon, Mathilde; Piton, Amelie; Valence, Stephanie; Villard, Laurent; Weckhuysen, Sarah; Keren, Boris; Mignot, Cyril 分享 收藏 Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosisANXA11的遗传筛选揭示了与肌萎缩性侧索硬化症相关的新突变Teyssou, Elisa; Muratet, Francois; Amador, Maria-Del-Mar; Ferrien, Melanie; Lautrette, Geraldine; Machat, Selma; Boillee, Severine; Larmonier, Thierry; Saker, Safaa; Leguern, Eric; Cazeneuve, Cecile; Marie, Yannick; Guegan, Justine; Gyorgy, Beata; Cintas, Pascal; Meininger, Vincent; Le Forestier, Nadine; Salachas, Francois; Couratier, Philippe; Camu, William; Seilhean, Danielle; Millecamps, Stephanie 分享 收藏 Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare DiseaseBreza, Marianthi; Hirst, Jennifer; Chelban, Viorica; Banneau, Guillaume; Tissier, Laurene; Kol, Bophara; Bourinaris, Thomas; Said, Samia A.; Pereon, Yann; Heinzmann, Anna; Debs, Rabab; Juntas-Morales, Raul; Martinez, Victoria G.; Camdessanche, Jean P.; Scherer-Gagou, Clarisse; Zola, Jean-Medard; Athanasiou-Fragkouli, Alkyoni; Efthymiou, Stephanie; Vavougios, George; Velonakis, Georgios; Stamelou, Maria; Tzartos, John; Potagas, Constantin; Zambelis, Thomas; Mariotti, Caterina; Blackstone, Craig; Vandrovcova, Jana; Mavridis, Theodoros; Kartanou, Chrisoula; Stefanis, Leonidas; Wood, Nicholas; Karadima, Georgia; LeGuern, Eric; Koutsis, Georgios; Houlden, Henry; Stevanin, Giovanni 分享 收藏 RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutationde Sainte Agathe, Jean-Madeleine; Mercier, Sandra; Mahe, Jean-Yves; Pereon, Yann; Buratti, Julien; Tissier, Laurene; Kol, Bophara; Said, Samia Ait; Leguern, Eric; Banneau, Guillaume; Stevanin, Giovanni 分享 收藏 Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience临床实践中用于额颞痴呆的血浆颗粒蛋白前体水平: 法国10年的经验Sellami, Leila; Rucheton, Benoit; Ben Younes, Imen; Camuzat, Agnes; Saracino, Dario; Rinaldi, Daisy; Epelbaum, Stephane; Azuar, Carole; Levy, Richard; Auriacombe, Sophie; Hannequin, Didier; Pariente, Jeremie; Barbier, Mathieu; Boutoleau-Bretonniere, Claire; Couratier, Philippe; Pasquier, Florence; Deramecourt, Vincent; Sauvee, Mathilde; Sarazin, Marie; Lagarde, Julien; Roue-Jagot, Carole; Forlani, Sylvie; Jornea, Ludmila; David, Isabelle; LeGuern, Eric; Dubois, Bruno; Brice, Alexis; Clot, Fabienne; Lamari, Foudil; Le Ber, Isabelle 分享 收藏 The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiencySaracino, Dario; Sellami, Leila; Clot, Fabienne; Camuzat, Agnes; Lamari, Foudil; Rucheton, Benoit; Benyounes, Imen; Roue-Jagot, Carole; Lagarde, Julien; Sarazin, Marie; Jornea, Ludmila; Forlani, Sylvie; LeGuern, Eric; Dubois, Bruno; Brice, Alexis; Le Ber, Isabelle 分享 收藏 Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3Florian, Rahel T.; Kraft, Florian; Leitao, Elsa; Kaya, Sabine; Klebe, Stephan; Magnin, Eloi; van Rootselaar, Anne-Fleur; Buratti, Julien; Kuehnel, Theresa; Schroeder, 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-Francois; 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; Berkovic, Samuel F.; Bisulli, Francesca; Brancati, Francesco; Canafoglia, Laura; Casari, Giorgio; Guerrini, Renzo; Ishiura, Hiroyuki; Licchetta, Laura; Mei, Davide; Pippucci, Tommaso; Sadleir, Lynette; Scheffer, Ingrid E.; Striano, Pasquale; Tinuper, Paolo; Tsuji, Shoji; Zara, Federico; 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 分享 收藏 Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Corbett, Mark A.; Kroes, Thessa; Veneziano, Liana; Bennett, Mark F.; Florian, Rahel; Schneider, Amy L.; Coppola, Antonietta; Licchetta, Laura; Franceschetti, Silvana; Suppa, Antonio; Wenger, Aaron; Mei, Davide; Pendziwiat, Manuela; Kaya, Sabine; Delledonne, Massimo; Straussberg, Rachel; Xumerle, Luciano; Regan, Brigid; Crompton, Douglas; van Rootselaar, Anne-Fleur; Correll, Anthony; Catford, Rachael; Bisulli, Francesca; Chakraborty, Shreyasee; Baldassari, Sara; Tinuper, Paolo; Barton, Kirston; Carswell, Shaun; Smith, Martin; Berardelli, Alfredo; Carroll, Renee; Gardner, Alison; Friend, Kathryn L.; Blatt, Ilan; Iacomino, Michele; Di Bonaventura, Carlo; Striano, Salvatore; Buratti, Julien; Keren, Boris; Nava, Caroline; Forlani, Sylvie; Rudolf, Gabrielle; Hirsch, Edouard; Leguern, Eric; Labauge, Pierre; Balestrini, Simona; Sander, Josemir W.; Afawi, Zaid; Helbig, Ingo; Ishiura, Hiroyuki; Tsuji, Shoji; Sisodiya, Sanjay M.; Casari, Giorgio; Sadleir, Lynette G.; van Coller, Riaan; Tijssen, Marina A. J.; Klein, Karl Martin; van den Maagdenberg, Arn M. J. M.; Zara, Federico; Guerrini, Renzo; Berkovic, Samuel F.; Pippucci, Tommaso; Canafoglia, Laura; Bahlo, Melanie; Striano, Pasquale; Scheffer, Ingrid E.; Brancati, Francesco; Depienne, Christel; Gecz, Jozef 分享 收藏 The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)Baldassari, Sara; Picard, Fabienne; Verbeek, Nienke E.; van Kempen, Marjan; Brilstra, Eva H.; Lesca, Gaetan; Conti, Valerio; Guerrini, Renzo; Bisulli, Francesca; Licchetta, Laura; Pippucci, Tommaso; Tinuper, Paolo; Hirsch, Edouard; de Saint Martin, Anne; Chelly, Jamel; Rudolf, Gabrielle; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Dorfmuller, Georg; Sisodiya, Sanjay; Balestrini, Simona; Schoeler, Natasha; Hernandez-Hernandez, Laura; Krithika, S.; Oegema, Renske; Hagebeuk, Eveline; Gunning, Boudewijn; Deckers, Charles; Berghuis, Bianca; Wegner, Ilse; Niks, Erik H.; Jansen, Floor E.; Braun, Kees; de Jong, Danielle; Rubboli, Guido; Talvik, Inga; Sander, Valentin; Uldall, Peter; Jacquemont, Marie-Line; Nava, Caroline; Leguern, Eric; Julia, Sophie; Gambardella, Antonio; d'Orsi, Giuseppe; Crichiutti, Giovanni; Faivre, Laurence; Darmency, Veronique; Benova, Barbora; Krsek, Pavel; Biraben, Arnaud; Lebre, Anne-Sophie; Jennesson, Melanie; Sattar, Shifteh; Marchal, Cecile; Nordli, Douglas R., Jr.; Lindstrom, Kristin; Striano, Pasquale; Lomax, Lysa Boisse; Kiss, Courtney; Bartolomei, Fabrice; Lepine, Anne Fabienne; Schoonjans, An-Sofie; Stouffs, Katrien; Jansen, Anna; Panagiotakaki, Eleni; Ricard-Mousnier, Brigitte; Thevenon, Julien; de Bellescize, Julitta; Catenoix, Helene; Dorn, Thomas; Zenker, Martin; Muller-Schluter, Karen; Brandt, Christian; Krey, Ilona; Polster, Tilman; Wolff, Markus; Balci, Meral; Rostasy, Kevin; Achaz, Guillaume; Zacher, Pia; Becher, Thomas; Cloppenborg, Thomas; Yuskaitis, Christopher J.; Weckhuysen, Sarah; Poduri, Annapurna; Lemke, Johannes R.; Moller, Rikke S.; Baulac, Stephanie 分享 收藏 The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2018)Baldassari, Sara; Picard, Fabienne; Verbeek, Nienke E.; van Kempen, Marjan; Brilstra, Eva H.; Lesca, Gaetan; Conti, Valerio; Guerrini, Renzo; Bisulli, Francesca; Licchetta, Laura; Pippucci, Tommaso; Tinuper, Paolo; Hirsch, Edouard; de Saint Martin, Anne; Chelly, Jamel; Rudolf, Gabrielle; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Dorfmueller, Georg; Sisodiya, Sanjay; Balestrini, Simona; Schoeler, Natasha; Hernandez-Hernandez, Laura; Krithika, S.; Oegema, Renske; Hagebeuk, Eveline; Gunning, Boudewijn; Deckers, Charles; Berghuis, Bianca; Wegner, Ilse; Niks, Erik; Jansen, Floor; Braun, Kees; de Jong, Danielle; Rubboli, Guido; Talvik, Inga; Sander, Valentin; Uldall, Peter; Jacquemont, Marie-Line; Nava, Caroline; Leguern, Eric; Julia, Sophie; Gambardella, Antonio; d'Orsi, Giuseppe; Crichiutti, Giovanni; Faivre, Laurence; Darmency, Veronique; Benova, Barbora; Krsek, Pavel; Biraben, Arnaud; Lebre, Anne-Sophie; Jennesson, Melanie; Sattar, Shifteh; Marchal, Cecile; Nordli, Douglas R., Jr.; Lindstrom, Kristin; Striano, Pasquale; Lomax, Lysa Boisse; Kiss, Courtney; Bartolomei, Fabrice; Lepine, Anne Fabienne; Schoonjans, An-Sofie; Stouffs, Katrien; Jansen, Anna; Panagiotakaki, Eleni; Ricard-Mousnier, Brigitte; Thevenon, Julien; de Bellescize, Julitta; Catenoix, Helene; Dorn, Thomas; Zenker, Martin; Mueller-Schlueter, Karen; Brandt, Christian; Krey, Ilona; Polster, Tilman; Wolff, Markus; Balci, Meral; Rostasy, Kevin; Achaz, Guillaume; Zacher, Pia; Becher, Thomas; Cloppenborg, Thomas; Yuskaitis, Christopher J.; Weckhuysen, Sarah; Poduri, Annapurna; Lemke, Johannes R.; Moller, Rikke S.; Baulac, Stephanie 分享 收藏 A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic EncephalopathyAP2M1中的复发性错义变体会损害网格蛋白介导的内吞作用，并导致发育性和癫痫性脑病Helbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin A.; Huempfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Sterbova, Katalin; Hammer, Trine Bjorg; Moller, Rikke S.; Shinde, Deepali N.; Tang, Sha; Smith, Lacey; Poduri, Annapurna; Krause, Roland; Benninger, Felix; Helbig, Katherine L.; Haucke, Volker; Weber, Yvonne G.; Balling, Rudi; Barisic, Nina; Baulac, Stephanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; Klein, Karl Martin; Koeleman, Bobby P. C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnan-Kivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb K.; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, SekWon; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth D.; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter 分享 收藏 Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizuresMaljevic, Snezana; Keren, Boris; Aung, Ye Htet; Forster, Ian C.; Mignot, Cyril; Buratti, Julien; Lafitte, Aurelie; Freihuber, Cecile; Rodan, Lance H.; Bergin, Ann; Hubert, Laurence; Poirier, Karine; Munnich, Arnold; Besmond, Claude; Hauser, Natalie; Miller, Rebecca; McWalter, Kirsty; Nabbout, Rima; Heron, Delphine; Leguern, Eric; Depienne, Christel; Petrou, Steven; Nava, Caroline 分享 收藏 
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