日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

Lennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop

Lennox-Gastaut综合征揭开面纱:推进诊断、治疗和宣传——来自热那亚国际研讨会的见解

Riva, Antonella; D'Onofrio, Gianluca; Amadori, Elisabetta; Arzimanoglou, Alexis; Auvin, Stéphane; Bagnasco, Irene; Barabino, Paola; Biagioli, Valentina; Brambilla, Isabella; Cangemi, Giuliana; Coppola, Antonietta; De Lillo, Antonella; Di Bonaventura, Carlo; Di Gennaro, Giancarlo; Ferlazzo, Edoardo; Gil-Nagel, Antonio; Gobbi, Giuseppe; Lattanzi, Simona; Kluger, Gerhard; Krämer, Günter; Mancardi, Maria Margherita; Minetti, Carlo; Nobili, Lino; Paravati, Elisa; Pringsheim, Milka; Rebessi, Erika; Romeo, Antonino; Russo, Angelo; Russo, Emilio; Santoro, Katia; Schubert-Bast, Susanne; Siri, Laura; Sourbron, Jo; Vari, Maria Stella; Verrotti, Alberto; Villani, Flavio; Viri, Maurizio; von Stülpnagel, Celina; Zamponi, Nelia; Zara, Federico; Striano, Pasquale

Pediatric Investigation Plans for seizure and epilepsy treatments: An analysis since the implementation of the European Pediatric Regulation in 2006

儿科癫痫发作和癫痫治疗调查计划:自2006年欧洲儿科法规实施以来的分析

Agostini, Valeria; Auvin, Stéphane

Weaning from ketogenic diet therapy in children with epilepsy: Insights from a retrospective study

儿童癫痫患者逐步停止生酮饮食疗法:一项回顾性研究的启示

Donnard, Noémie; Dozières-Puyravel, Blandine; Geraldes, Katia; Perrot, Céline; Quéméner, Virginie; Goujon, Estelle; Truchy, Pierre; Nasser, Hala; Mauvais, François-Xavier; Danse, Marion; Auvin, Stéphane

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

癫痫发作对携带致病性GABRB2和GABRB3变异的个体粗大运动功能障碍的预测价值

Ortiz, Sebastian; Affronte, Leonardo; Bagliani, Chiara; El-Kamand, Serene; Kan, Anthony Sze Hon; Kristoffersen, Isabel T; Dahl, Rebekka S; Højte, Anne F; Auvin, Stéphane; Bouman, Arjan; Zeidler, Shimriet; Kluger, Gerhard; Lesca, Gaetan; Chatron, Nicolas; Goke-Samar, Zeynep; Papadopoulou, Maria T; Terzi, Matthildi Athina Papathanasiou; Schaefer, Elise; de Saint Martin, Anne; Baer, Sarah; Al Owain, Mohammed; Takroni, Saud; Al-Dhalaan, Hesham; Bonanni, Paolo; Rossi, Alessandra; Zanotta, Nicoletta; Trivisano, Marina; Specchio, Nicola; de Dominicis, Angela; Striano, Pasquale; Orsini, Alessandro; Mancardi, Maria Margherita; Neuens, Sebastian; Jennesson-Lyver, Melanie; Benkel-Herrenbrueck, Ira; Genevieve, David; Sidlow, Richard; Tezcan, Kamer; Krey, Ilona; Lemke, Johannes R; Platzer, Konrad; Lederer, Damien; Talvik, Inga; Vaher, Ulvi; Braun, Kees P J; Guerrot, Anne-Marie; More, Rebecca; De Wachter, Matthias; Weckhuysen, Sarah; Carapancea, Evelina; Cilio, Maria Roberta; Jacobs, Julia; Sterbova, Katalin; Balestrini, Simona; Guerrini, Renzo; Peroni, Giulio; Mero, Inger-Lise; ElNaggar, Walaa; Elkhateeb, Nour; Schmetz, Ariane; Chan, Denise L; Mirzaa, Ghayda M; Chaumette, Boris; Legrand, Adrien; McTague, Amy; Stödberg, Tommy; Harris, Rebekah V; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Ahring, Philip K; Absalom, Nathan L; Møller, Rikke S

Spatiotemporal transcriptomic mapping reveals region-specific glial activation and astrocyte shifts in epileptogenesis beyond the hippocampus

时空转录组图谱揭示了海马体以外癫痫发生过程中区域特异性的胶质细胞激活和星形胶质细胞转移

Dufour, Adrien; Le Priol, Christophe; Porte, Baptiste; Jouanard, Ronan; Maurizio, Julien; Receveur, Anne-Elodie; Auvin, Stéphane; Van Steenwinckel, Juliette; Gressens, Pierre; Delahaye-Duriez, Andrée

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

癫痫研究优先领域:欧洲罕见和复杂癫痫参考网络 EpiCARE 的立场文件

Tchaicha, Sébile; Auvin, Stéphane; Beniczky, Sándor; Brunklaus, Andreas; Lagae, Lieven; Perucca, Emilio; Surges, Rainer; Adler, Sophie; Helmstaedter, Christoph; Jansen, Floor; Rubboli, Guido; Ryvlin, Philippe; Specchio, Nicola; Trinka, Eugen; Blümcke, Ingmar; de Giorgis, Valentina; Kotulska, Katarzyna; Lesca, Gaetan; Malenica, Masa; McTague, Amy; Nabbout, Rima; Møller, Rikke Steensbjerre; Arrieta, Sandra Silva; Brambilla, Isabella; Kosla, Małgorzata; Braun, Kees; Cross, J Helen; Arzimanoglou, Alexis

Recommendations for the community-based management of prolonged convulsive seizures in children in Europe

欧洲儿童持续性惊厥发作的社区管理建议

Vigevano, Federico; Arzimanoglou, Alexis; Auvin, Stéphane; Kaindl, Angela M; Lynch, Bryan; Mazurkiewicz-Bełdzińska, Maria; Pujar, Suresh; Smeyers, Patricia; Cross, J Helen

Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.

皮质发育中与 MTOR 相关的畸形中的氯离子失调和 GABA 去极化

Bakouh Naziha, Castaño-Martín Reyes, Metais Alice, Dan Emanuela Loredana, Balducci Estelle, Chhuon Cerina, Lepicka Joanna, Barcia Giulia, Losito Emma, Lourdel Stéphane, Planelles Gabrielle, Muresan Raul C, Moca Vasile Vlad, Kaminska Anna, Bourgeois Marie, Chemaly Nicole, Rguez Yasmine, Auvin Stéphane, Huberfeld Gilles, Varlet Pascale, Asnafi Vahid, Guerrera Ida Chiara, Kabashi Edor, Nabbout Rima, Ciura Sorana, Blauwblomme Thomas

Clinically Meaningful Reduction in Drop Seizures in Patients with Lennox-Gastaut Syndrome Treated with Cannabidiol: Post Hoc Analysis of Phase 3 Clinical Trials

大麻二酚治疗Lennox-Gastaut综合征患者可显著减少跌倒性癫痫发作:3期临床试验的事后分析

Specchio, Nicola; Auvin, Stéphane; Greco, Teresa; Lagae, Lieven; Nortvedt, Charlotte; Zuberi, Sameer M