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

Trends in paediatric antiseizure-medication use and costs in France, 2014-2023: a nationwide population-based analysis

2014-2023年法国儿童抗癫痫药物使用及费用趋势:一项基于全国人口的分析

Nabbout, Rima; Santilli, Annaëlle; Tyvaert, Louise; Schweitzer, Cyril; Maillard, Louis; Kuchenbuch, Mathieu

A global perspective on transitioning from pediatric to adult care in epilepsy

从全球视角看癫痫治疗从儿科到成人的过渡

Andrade, Danielle M; Jetté, Nathalie; Chandran, Ilakkiah; Patel, Puja; Rubboli, Guido; Cross, J Helen; Craiu, Dana; Tan, Chong Tin; Kija, Edward; Fung, Eva; Granata, Tiziana; Hosny, Hassan; Mula, Marco; Riney, Kate; Shellhaas, Renée A; Siddiqui, Maria; Zulfiqar Ali, Quratulain; Hébert, Julien; Marques, Paula; Kerrigan, Bronte; Ji, Caihong; Valente, Kette; Carrizosa, Jaime; Nabbout, Rima

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

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

Vigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex

维加巴特林相关脑磁共振成像异常及结节性硬化症患儿的临床症状

Stevering, Carmen; Lequin, Maarten; Szczepaniak, Kinga; Sadowski, Krzysztof; Ishrat, Saba; De Luca, Alberto; Leemans, Alexander; Otte, Willem; Kwiatkowski, David J; Curatolo, Paolo; Weschke, Bernhard; Riney, Kate; Feucht, Martha; Krsek, Pavel; Nabbout, Rima; Jansen, Anna; Wojdan, Konrad; Sijko, Kamil; Glowacka-Walas, Jagoda; Borkowska, Julita; Domanska-Pakiela, Dorota; Moavero, Romina; Hertzberg, Christoph; Hulshof, Hanna; Scholl, Theresa; Petrák, Bořivoj; Maminak, Miroslav; Aronica, Eleonora; De Ridder, Jessie; Lagae, Lieven; Jozwiak, Sergiusz; Kotulska, Katarzyna; Braun, Kees; Jansen, Floor

Embracing the future: Neonatal screening for epileptic syndromes

拥抱未来:新生儿癫痫综合征筛查

Nabbout, Rima; Kuchenbuch, Mathieu

Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy

ATP6V0C基因变异与Dravet样发育性癫痫性脑病相关。

Rong, Marlene; Marques, Paula T; Ali, Quratulain Zulfiqar; Morcos, Ricardo; Chandran, Ilakkiah; Qaiser, Farah; Møller, Rikke S; Bayat, Allan; Rubboli, Guido; Gardella, Elena; Reuter, Miriam S; Sands, Tristan T; Scheffer, Ingrid E; Schneider, Amy; Poduri, Annapurna; Wirrell, Elaine; Nabbout, Rima; Sullivan, Joseph; Valente, Kette; Auvin, Stéphane; Knupp, Kelly G; Brunklaus, Andreas; Aledo-Serrano, Ángel; Andrade, Danielle M

Transition from pediatric to adult care system in patients with complex epilepsies: Necker model for transition evaluated on 70 consecutive patients

复杂性癫痫患者从儿科护理系统过渡到成人护理系统:Necker过渡模型在70例连续患者中的评估

Nabbout, Rima; Molimard, Agathe; Scorrano, Giovanna; Aubart, Melodie; Breuillard, Delphine; Delaune, Morgane; Barcia, Giulia; Chemaly, Nicole; Barthez, Marie-Anne; Desguerre, Isabelle

Long-term safety and effectiveness of fenfluramine in children and adults with Dravet syndrome

芬氟拉明治疗Dravet综合征儿童和成人的长期安全性和有效性

Scheffer, Ingrid E; Nabbout, Rima; Lagae, Lieven; Devinsky, Orrin; Auvin, Stéphane; Thiele, Elizabeth A; Wirrell, Elaine C; Polster, Tilman; Specchio, Nicola; Pringsheim, Milka; Imai, Katsumi; Lock, Michael D; Langlois, Mélanie; Roper, Rebecca Zhang; Lothe, Amélie; Sullivan, Joseph