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

Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy

反义寡核苷酸介导的基因敲低疗法治疗两名患有严重KCNT1癫痫性脑病的婴儿

Nakayama, Tojo; El Achkar, Christelle M; Burbano, Lisseth E; Quraishi, Imran H; Wu, Jing; Li, Melody; Asami, Yutaro; Golinski, Sean R; Sherrill, Emma; Goodlett, Benjamin D; de Gusmao, Claudio M; Friedman, Danielle A; Lentucci, Claudia; Suslovitch, Victoria; Riccardi, Olivia; Faour, Kamli N W; Kuniholm, Ashley; Soucy Verran, Aubrie; Coffman, Siobhan; Ahtam, Banu; Zhao, Boxun; Chin, Diana H; DiDonato, Renata L; Hu, Chunguang A; Lopez, Edith; Hills, Sonia; Maljevic, Snezana; Tran, Helene; Bush, Lynn W; Grant, Patricia Ellen; Madsen, Joseph R; Smith, Richard S; Kaczmarek, Leonard K; Berde, Charles B; Yu, Timothy W

Prenatal antiseizure drug exposure and risk of neurodevelopmental disorders in children: population based cohort study

产前抗癫痫药物暴露与儿童神经发育障碍风险:基于人群的队列研究

Straub, Loreen; Hernandez-Diaz, Sonia; Bateman, Brian T; Zhu, Yanmin; Mogun, Helen; Wisner, Katherine L; Gray, Kathryn J; Lester, Barry; McDougle, Christopher J; Pennell, Page B; Huybrechts, Krista F

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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

Risk of Cancer in Patients With First-Time Seizure

首次癫痫发作患者的癌症风险

Pedersen, Andreas Lund; Farkas, Dóra Körmendiné; Fuglsang, Cecilia Hvitfeldt; Henderson, Victor W; Al-Mashhadi, Sofie Kejlberg; Elser, Holly; Sørensen, Henrik Toft

Acute Brain Injury in New-Onset Refractory Status Epilepticus and Etiology-Defined Status Epilepticus

新发难治性癫痫持续状态和病因明确的癫痫持续状态中的急性脑损伤

Meletti, Stefano; Hanin, Aurelie; Giovannini, Giada; Bedin, Roberta; Burani, Margherita; Taruffi, Lisa; Orlandi, Niccolò; Urbano, Teresa; D'Achille, Fabio; Malerba, Mara; Basha, Maysaa M; Eschbach, Krista; Foreman, Brandon; Farias-Moeller, Raquel; Gaspard, Nicolas; Gerard, Elisabeth E; Gofton, Teneille; Gopaul, Margaret T; Haider, Hiba A; Hantus, Stephen T; Herman, Susan; Kang, Peter; Day, Gregory S; Kandula, Padmaja; Steriade, Claude; Struck, Aaron F; Taraschenko, Olga; Wainwright, Mark; Yoo, Ji Yeoun; Zhou, Daniel J; Lattanzi, Simona; Navarro, Vincent; Hirsch, Lawrence J

Incidence and Risk Factors of Epilepsy Among Older Adults in the US Medicare Population

美国医疗保险人群中老年人癫痫的发病率和危险因素

Dong, Weichuan; Cabulong, Alex; Vu, Long; Al-Kindi, Sadeer G; Warner, David F; Schiltz, Nicholas K; Fein, Hannah L; Ghearing, Gena R; Sajatovic, Martha; Koroukian, Siran M

Comparative Effectiveness of Brivaracetam, Cenobamate, Lacosamide, and Perampanel in Focal Epilepsy

Brivaracetam、Cenobamate、Lacosamide 和 Perampanel 治疗局灶性癫痫的疗效比较

Cerulli Irelli, Emanuele; Roberti, Roberta; Borioni, Maria Sole; Anzellotti, Francesca; Belcastro, Vincenzo; Beretta, Simone; Boero, Giovanni; Bonanni, Paolo; Chiesa, Valentina; D'Aniello, Alfredo; Dainese, Filippo; Deleo, Francesco; De Maria, Giovanni; Di Gennaro, Giancarlo; Di Gennaro, Gianfranco; Didato, Giuseppe; Dono, Fedele; Falcicchio, Giovanni; Ferlazzo, Edoardo; Fortunato, Francesco; La Neve, Angela; Mecarelli, Oriano; Montalenti, Elisa; Morano, Alessandra; Nilo, Annacarmen; Operto, Francesca Felicia; Paladin, Francesco; Pascarella, Angelo; Pauletto, Giada; Pietrafusa, Nicola; Pignatta, Pietro; Pulitano, Patrizia; Renna, Rosaria; Rosati, Eleonora; Sammarra, Ilaria; Di Bonaventura, Carlo; Russo, Emilio; Lattanzi, Simona

Suicidality at Epilepsy Diagnosis and Future Treatment Resistance in Adults With Focal Epilepsy

局灶性癫痫成人患者在确诊癫痫时的自杀倾向与未来治疗抵抗的关系

Barnard, Sarah N; French, Jacqueline A; Chen, Zhibin; Holmes, Manisha; Hegde, Manu; Altalib, Hamada Hamid; Winawer, Melodie; Sperling, Michael; Jette, Nathalie; Hope, Omotola; Nadkarni, Siddhartha; O'Brien, Terence J; Kuzniecky, Ruben; Lowenstein, Daniel; Kanner, Andres M

Prenatal Exposure to Zika Virus and Risk of Epilepsy-Related Hospitalization During Early Childhood

产前接触寨卡病毒与幼儿期癫痫相关住院风险

Tedde, João Guilherme G; Cerqueira-Silva, Thiago; Carroll, Orlagh; Rodrigues, Laura C; Teixeira, Maria Gloria; Clemente, Nuria Sanchez; Barreto, Mauricio L; Paixão, Enny S