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

Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study

阿米替林在携带KCNQ2/3功能获得性变异个体中的应用:一项回顾性队列研究

De Wachter, Matthias; Millevert, Charissa; Nicolai, Joost; Cats, Elisabeth; Kluger, Gerhard; Milh, Mathieu; Cloarec, Robin; Syrbe, Steffen; Arts, Katrijn; Jansen, Katrien; Krygier, Magdalena; Smigiel, Robert; Auvin, Stephane; Olofson, Kern; Gjerulfsen, Cathrine Elisabeth; Ceulemans, Berten; Møller, Rikke S; Bayat, Allan; Weckhuysen, Sarah

Cenobamate as add-on treatment in ultra-refractory focal epilepsy: Real-world results from The Danish Epilepsy Centre, Dianalund, Denmark

塞诺巴酯作为辅助治疗药物用于治疗超难治性局灶性癫痫:来自丹麦迪亚纳隆德丹麦癫痫中心的真实世界研究结果

Gjerulfsen, Cathrine E; Juhl, Stefan; Mieszczanek, Katarzyna M; Spanilá, Lucie; Thygesen, Kristin S; Pavbro, Agnieszka; Møller, Rikke S; Rubboli, Guido

Fenfluramine treatment in pediatric patients with Dravet syndrome reduces seizure burden and overall healthcare costs: A retrospective and observational real-world study

芬氟拉明治疗可减轻Dravet综合征患儿的癫痫发作负担并降低总体医疗保健成本:一项回顾性观察性真实世界研究

Gjerulfsen, Cathrine E; Nikanorova, Marina; Olofsson, Kern; Johannessen Landmark, Cecilie; Rubboli, Guido; Møller, Rikke S

Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant

长春西汀改善了携带 GABRA1 功能缺失变异体的患者的神经精神症状和癫痫症状。

Gjerulfsen, Cathrine E; Mieszczanek, Tomasz S; Johannesen, Katrine M; Liao, Vivian W Y; Chebib, Mary; Nørby, Helene A J; Gardella, Elena; Rubboli, Guido; Ahring, Philip; Møller, Rikke S

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

SCN8A相关疾病的基因型-表型相关性揭示了其预后和治疗意义。

Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

PURA相关发育和癫痫性脑病:表型和基因型谱

Johannesen, Katrine M; Gardella, Elena; Gjerulfsen, Cathrine E; Bayat, Allan; Rouhl, Rob P W; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Them, Frédéric; Denommé-Pichon, Anne-Sophie; Coubes, Christine; Larson, Austin; Esser, Michael J; Appendino, Juan Pablo; Al-Hertani, Walla; Gamboni, Beatriz; Mampel, Alejandra; Mayorga, Lía; Orsini, Alessandro; Bonuccelli, Alice; Suppiej, Agnese; Van-Gils, Julien; Vogt, Julie; Damioli, Simona; Giordano, Lucio; Moortgat, Stephanie; Wirrell, Elaine; Hicks, Sarah; Kini, Usha; Noble, Nathan; Stewart, Helen; Asakar, Shailesh; Cohen, Julie S; Naidu, SakkuBai R; Collier, Ashley; Brilstra, Eva H; Li, Mindy H; Brew, Casey; Bigoni, Stefania; Ognibene, Davide; Ballardini, Elisa; Ruivenkamp, Claudia; Faggioli, Raffaella; Afenjar, Alexandra; Rodriguez, Diana; Bick, David; Segal, Devorah; Coman, David; Gunning, Boudewijn; Devinsky, Orrin; Demmer, Laurie A; Grebe, Theresa; Pruna, Dario; Cursio, Ida; Greenhalgh, Lynn; Graziano, Claudio; Singh, Rahul Raman; Cantalupo, Gaetano; Willems, Marjolaine; Yoganathan, Sangeetha; Góes, Fernanda; Leventer, Richard J; Colavito, Davide; Olivotto, Sara; Scelsa, Barbara; Andrade, Andrea V; Ratke, Kelly; Tokarz, Farha; Khan, Atiya S; Ormieres, Clothilde; Benko, William; Keough, Karen; Keros, Sotirios; Hussain, Shanawaz; Franques, Ashlea; Varsalone, Felicia; Grønborg, Sabine; Mignot, Cyril; Heron, Delphine; Nava, Caroline; Isapof, Arnaud; Borlot, Felippe; Whitney, Robyn; Ronan, Anne; Foulds, Nicola; Somorai, Marta; Brandsema, John; Helbig, Katherine L; Helbig, Ingo; Ortiz-González, Xilma R; Dubbs, Holly; Vitobello, Antonio; Anderson, Mel; Spadafore, Dominic; Hunt, David; Møller, Rikke S; Rubboli, Guido