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

American Epilepsy Society Clinical Practice Guideline: Infantile Epilepsy

美国癫痫学会临床实践指南:婴儿癫痫

Freedman, Daniel; Babatunde, Ifeoluwa; Morgan, Rebecca L; Abu-Sawwa, Renad; Albert, Dara; Behbahani, Mandana; Chapman, Kevin; Fecske, Erin; Gaillard, William Davis; Jones, Monika; Meskis, Mary Anne; Myers, Leah Schust; Nye, Kim; Oluigbo, Chima; Pfeifer, Heidi H; Shellhaas, Reneé A; Thompson, Lindsey; Weiner, Howard L; Wusthoff, Courtney J; Yozawitz, Elissa

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Dravet syndrome: From neurodevelopmental to neurodegenerative disease?

Dravet综合征:从神经发育性疾病到神经退行性疾病?

Selvarajah, Arunan; Sabo, Andrea; Gorodetsky, Carolina; Marques, Paula T; Chandran, Ilakkiah; Thompson, Miles; Zulfiqar Ali, Quratulain; McAndrews, Mary Pat; Tartaglia, Maria Carmela; Lira, Victor S T; Huh, Linda; Connolly, Mary; Rezazadeh, Arezoo; Qaiser, Farah; Fantaneanu, Tadeu A; Duong, Monica; Barboza, Karen; Lomax, Lysa Boissé; Inuzuka Nakaharada, Luciana; Valente, Kette; Arbinuch, Jack; Espindola, Mariana; Garzon, Eliana; Sorrento, Gianluca; Meskis, Mary Anne; Villas, Nicole; Hood, Veronica; Gonzalez, Marta; Cardenal-Muñoz, Elena; Aiba, Jose Angel; McKenna, Lauraine; Linehan, Christine; Hohn, Sophine; Auvin, Stéphane; Devinsky, Orrin; Yuen, Ryan; Berg, Anne T; Taati, Babak; Fasano, Alfonso; Andrade, Danielle M

Evidence demands action: An invitation to share the burden of proof

证据要求采取行动:邀请各方共同承担举证责任。

Andrade, Danielle M; Berg, Anne T; Selvarajah, Arunan; Sabo, Andrea; Gorodetsky, Carolina; Marques, Paula; Chandran, Ilakkiah; Thompson, Miles; Ali, Quratulain Zulfiqar; McAndrews, Mary Pat; Tartaglia, Maria Carmela; Lira, Victor S T; Huh, Linda; Connolly, Mary; Rezazadeh, Arezoo; Qaiser, Farah; Fantaneanu, Tadeu A; Duong, Monica; Barboza, Karen; Lomax, Lysa Boissé; Nakaharada, Luciana Inuzuka; Arbinuch, Jack; Espindola, Mariana; Garzon, Eliana; Sorrento, Gianluca; Meskis, Mary Anne; Villas, Nicole; Hood, Veronica; Gonzalez, Marta; Cardenal-Muñoz, Elena; Aibar, Jose Angel; McKenna, Lauraine; Linehan, Christine; Yuen, Ryan; Taati, Babak; Fasano, Alfonso; Devinsky, Orrin; Valente, Kette

Ontology accelerates few-shot learning capability of large language model: A study in extraction of drug efficacy in a rare pediatric epilepsy

本体论加速大型语言模型的小样本学习能力:一项关于罕见儿童癫痫药物疗效提取的研究

Golnari, Pedram; Prantzalos, Katrina; Hood, Veronica; Meskis, Mary Anne; Isom, Lori L; Wilcox, Karen; Parent, Jack M; Lal, Dennis; Lhatoo, Samden D; Goodkin, Howard P; Wirrell, Elaine C; Knupp, Kelly G; Patel, Manisha; Loeb, Jeffrey A; Sullivan, Joseph E; Harte-Hargrove, Lauren; Fureman, Brandy E; Buchhalter, Jeffrey; Sahoo, Satya S

International consensus on diagnosis and management of Dravet syndrome

关于Dravet综合征的诊断和治疗的国际共识

Wirrell, Elaine C; Hood, Veronica; Knupp, Kelly G; Meskis, Mary Anne; Nabbout, Rima; Scheffer, Ingrid E; Wilmshurst, Jo; Sullivan, Joseph

COVID-19 vaccine in patients with Dravet syndrome: Observations and real-world experiences

Dravet综合征患者接种COVID-19疫苗:观察和真实世界经验

Hood, Veronica; Berg, Anne T; Knupp, Kelly G; Koh, Sookyong; Laux, Linda; Meskis, Mary Anne; Zulfiqar-Ali, Quratulain; Perry, M Scott; Scheffer, Ingrid E; Sullivan, Joseph; Wirrell, Elaine; Andrade, Danielle M

Impact of intellectual and developmental disability on quality-of-life priorities in adults with epilepsy

智力及发育障碍对癫痫成人患者生活质量优先事项的影响

Chiang, Sharon; Moss, Robert; Meskis, Mary Anne; Vogel-Farley, Vanessa; Sullivan, Joseph E; Patel, Anup D; Rao, Vikram R

Epilepsy Community at an Inflection Point: Translating Research Toward Curing the Epilepsies and Improving Patient Outcomes

癫痫病领域正处于转折点:将研究成果转化为治愈癫痫和改善患者预后的方法

Penn Miller, Ilene; Hecker, JayEtta; Fureman, Brandy; Meskis, Mary Anne; Roberds, Steve; Jones, Monika; Grabenstatter, Heidi; Vogel-Farley, Vanessa; Lubbers, Laura

Seizure burden in severe early-life epilepsy: Perspectives from parents

严重早期癫痫的发作负担:来自父母的视角

Berg, Anne T; Kaiser, Karen; Dixon-Salazar, Tracy; Elliot, Andi; McNamara, Nancy; Meskis, Mary Anne; Golbeck, Emily; Tatachar, Priya; Laux, Linda; Raia, Carrie; Stanley, Janice; Luna, April; Rozek, Christian