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

Identification of an episignature for the MEF2C-associated syndrome

鉴定MEF2C相关综合征的表观遗传特征

Silva, Ananília; Haghshenas, Sadegheh; van der Laan, Liselot; Levy, Michael A; Relator, Raissa; McConkey, Haley; Kerkhof, Jennifer; Skinner, Steve A; Faivre, Laurence; Lespinasse, James; Vitobello, Antonio; Valenzuela, Irene; Scheffer, Ingrid E; Russ-Hall, Sophie J; Myers, Kenneth A; Tedder, Matthew L; Sadikovic, Bekim; Cooley Coleman, Jessica A

Eating habits and behaviors in children with Dravet syndrome: A case-control study

Dravet综合征患儿的饮食习惯和行为:一项病例对照研究

Laliberté, Alexandra; Siafa, Lyna; Soufi, Arij; Dassi, Christelle; Russ-Hall, Sophie J; Scheffer, Ingrid E; Myers, Kenneth A

SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature

SCN1A致病变异体不具有独特的血液来源DNA甲基化特征。

LaFlamme, Christy W; Karimi, Karim; Rastin, Cassandra; Almanza Fuerte, Edith P; Allan, Talia; Russ-Hall, Sophie J; Schneider, Amy L; Stobo, Daniel; Lesca, Gaetan; Symonds, Joseph D; Brunklaus, Andreas; Sadleir, Lynette G; Scheffer, Ingrid E; Sadikovic, Bekim; Mefford, Heather C

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

DNA甲基化分析在遗传未明的儿童癫痫诊断中的应用及CHD2表观遗传特征的完善

LaFlamme, Christy W; Rastin, Cassandra; Sengupta, Soham; Pennington, Helen E; Russ-Hall, Sophie J; Schneider, Amy L; Bonkowski, Emily S; Almanza Fuerte, Edith P; Allan, Talia J; Zalusky, Miranda Perez-Galey; Goffena, Joy; Gibson, Sophia B; Nyaga, Denis M; Lieffering, Nico; Hebbar, Malavika; Walker, Emily V; Darnell, Daniel; Olsen, Scott R; Kolekar, Pandurang; Djekidel, Mohamed Nadhir; Rosikiewicz, Wojciech; McConkey, Haley; Kerkhof, Jennifer; Levy, Michael A; Relator, Raissa; Lev, Dorit; Lerman-Sagie, Tally; Park, Kristen L; Alders, Marielle; Cappuccio, Gerarda; Chatron, Nicolas; Demain, Leigh; Genevieve, David; Lesca, Gaetan; Roscioli, Tony; Sanlaville, Damien; Tedder, Matthew L; Gupta, Sachin; Jones, Elizabeth A; Weisz-Hubshman, Monika; Ketkar, Shamika; Dai, Hongzheng; Worley, Kim C; Rosenfeld, Jill A; Chao, Hsiao-Tuan; Neale, Geoffrey; Carvill, Gemma L; Wang, Zhaoming; Berkovic, Samuel F; Sadleir, Lynette G; Miller, Danny E; Scheffer, Ingrid E; Sadikovic, Bekim; Mefford, Heather C

Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies

遗传性发育性癫痫性脑病和癫痫性脑病患者的癫痫持续状态和猝死发生率

Donnan, Alice M; Schneider, Amy L; Russ-Hall, Sophie; Churilov, Leonid; Scheffer, Ingrid E

Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy

阳离子泄漏:一种常见的导致HCN1发育性和癫痫性脑病的致病功能缺陷

McKenzie, Chaseley E; Forster, Ian C; Soh, Ming S; Phillips, A Marie; Bleakley, Lauren E; Russ-Hall, Sophie J; Myers, Kenneth A; Scheffer, Ingrid E; Reid, Christopher A

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

PPFIA3基因的罕见变异会导致发育迟缓、智力障碍、自闭症和癫痫。

Paul, Maimuna S; Michener, Sydney L; Pan, Hongling; Pfliger, Jessica M; Rosenfeld, Jill A; Lerma, Vanesa C; Tran, Alyssa; Longley, Megan A; Lewis, Richard A; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L; Guillen Sacoto, Maria J; Person, Richard; McDonnell, Pamela P; Cohen, Stacey R; Lusk, Laina; Cohen, Ana S A; Pichon, Jean-Baptiste Le; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Pichon, Anne-Sophie Denommé-; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E; Carvill, Gemma L; Mefford, Heather; Network, Undiagnosed Diseases; Bacino, Carlos A; Lee, Brendan H; Chao, Hsiao-Tuan

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

SCN1A功能获得性疾病谱:新型癫痫表型及其治疗意义

Brunklaus, Andreas; Brünger, Tobias; Feng, Tony; Fons, Carmen; Lehikoinen, Anni; Panagiotakaki, Eleni; Vintan, Mihaela-Adela; Symonds, Joseph; Andrew, James; Arzimanoglou, Alexis; Delima, Sarah; Gallois, Julie; Hanrahan, Donncha; Lesca, Gaetan; MacLeod, Stewart; Marjanovic, Dragan; McTague, Amy; Nuñez-Enamorado, Noemi; Perez-Palma, Eduardo; Scott Perry, M; Pysden, Karen; Russ-Hall, Sophie J; Scheffer, Ingrid E; Sully, Krystal; Syrbe, Steffen; Vaher, Ulvi; Velayutham, Murugan; Vogt, Julie; Weiss, Shelly; Wirrell, Elaine; Zuberi, Sameer M; Lal, Dennis; Møller, Rikke S; Mantegazza, Massimo; Cestèle, Sandrine

Does long-term phenytoin have a place in Dravet syndrome?

长期服用苯妥英钠对治疗德拉韦综合征有效吗?

Zographos, George A; Russ-Hall, Sophie J; Scheffer, Ingrid E