未登录 New onset refractory status epilepticus: Summary of the NORSE Institute roundtable during the 2023 American Epilepsy Society meeting, Orlando, Florida Hanin, Aurelie; Eschbach, Krista; Gofton, Teneille E.; Gopaul, Margaret; Howe, Charles L.; Lai, Yi-Chen; Koh, Sookyong; Shen, Haying; Hirsch, Lawrence J. 分享 收藏
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Review and standard operating procedures for collection of biospecimens and analysis of biomarkers in new onset refractory status epilepticus 新发难治性癫痫持续状态生物样本收集和生物标志物分析的回顾和标准操作程序 Hanin, Aurelie; Cespedes, Jorge; Pulluru, Yashwanth; Gopaul, Margaret; Aronica, Eleonora; Decampo, Danielle; Helbig, Ingo; Howe, Charles L.; Huttner, Anita; Koh, Sookyong; Navarro, Vincent; Taraschenko, Olga; Vezzani, Annamaria; Wilson, Michael R.; Xian, Julie; Gaspard, Nicolas; Hirsch, Lawrence J. 分享 收藏
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The GluN2A Subunit of the NMDA Receptor Modulates the Rate of Functional Maturation in Parvalbumin-positive Interneurons Camp, Chad R.; Shapiro, Lindsey; Vlachos, Anna; Perszyk, Riley E.; Shariatzadeh, Nima; White, Jacob; Sanchez, Russell; Koh, Sookyong; Escayg, Andrew; McBain, Christopher 分享 收藏
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease Leal-Pardinas, Fernanda; Truty, Rebecca; McKnight, Dianalee A.; Johnson, Britt; Morales, Ana; Bristow, Sara L.; Pang, Tiffany Yar; Cohen-Pfeffer, Jessica; Izzo, Emanuela; Sankar, Raman; Koh, Sookyong; Wirrell, Elaine C.; Millichap, John J.; Aradhya, Swaroop 分享 收藏
COVID-19 vaccine in patients with Dravet syndrome: Observations and real-world experiences 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. 分享 收藏
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy Calame, Daniel G.; Bakhtiari, Somayeh; Logan, Rachel; Coban-Akdemir, Zeynep; Du, Haowei; Mitani, Tadahiro; Fatih, Jawid M.; Hunter, Jill V.; Herman, Isabella; Pehlivan, Davut; Jhangiani, Shalini N.; Person, Richard; Schnur, Rhonda E.; Jin, Sheng Chih; Bilguvar, Kaya; Posey, Jennifer E.; Koh, Sookyong; Firouzabadi, Saghar G.; Alehabib, Elham; Tafakhori, Abbas; Esmkhani, Sahra; Gibbs, Richard A.; Noureldeen, Mahmoud M.; Zaki, Maha S.; Marafi, Dana; Darvish, Hossein; Kruer, Michael C.; Lupski, James R. 分享 收藏
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Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care Sanchez Russo, Rossana; Gambello, Michael J.; Murphy, Melissa M.; Aberizk, Katrina; Black, Emily; Burrell, T. Lindsey; Carlock, Grace; Cubells, Joseph F.; Epstein, Michael T.; Espana, Roberto; Goines, Katrina; Guest, Ryan M.; Klaiman, Cheryl; Koh, Sookyong; Leslie, Elizabeth J.; Li, Longchuan; Novacek, Derek M.; Saulnier, Celine A.; Sefik, Esra; Shultz, Sarah; Walker, Elaine; White, Stormi Pulver; Mulle, Jennifer Gladys 分享 收藏
Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: Results from 4246 tests Pang, Tiffany; Leal-Pardinas, Fernanda; Truty, Rebecca; McKnight, Dianalee A.; Johnson, Britt; Morales, Ana; Bristow, Sara L.; Izzo, Emanuela; Cohen-Pfeffer, Jessica; Sankar, Raman; Koh, Sookyong; Wirrell, Elaine C.; Millichap, John J.; Aradhya, Swaroop 分享 收藏
Design and implementation of electronic health record common data elements for pediatric epilepsy: Foundations for a learning health care system Grinspan, Zachary M.; Patel, Anup D.; Shellhaas, Renee A.; Berg, Anne T.; Axeen, Erika T.; Bolton, Jeffrey; Clarke, David F.; Coryell, Jason; Gaillard, William D.; Goodkin, Howard P.; Koh, Sookyong; Kukla, Alison; Mbwana, Juma S.; Morgan, Lindsey A.; Singhal, Nilika S.; Storey, Margaret M.; Yozawitz, Elissa G.; Abend, Nicholas S.; Fitzgerald, Mark P.; Fridinger, Sara E.; Helbig, Ingo; Massey, Shavonne L.; Prelack, Marisa S.; Buchhalter, Jeffrey 分享 收藏
Anakinra usage in febrile infection related epilepsy syndrome: an international cohort Lai, Yi-Chen; Muscal, Eyal; Wells, Elizabeth; Shukla, Nikita; Eschbach, Krista; Hyeong Lee, Ki; Kaliakatsos, Marios; Desai, Nevedita; Wickstrom, Ronny; Viri, Maurizio; Freri, Elena; Granata, Tiziana; Nangia, Srishti; Dilena, Robertino; Brunklaus, Andreas; Wainwright, Mark S.; Gorman, Mark P.; Stredny, Coral M.; Asiri, Abdurhman; Hundallah, Khalid; Doja, Asif; Payne, Eric; Wirrell, Elaine; Koh, Sookyong; Carpenter, Jessica L.; Riviello, James 分享 收藏
Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report Murphy, Melissa M.; Burrell, T. Lindsey; Cubells, Joseph F.; Epstein, Michael T.; Espana, Roberto; Gambello, Michael J.; Goines, Katrina; Klaiman, Cheryl; Koh, Sookyong; Russo, Rossana Sanchez; Saulnier, Celine A.; Walker, Elaine; Mulle, Jennifer Gladys 分享 收藏
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Peripherally derived T regulatory and γδ T cells have opposing roles in the pathogenesis of intractable pediatric epilepsy Xu, Dan; Robinson, Andrew P.; Ishii, Toshiyuki; Duncan, D'Anne S.; Alden, Tord D.; Goings, Gwendolyn E.; Ifergan, Igal; Podojil, Joseph R.; Penaloza-MacMaster, Pablo; Kearney, Jennifer A.; Swanson, Geoffrey T.; Miller, Stephen D.; Koh, Sookyong 分享 收藏
Early-Life Epilepsies and the Emerging Role of Genetic Testing Berg, Anne T.; Coryell, Jason; Saneto, Russell P.; Grinspan, Zachary M.; Alexander, John J.; Kekis, Mariana; Sullivan, Joseph E.; Wirrell, Elaine C.; Shellhaas, Renee A.; Mytinger, John R.; Gaillard, William D.; Kossoff, Eric H.; Valencia, Ignacio; Knupp, Kelly G.; Wusthoff, Courtney; Keator, Cynthia; Dobyns, William B.; Ryan, Nicole; Loddenkemper, Tobias; Chu, Catherine J.; Novotny, Edward J., Jr.; Koh, Sookyong 分享 收藏
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