Результаты поиска - Sands, Tristan

A Novel Kv7.3 Variant in the Voltage-Sensing S(4) Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate по Miceli, Francesco, Carotenuto, Lidia, Barrese, Vincenzo, Soldovieri, Maria Virginia, Heinzen, Erin L., Mandel, Arthur M., Lippa, Natalie, Bier, Louise, Goldstein, David B., Cooper, Edward C., Cilio, Maria Roberta, Taglialatela, Maurizio, Sands, Tristan T.

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Tracking multi-site seizure propagation using ictal high gamma activity по Tobochnik, Steven, Bateman, Lisa M., Akman, Cigdem I., Anbarasan, Deepti, Bazil, Carl W., Bell, Michelle, Choi, Hyunmi, Feldstein, Neil A., Kent, Paul F., McBrian, Danielle, McKhann, Guy M., Mendiratta, Anil, Pack, Alison M., Sands, Tristan T., Sheth, Sameer A., Srinivasan, Shraddha, Schevon, Catherine A.

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The ClinGen Epilepsy Gene Curation Expert Panel – bridging the divide between clinical domain knowledge and formal gene curation criteria по Helbig, Ingo, Riggs, Erin Rooney, Barry, Carrie-Anne, Klein, Karl Martin, Dyment, David, Thaxton, Courtney, Sadikovic, Bekim, Sands, Tristan T., Wagnon, Jacy L., Liaquat, Khalida, Cilio, Maria Roberta, Mirzaa, Ghayda, Park, Kristen, Axeen, Erika, Butler, Elizabeth, Bardakjian, Tanya M., Striano, Pasquale, Poduri, Annapurna, Siegert, Rebecca K., Grant, Andrew R., Helbig, Katherine L., Mefford, Heather C.

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KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism по Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, James, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H., Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G. Christoph, Kluger, Gerhard, Mefford, Heather C., Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C., Taglialatela, Maurizio, Weckhuysen, Sarah

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Association of guideline publication and delays to treatment in pediatric status epilepticus по Sánchez Fernández, Iván, Abend, Nicholas S., Amengual-Gual, Marta, Anderson, Anne, Arya, Ravindra, Barcia Aguilar, Cristina, Brenton, James Nicholas, Carpenter, Jessica L., Chapman, Kevin E., Clark, Justice, Farias-Moeller, Raquel, Gaillard, William D., Gaínza-Lein, Marina, Glauser, Tracy, Goldstein, Joshua, Goodkin, Howard P., Guerriero, Réjean M., Lai, Yi-Chen, McDonough, Tiffani, Mikati, Mohamad A., Morgan, Lindsey A., Novotny, Edward, Payne, Eric, Peariso, Katrina, Piantino, Juan, Ostendorf, Adam, Sands, Tristan T., Sannagowdara, Kumar, Tasker, Robert C., Tchapyjnikov, Dimtry, Topjian, Alexis A., Vasquez, Alejandra, Wainwright, Mark S., Wilfong, Angus, Williams, Kowryn, Loddenkemper, Tobias

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Factors associated with long‐term outcomes in pediatric refractory status epilepticus по Gaínza‐Lein, Marina, Barcia Aguilar, Cristina, Piantino, Juan, Chapman, Kevin E., Sánchez Fernández, Iván, Amengual‐Gual, Marta, Anderson, Anne, Appavu, Brian, Arya, Ravindra, Brenton, James Nicholas, Carpenter, Jessica L., Clark, Justice, Farias‐Moeller, Raquel, Gaillard, William D., Glauser, Tracy A., Goldstein, Joshua L., Goodkin, Howard P., Huh, Linda, Kahoud, Robert, Kapur, Kush, Lai, Yi‐Chen, McDonough, Tiffani L., Mikati, Mohamad A., Morgan, Lindsey A., Nayak, Anuranjita, Novotny, Edward, Ostendorf, Adam P., Payne, Eric T., Peariso, Katrina, Reece, Latania, Riviello, James, Sannagowdara, Kumar, Sands, Tristan T., Sheehan, Theodore, Tasker, Robert C., Tchapyjnikov, Dmitry, Vasquez, Alejandra, Wainwright, Mark S., Wilfong, Angus, Williams, Korwyn, Zhang, Bo, Loddenkemper, Tobias

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Benzodiazepine administration patterns before escalation to second‐line medications in pediatric refractory convulsive status epilepticus по Sheehan, Theodore, Amengual‐Gual, Marta, Vasquez, Alejandra, Abend, Nicholas S., Anderson, Anne, Appavu, Brian, Arya, Ravindra, Barcia Aguilar, Cristina, Brenton, J. Nicholas, Carpenter, Jessica L., Chapman, Kevin E., Clark, Justice, Farias‐Moeller, Raquel, Gaillard, William D., Gaínza‐Lein, Marina, Glauser, Tracy A., Goldstein, Joshua L., Goodkin, Howard P., Guerriero, Réjean M., Huh, Linda, Jackson, Michele, Kapur, Kush, Kahoud, Robert, Lai, Yi‐Chen, McDonough, Tiffani L., Mikati, Mohamad A., Morgan, Lindsey A., Novotny, Edward J., Ostendorf, Adam P., Payne, Eric T., Peariso, Katrina, Piantino, Juan, Reece, Latania, Riviello, James J., Sands, Tristan T., Sannagowdara, Kumar, Shellhaas, Renee, Smith, Garnett, Tasker, Robert C., Tchapyjnikov, Dmitry, Topjian, Alexis A., Wainwright, Mark S., Wilfong, Angus, Williams, Korwyn, Zhang, Bo, Loddenkemper, Tobias

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NBEA: developmental disease gene with early generalized epilepsy phenotypes по Mulhern, Maureen S., Stumpel, Constance, Stong, Nicholas, Brunner, Han G., Bier, Louise, Lippa, Natalie, Riviello, James, Rouhl, Rob P.W., Kempers, Marlies, Pfundt, Rolph, Stegmann, Alexander P.A., Kukolich, Mary K., Telegrafi, Aida, Lehman, Anna, Lopez-Rangel, Elena, Houcinat, Nada, Barth, Magalie, den Hollander, Nicolette, Hoffer, Mariette JV, Weckhuysen, Sarah, Roovers, Jolien, Djemie, Tania, Barca, Diana, Ceulemans, Berten, Craiu, Dana, Lemke, Johannes R., Korff, Christian, Mefford, Heather C., Meyers, Candace T., Siegler, Zsuzsanna, Hiatt, Susan M., Cooper, Gregory M., Bebin, E. Martina, Snijders-Blok, Lot, Veenstra-Knol, Hermine E., Baugh, Evan H., Brilstra, E.H., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Revah-Politi, Anya, Pereira, Elaine, McBrian, Danielle, Pacault, Mathilde, Isidor, Bertrand, Le Caignec, Cedric, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Heinzen, Erin L., Goldstein, David B., Stevens, Servi J. C., Sands, Tristan T.

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CSNK2B: a broad spectrum of neurodevelopmental disability and epilepsy severity по Ernst, Michelle E., Baugh, Evan H., Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen S., Kushary, Sulagna, Akman, Cigdem I., Heinzen, Erin L., Yeh, Raymond, Bi, Weimin, Hanchard, Neil A., Burrage, Lindsay C., Leduc, Magalie S., Chong, Josephine S.C., Bend, Renee, Lyons, Michael J., Lee, Jennifer A., Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, van Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia M.S., Madan-Khetarpal, Suneeta, Infante, Elena M., Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric W., Schultz-Rogers, Laura E., Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa S., Ferber, Matthew J., Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan M., Pais, Lynn, Monaghan, Kristin G., Goldstein, David B., Sands, Tristan T., Aggarwal, Vimla

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