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

od 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.
Izdano u Front Physiol (2020)

The ClinGen Epilepsy Gene Curation Expert Panel – bridging the divide between clinical domain knowledge and formal gene curation criteria

od 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.
Izdano u Hum Mutat (2018)

Association of guideline publication and delays to treatment in pediatric status epilepticus

od 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
Izdano u Neurology (2020)

NBEA: developmental disease gene with early generalized epilepsy phenotypes

od 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.
Izdano u Ann Neurol (2018)