1. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
- Author
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Schwarz, Niklas, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brünger, Tobias, Hedrich, Ulrike B. S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Klein, Karl Martin, Kousiappa, Ioanna, Kunz, Wolfram S., Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Lejla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Dennis, May, Patrick, Muhle, Hiltrud, Helbig, Ingo, Weber, Yvonne, Schwarz N., Seiffert S., Pendziwiat M., Rademacher A.V., Brunger T., Hedrich U.B.S., Augustijn P.B., Baier H., Bayat A., Bisulli F., Buono R.J., Bruria B.Z., Doyle M.G., Guerrini R., Heimer G., Iacomino M., Kearney H., Klein K.M., Kousiappa I., Kunz W.S., Lerche H., Licchetta L., Lohmann E., Minardi R., McDonald M., Montgomery S., Mulahasanovic L., Oegema R., Ortal B., Papacostas S.S., Ragona F., Granata T., Reif P.S., Rosenow F., Rothschild A., Scudieri P., Striano P., Tinuper P., Tanteles G.A., Vetro A., Zahnert F., Goldberg E.M., Zara F., Lal D., May P., Muhle H., Helbig I., and Weber Y.
- Subjects
Phenotype ,Epilepsy ,Shaw Potassium Channel ,Epilepsy, Generalized ,Seizure ,Whole Exome Sequencing ,Human - Abstract
Neurology : official journal of the American Academy of Neurology 98(20), e2046-e2059 (2022). doi:10.1212/WNL.0000000000200660, Published by Ovid, [S.l.]
- Published
- 2022