Forschung & Innovation
Publikationen
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
PMU Autor*in
Gerhard Kluger
Alle Autor*innen
Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe, Gaetano Cantalupo, Giuseppe Capovilla, Gianluca Casara, Carolina Courage, Marie Deprez, Anne Destrée, Robertino Dilena, Corrie E Erasmus, Madeleine Fannemel, Roar Fjær, Lucio Giordano, Katherine L Helbig, Henrike O Heyne, Joerg Klepper, Gerhard Kluger, Damien Lederer, Monica Lodi, Oliver Maier, Andreas Merkenschlager, Nina Michelberger, Carlo Minetti, Hiltrud Muhle, Judith Phalin, Keri Ramsey, Antonino Romeo, Jens Schallner, Ina Schanze, Marwan Shinawi, Kristel Sleegers, Katalin Sterbova, Steffen Syrbe, Monica Traverso, Andreas Tzschach, Peter Uldall, Rudy Van Coster, Helene Verhelst, Maurizio Viri, Susan Winter, Markus Wolff, Martin Zenker, Leonardo Zoccante, Peter De Jonghe, Ingo Helbig, Pasquale Striano, Johannes R Lemke, Rikke S Møller, Sarah Weckhuysen
Fachzeitschrift
NEUROLOGY
Kurzfassung
Keywords
FEATURES, PHENOTYPE, ONSET, DE-NOVO MUTATIONS, INTELLECTUAL DISABILITY GENES, INFANTILE SPASMS, OHTAHARA SYNDROME, DRAVET SYNDROME, SUPPRESSION-BURST, RETT-SYNDROME