Paracelsus Medizinische Privatuniversität (PMU)

Forschung & Innovation
Publikationen

Clinical spectrum of

#2019
#NEUROLOGY

PMU Autor*in
Gerhard Kluger

Alle Autor*innen
Stefan Wolking, Patrick May, Davide Mei, Rikke S Møller, Simona Balestrini, Katherine L Helbig, Cecilia Desmettre Altuzarra, Nicolas Chatron, Charu Kaiwar, Katharina Stöhr, Peter Widdess-Walsh, Bryce A Mendelsohn, Adam Numis, Maria R Cilio, Wim Van Paesschen, Lene L Svendsen, Stephanie Oates, Elaine Hughes, Sushma Goyal, Kathleen Brown, Margarita Sifuentes Saenz, Thomas Dorn, Hiltrud Muhle, Alistair T Pagnamenta, Dimitris V Vavoulis, Samantha J L Knight, Jenny C Taylor, Maria Paola Canevini, Francesca Darra, Ralitza H Gavrilova, Zöe Powis, Shan Tang, Justus Marquetand, Martin Armstrong, Duncan McHale, Eric W Klee, Gerhard Kluger, Daniel H Lowenstein, Sarah Weckhuysen, Deb K Pal, Ingo Helbig, Renzo Guerrini, Rhys H Thomas, Mark I Rees, Gaetan Lesca, Sanjay M Sisodiya, Yvonne G Weber, Dennis Lal, Carla Marini, Holger Lerche, Julian Schubert

Fachzeitschrift
NEUROLOGY

Kurzfassung

Keywords

PROTEIN, ONSET, GENETIC-VARIATION, HETEROGENEITY, DE-NOVO MUTATIONS, GENERALIZED EPILEPSY, SCN1A, FEBRILE SEIZURES PLUS, SODIUM-CHANNEL, STXBP1