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 J 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
OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B , encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools...
February 8, 2019: Neurology