2 Works

Data from: Clinical spectrum of STX1B-related epileptic disorders

Stefan Wolking, Patrick May, Davide Mei, Rikke S. Møller, Simona Balestrini, Katherine L. Helbig, Cecilia Desmettre Altuzarra, Nicolas Chatron, Charu Kaiwar, Katharina Stoehr, 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 … & 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. Results: We...

Data from: Electromagnetic source imaging in presurgical workup of patients with epilepsy: a prospective study

Lene Duez, Hatice Tankisi, Peter O. Hansen, Per Sidenius, Anne Sabers, Lars H. Pinborg, Martin Fabricius, György Rásonyi, Guido Rubboli, Birthe Pedersen, Anne-Mette Leffers, Peter Uldall, Bo Jespersen, Jannick Brennum, Otto M. Henriksen, Anders Fuglsang-Frederiksen & Sándor Beniczky
Objective: To determine the diagnostic accuracy and clinical utility of electromagnetic source imaging (EMSI) in presurgical evaluation of patients with epilepsy. Methods: We prospectively recorded magnetoencephalography (MEG) simultaneously with electroencephalography (EEG) and performed EMSI, comprising electric (ESI), magnetic source imaging (MSI) and analysis of combined MEG-EEG datasets (cEMSI), using two different software packages. As reference standard for irritative zone (IZ) and seizure onset zone (SOZ) we used intracranial recordings and for localization accuracy, outcome one...

Registration Year

  • 2018
    2

Resource Types

  • Dataset
    2

Affiliations

  • Hvidovre Hospital
    2
  • Massachusetts General Hospital
    1
  • University of Antwerp
    1
  • Children's Hospital Colorado
    1
  • Lyon Neuroscience Research Center
    1
  • University of Milan
    1
  • Newcastle University
    1
  • Meyer Children's Hospital
    1
  • Wellcome Centre for Human Genetics
    1
  • Children's Hospital of Philadelphia
    1