3 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...

Data from: Small airway dysfunction in well-treated never-smoking HIV-infected individuals

Andreas Ronit, Inger Hee Mathiesen, Marco Gelpi, Thomas Benfield, Jan Gerstoft, Tacjana Pressler, Anders Christiansen, Jens Lundgren, Jørgen Vestbo & Susanne Dam Nielsen
Global projections from the World Health Organization rank chronic obstructive pulmonary disease (COPD) and HIV as the third and eighth leading causes of death by 2030, respectively. An increasingly large number of individuals will consequently face a double burden of disease. The incidence of COPD is relatively high in the HIV-infected population, and HIV has been shown to be an independent risk factor.

Registration Year

  • 2018
    2
  • 2016
    1

Resource Types

  • Dataset
    3

Affiliations

  • Hvidovre Hospital
    3
  • University of Copenhagen
    2
  • University of Southern Denmark
    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