Data from: SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy

  • Danique R. M. Vlaskamp (Contributor)
  • Benjamin J. Shaw (Contributor)
  • Rosemary Burgess (Contributor)
  • Davide Mei (Contributor)
  • Martino Montomoli (Contributor)
  • Han Xie (Contributor)
  • Candace T. Myers (Contributor)
  • Mark F. Bennett (Contributor)
  • Wenshu Xiangwei (Contributor)
  • Danielle Williams (Contributor)
  • Saskia Maas (Contributor)
  • Alice S. Brooks (Contributor)
  • Grazia M. S. Mancini (Contributor)
  • Ingrid M. B. H. van de Laar (Contributor)
  • Johanna M. van Hagen (Contributor)
  • Tyson L. Ware (Contributor)
  • Richard I. Webster (Contributor)
  • Stephen Malone (Contributor)
  • Samuel F. Berkovic (Contributor)
  • Renate M. Kalnins (Contributor)
  • Federico Sicca (Contributor)
  • G. Christoph Korenke (Contributor)
  • Conny M.A. Van Ravenwaaij-Arts (Contributor)
  • Michael S. Hildebrand (Contributor)
  • Heather C. Mefford (Contributor)
  • Yuwu Jiang (Contributor)
  • Renzo Guerrini (Contributor)
  • Ingrid E. Scheffer (Contributor)
  • Grazia M. S. Mancini (Contributor)
  • Richard I. Webster (Contributor)
  • Renzo Guerrini (Contributor)

Dataset

Description

Objective. To delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort. Methods. Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic SYNGAP1 vari...
Date made available4 Sept 2019
PublisherZENODO

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