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

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

Dataset

Description

The study is based on 57 patients, median age 8 with SYNGAP1 mutations or microdeletions.
The set contains three files.
Supplementary Table 1: Evaluation of pathogenicity of all SYNGAP1 variants
Supplemental Table 2: Phenotypes of individuals with SYNGAP1 variants
Supplementary Table 3: Anti-epileptic drug use in patients with SYNGAP1 mutations or deletions
Datum van beschikbaarheid18-dec.-2018
UitgeverDryad Digital Repository
Tijdelijke dekking2009 - 2013
Geografische dekkingAustralia, Italy, the Netherlands, China
  • SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

    Vlaskamp, D. R. M., Shaw, B. J., Burgess, R., Mei, D., Montomoli, M., Xie, H., Myers, C. T., Bennett, M. F., XiangWei, W., Williams, D., Maas, S. M., Brooks, A. S., Mancini, G. M. S., van de Laar, I. M. B. H., van Hagen, J. M., Ware, T. L., Webster, R. I., Malone, S., Berkovic, S. F. & Kalnins, R. M. & 8 anderen, Sicca, F., Korenke, G. C., van Ravenswaaij-Arts, C. M. A., Hildebrand, M. S., Mefford, H. C., Jiang, Y., Guerrini, R. & Scheffer, I. E., 8-jan.-2019, In: Neurology. 92, 2, blz. E96-E107 12 blz.

    OnderzoeksoutputAcademicpeer review

    Open Access
    Bestand
    110 Citaten (Scopus)
    239 Downloads (Pure)

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