Dataset

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

Vlaskamp, D. (Creator), Shaw, B. J. (Creator), Burgess, R. (Creator), Mei, D. (Creator), Montomoli, M. (Creator), Xie, H. (Creator), Myers, C. T. (Creator), Bennett, M. (Creator), XiangWei, W. (Creator), Williams, D. (Creator), Maas, S. M. (Creator), Brooks, A. S. (Creator), Mancini, G. (Creator), van de Laar, I. M. B. H. (Creator), Hagen, J. M. (Creator), Ware, T. (Creator), Webster, R. (Creator), MALONE, S. (Creator), Berkovic, S. F. (Creator), Kalnins, R. M. (Creator), Sicca, F. (Creator), Korenke, G. C. (Creator), Ravenswaaij-Arts, van, C. (Creator), Hildebrand, M. S. (Creator), Mefford, H. C. (Creator), Jiang, Y. (Creator), Guerrini, R. (Creator), Scheffer, I. E. (Creator), University of Groningen, 18-Dec-2018

Dataset

  • Danique Vlaskamp (Creator)
  • B. J. Shaw (Creator)
  • R. Burgess (Creator)
  • D. Mei (Creator)
  • M. Montomoli (Creator)
  • H Xie (Creator)
  • Candace T. Myers (Creator)
  • Michael Bennett (Creator)
  • W XiangWei (Creator)
  • D. Williams (Creator)
  • S. M. Maas (Creator)
  • A. S. Brooks (Creator)
  • GMS Mancini (Creator)
  • I.M.B.H. van de Laar (Creator)
  • Julia M. Hagen (Creator)
  • T. Ware (Creator)
  • R Webster (Creator)
  • S MALONE (Creator)
  • S. F. Berkovic (Creator)
  • R. M. Kalnins (Creator)
  • Federica Sicca (Creator)
  • G. Christoph Korenke (Creator)
  • Conny Ravenswaaij-Arts, van (Creator)
  • Michael S. Hildebrand (Creator)
  • H. C. Mefford (Creator)
  • Y. Jiang (Creator)
  • R Guerrini (Creator)
  • I. E. Scheffer (Creator)

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
Date made available18-Dec-2018
PublisherUniversity of Groningen
Temporal coverage2009 - 2013
Geographical coverageAustralia, Italy, the Netherlands, China
Access to the dataset Open
Contact researchdata@rug.nl

    Keywords on Datasets

  • SYNGAP1, Epilepsy, Encephalopathy, Eyelid myoclonia
Related Publications
  1. 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., 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, p. E96-E107 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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ID: 73834940