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
DOI: https://doi.org/10.5061/dryad.ck70sj0
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 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 available | 18-Dec-2018 |
|---|---|
| Publisher | University of Groningen |
| Temporal coverage | 2009 - 2013 |
| Geographical coverage | Australia, Italy, the Netherlands, China |
| Access to the dataset | Open |
|---|---|
| Contact | researchdata@rug.nl |
- SYNGAP1, Epilepsy, Encephalopathy, Eyelid myoclonia
Keywords on Datasets
Related Publications
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 journal › Article › Academic › peer-review
ID: 73834940