PRRT2-related phenotypes in patients with a 16p11.2 deletion

Danique R. M. Vlaskamp, Petra M. C. Callenbach, Patrick Rump, Lucia A. A. Giannini, Eva H. Brilstra, Trijnie Dijkhuizen, Yvonne J. Vos, Anne-Marie F. van der Kevie-Kersemaekers, Jeroen Knijnenburg, Nicole de Leeuw, Rick van Minkelen, Claudia A. L. Ruivenkamp, Alexander P. A. Stegmann, Oebele F. Brouwer, Conny M. A. van Ravenswaaij-Arts*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)265-269
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume62
Issue number4
DOIs
Publication statusPublished - Apr 2019

Keywords

  • Benign infantile epilepsy
  • Seizure
  • Movement disorder
  • Sequencing
  • Microarray
  • PAROXYSMAL KINESIGENIC DYSKINESIA
  • INFANTILE CONVULSIONS
  • PRRT2
  • MUTATIONS
  • DUPLICATION
  • LEADS

Cite this

Vlaskamp, D. R. M., Callenbach, P. M. C., Rump, P., Giannini, L. A. A., Brilstra, E. H., Dijkhuizen, T., Vos, Y. J., van der Kevie-Kersemaekers, A-M. F., Knijnenburg, J., de Leeuw, N., van Minkelen, R., Ruivenkamp, C. A. L., Stegmann, A. P. A., Brouwer, O. F., & van Ravenswaaij-Arts, C. M. A. (2019). PRRT2-related phenotypes in patients with a 16p11.2 deletion. European Journal of Medical Genetics, 62(4), 265-269. https://doi.org/10.1016/j.ejmg.2018.08.002