Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Francesca M. Snoeijen-Schouwenaars, Jans S. van Ool, Judith S. Verhoeven, Petra van Mierlo, Hilde M. H. Braakman, Eric E. Smeets, Joost Nicolai, Jeroen Schoots, Mariel W. A. Teunissen, Rob P. W. Rouhl, In Y. Tan, Helger G. Yntema, Han G. Brunner, Rolph Pfundt, Alexander P. Stegmann, Erik-Jan Kamsteeg, Helenius J. Schelhaas, Marjolein H. Willemsen

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)155-164
Number of pages10
JournalEpilepsia
Volume60
Issue number1
DOIs
Publication statusPublished - Jan 2019

Keywords

  • genetic diagnosis
  • learning disability
  • next generation sequencing
  • seizures
  • DE-NOVO MUTATIONS
  • GENETICS
  • ENCEPHALOPATHY
  • EPIDEMIOLOGY
  • LAMOTRIGINE
  • GENOMICS
  • CHILDREN
  • PEOPLE
  • GRIN2A
  • PAPER

Cite this

Snoeijen-Schouwenaars, F. M., van Ool, J. S., Verhoeven, J. S., van Mierlo, P., Braakman, H. M. H., Smeets, E. E., Nicolai, J., Schoots, J., Teunissen, M. W. A., Rouhl, R. P. W., Tan, I. Y., Yntema, H. G., Brunner, H. G., Pfundt, R., Stegmann, A. P., Kamsteeg, E-J., Schelhaas, H. J., & Willemsen, M. H. (2019). Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. Epilepsia, 60(1), 155-164. https://doi.org/10.1111/epi.14618