Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

Nuria C. Bramswig*, Hermann-Josef Luedecke, Fadi F. Hamdan, Janine Altmueller, Filippo Beleggia, Nursel H. Elcioglu, Catharine Freyer, Erica H. Gerkes, Yasemin Kendir Demirkol, Kelly G. Knupp, Alma Kuechler, Yun Li, Daniel H. Lowenstein, Jacques L. Michaud, Kristen Park, Alexander P. A. Stegmann, Hermine E. Veenstra-Knol, Thomas Wieland, Bernd Wollnik, Hartmut EngelsTim M. Strom, Tjitske Kleefstra, Dagmar Wieczorek

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)821-834
Number of pages14
JournalHuman Genetics
Volume136
Issue number7
DOIs
Publication statusPublished - Jul 2017

Keywords

  • COPY-NUMBER VARIATION
  • DE-NOVO MUTATIONS
  • CORPUS-CALLOSUM
  • CANDIDATE GENES
  • CRITICAL REGION
  • DELETION
  • 1Q44
  • SEIZURES
  • ENCEPHALOPATHIES
  • ABNORMALITIES

Cite this

Bramswig, N. C., Luedecke, H-J., Hamdan, F. F., Altmueller, J., Beleggia, F., Elcioglu, N. H., Freyer, C., Gerkes, E. H., Demirkol, Y. K., Knupp, K. G., Kuechler, A., Li, Y., Lowenstein, D. H., Michaud, J. L., Park, K., Stegmann, A. P. A., Veenstra-Knol, H. E., Wieland, T., Wollnik, B., ... Wieczorek, D. (2017). Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Human Genetics, 136(7), 821-834. https://doi.org/10.1007/s00439-017-1795-6