NBEA: Developmental disease gene with early generalized epilepsy phenotypes

Maureen S. Mulhern, Constance Stumpel, Nicholas Stong, Han G. Brunner, Louise Bier, Natalie Lippa, James Riviello, Rob P. W. Rouhl, Marlies Kempers, Rolph Pfundt, Alexander P. A. Stegmann, Mary K. Kukolich, Aida Telegrafi, Anna Lehman, Elena Lopez-Rangel, Nada Houcinat, Magalie Barth, Nicolette den Hollander, Mariette J. V. Hoffer, Sarah WeckhuysenJolien Roovers, Tania Djemie, Diana Barca, Berten Ceulemans, Dana Craiu, Johannes R. Lemke, Christian Korff, Heather C. Mefford, Candace T. Meyers, Zsuzsanna Siegler, Susan M. Hiatt, Gregory M. Cooper, E. Martina Bebin, Lot Snijders Blok, Hermine E. Veenstra-Knol, Evan H. Baugh, Eva H. Brilstra, Catharina M. L. Volker-Touw, Ellen van Binsbergen, Anya Revah-Politi, Elaine Pereira, Danielle McBrian, Mathilde Pacault, Bertrand Isidor, Cedric Le Caignec, Brigitte Gilbert-Dussardier, Frederic Bilan, Erin L. Heinzen, David B. Goldstein, Servi J. C. Stevens, CAUSES Study, EuroEPINOMICS-RES-MAE Working Grp

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)788-795
Number of pages8
JournalAnnals of Neurology
Volume84
Issue number5
DOIs
Publication statusPublished - Nov 2018

Keywords

  • DE-NOVO MUTATIONS
  • NEUROBEACHIN
  • AUTISM
  • FRAMEWORK
  • SPECTRUM
  • DELETION
  • PATIENT

Cite this

Mulhern, M. S., Stumpel, C., Stong, N., Brunner, H. G., Bier, L., Lippa, N., Riviello, J., Rouhl, R. P. W., Kempers, M., Pfundt, R., Stegmann, A. P. A., Kukolich, M. K., Telegrafi, A., Lehman, A., Lopez-Rangel, E., Houcinat, N., Barth, M., den Hollander, N., Hoffer, M. J. V., ... EuroEPINOMICS-RES-MAE Working Grp (2018). NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Annals of Neurology, 84(5), 788-795. https://doi.org/10.1002/ana.25350