Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Jonas Straub, Enrico D. H. Konrad, Johanna Gruner, Annick Toutain, Levinus A. Bok, Megan T. Cho, Heather P. Crawford, Holly Dubbs, Ganka Douglas, Rebekah Jobling, Diana Johnson, Bryan Krock, Mohamad A. Mikati, Addie Nesbitt, Joost Nicolai, Meredith Phillips, Annapurna Poduri, Xilma R. Ortiz-Gonzalez, Zoe Powis, Avni SantaniLacey Smith, Alexander P. A. Stegmann, Constance Stumpel, Maaike Vreeburg, Anna Fliedner, Anne Gregor, Heinrich Sticht, Christiane Zweier, Deciphering Dev Disorders Study

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)44-57
Number of pages14
JournalAmerican Journal of Human Genetics
Volume102
Issue number1
DOIs
Publication statusPublished - 4 Jan 2018

Keywords

  • SENSITIVE PARALYTIC MUTANTS
  • AUTISM SPECTRUM DISORDERS
  • UBIQUITIN LIGASE COMPLEX
  • DE-NOVO MUTATIONS
  • INTELLECTUAL DISABILITY
  • MENTAL-RETARDATION
  • SPINE MORPHOGENESIS
  • TUMOR-SUPPRESSOR
  • BREAST-CANCER
  • RHO-GTPASES

Cite this

Straub, J., Konrad, E. D. H., Gruner, J., Toutain, A., Bok, L. A., Cho, M. T., Crawford, H. P., Dubbs, H., Douglas, G., Jobling, R., Johnson, D., Krock, B., Mikati, M. A., Nesbitt, A., Nicolai, J., Phillips, M., Poduri, A., Ortiz-Gonzalez, X. R., Powis, Z., ... Deciphering Dev Disorders Study (2018). Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. American Journal of Human Genetics, 102(1), 44-57. https://doi.org/10.1016/j.ajhg.2017.11.008