De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila

Date:
Tuesday, Jun 19, 2018 10:00am – 11:15am
Conference:
Authors:
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, Zöe Powis, Avni B. Santani, Lacey Smith, Alexander P.A. Stegmann, Constance Stumpel, Maaike Vreeburg, Deciphering Developmental Disorders Study, Anna Fliedner, Anne Gregor, Heinrich Sticht, Christiane Zweier