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