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