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
Straub, Jonas J; Konrad, Enrico D H EDH; Grüner, Johanna J; Toutain, Annick A; Bok, Levinus A LA; Cho, Megan T MT; Crawford, Heather P HP; Dubbs, Holly H; Douglas, Ganka G; Jobling, Rebekah R; Johnson, Diana D; Krock, Bryan B; Mikati, Mohamad A MA; Nesbitt, Addie A; Nicolai, Joost J; Phillips, Meredith M; Poduri, Annapurna A; Ortiz-Gonzalez, Xilma R XR; Powis, Zöe Z; Santani, Avni A; Smith, Lacey L; Stegmann, Alexander P A APA; Stumpel, Constance C; Vreeburg, Maaike M; , ; Fliedner, Anna A; Gregor, Anne A; Sticht, Heinrich H; Zweier, Christiane C