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

Conference Paper

Full Text

Duke Authors

Cited Authors

  • Straub, J; Konrad, EDH; Gruener, J; Toutain, A; Bok, LA; Cho, MT; Crawford, HP; Dubbs, H; Douglas, G; Jobling, R; Johnson, D; Krock, B; Mikati, MA; Nesbitt, A; Nicolai, J; Phillips, M; Poduri, A; Ortiz-Gonzales, XR; Powis, Z; Santani, A; Smith, L; Stegmann, APA; Stumpel, C; Vreeburg, M; Study, DDD; Fliedner, A; Gregor, A; Sticht, H; Zweier, C

Published Date

  • July 1, 2019

Published In

Volume / Issue

  • 27 /

Start / End Page

  • 850 - 851

Published By


  • 2

Electronic International Standard Serial Number (EISSN)

  • 1476-5438

International Standard Serial Number (ISSN)

  • 1018-4813

Conference Name

  • 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)

Conference Location

  • Milan, ITALY

Conference Start Date

  • June 16, 2018

Conference End Date

  • June 19, 2018