RHOBTB2

Publications

Belal H et al. De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy. Hum Mutat. 2018;39(8):1070-5. PMID: 29768694.

Hamaguchi M et al. DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A. 2002;99(21):13647-52. PMID: 12370419.

Straub J et al. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. Am J Hum Genet. 2018;102(1):44-57. PMID: 29276004.

Wilkins A et al. RhoBTB2 is a substrate of the mammalian Cul3 ubiquitin ligase complex. Genes Dev. 2004;18(8):856-61. PMID: 15107402.

Zagaglia S et al. RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood. Neurology. 2021;96(11):e1539-e50. PMID: 33504645.