RHOBTB2 gene-related developmental and epileptic encephalopathy
Author:
Publisher
Medknow
Subject
General Neuroscience,Pediatrics, Perinatology and Child Health
Reference7 articles.
1. Berthold J, Schenkova K, Rivero F Rho GTPases of the RhoBTB subfamily and tumorigenesis. Acta Pharmacol Sin 2008;29:285-95.
2. Ji W, Rivero F Atypical Rho GTPases of the RhoBTB subfamily: Roles in vesicle trafficking and tumorigenesis. Cells 2016;5:28.
3. Missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in drosophila;Straub;Am J Hum Genet,2018
4. Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation;Knijnenburg;Neurol Genet,2020
5. De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy;Belal;Hum Mutat,2018
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