Associated Papers
RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis.
Liu Q et al.
Molecular Genetics & Genomic Medicine, 2025
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Belal H et al.
Human Mutation, 2018
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Straub J et al.
American Journal of Human Genetics, 2018
Identification of novel genetic causes of Rett syndrome-like phenotypes.
Lopes F et al.
Journal of Medical Genetics, 2016
Select a paper to view details