Associated Papers
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy.
Langhammer F et al.
Human Molecular Genetics, 2025
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
Variants in RHOBTB2 associated with cancer and rare developmental and epileptic encephalopathy.
Solano E et al.
Frontiers in Pediatrics, 2024
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
Select a paper to view details