Alternating Hemispheric Diffusion-Weighted Imaging Abnormalities: A Characteristic Imaging Pattern in RHOBTB2 Encephalopathy
RADIOLOGICAL AWARENESSRHOBTB2-related developmental and epileptic encephalopathy, first molecularly characterized in 2018, is an emerging genetic disorder that poses unique diagnostic challenges for radiologists [1].De novo heterozygous missense variants in RHOBTB2, which encodes an atypical Rho GTPase involved in protein degradation pathways, produce a distinctive clinical-radiological phenotype.Recognition of this phenotype is gaining recognition as genetic testing expands into pediatric neurology practice [1,2].Affected children typically present with global developmental delay, infantile-onset epilepsy, movement
Authors
- Yu Guo
- Xuehua Peng
Institutions
- Wuhan Children's Hospital (CN)
- Wuhan Medical Center for Women and Children (CN)
Publication Details
- Journal
- Korean Journal of Radiology
- Published
- 2026-01-01
- DOI
- https://doi.org/10.3348/kjr.2025.1807
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00