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

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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
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article

Alternating Hemispheric Diffusion-Weighted Imaging Abnormalities: A Characteristic Imaging Pattern in RHOBTB2 Encephalopathy

Yu Guo, Xuehua Peng
Korean Journal of Radiology
RNA regulation and disease
article

Alternating Hemispheric Diffusion-Weighted Imaging Abnormalities: A Characteristic Imaging Pattern in RHOBTB2 Encephalopathy

Yu Guo, Xuehua Peng
article en

Abstract

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

Korean Journal of RadiologyVol. 27(4)
Wuhan Children's Hospital (CN), Wuhan Medical Center for Women and Children (CN)
Climate action
Openalex Percentile: Top 9%
RNA regulation and disease
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