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Radiological findings highlight imaging patterns in RHOBTB2 encephalopathy, suggesting improved diagnosis in affected children.
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].
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Guo et al. (2026) studied this question.
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