Article
Clinical and genetic spectrum of RHOBTB2-related disorders: A study integrating Chinese and international cohorts for genotype-phenotype correlations and clinical subtyping.
Epilepsia - 1 Sept 2026
Liu Ming, Tian Xiaojuan, Ma Yuping, Chen Chunhong, Dai Lifang, Ding Changhong
Abstract excerpt
OBJECTIVE: This study was undertaken to characterize the clinical and genetic spectrum of RHOBTB2-related disorders (RHOBTB2-RDs) in a Chinese population, explore genotype-phenotype correlations, and develop a refined clinical framework to improve diagnosis and management. METHODS: We conducted a comprehensive analysis by integrating data from 12 Chinese patients (five retrospective, seven from literature) with...
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- Adolescent
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Male