Article
Dynamic changes in the corpus callosum in a case of HIVEP2-related disorder: a case report and literature review.
BMC pediatrics - 10 Mar 2026
Zhu Zetong, Ma Mingshuang, Cui Xiaoyu, Shu Jianbo, Liu Yang
Abstract excerpt
BACKGROUND: Autosomal dominant intellectual developmental disorder type 43 (MRD43) is a rare neurodevelopmental disorder caused by mutations in the HIVEP2 gene. Although previous cases have established core phenotypic features, detailed descriptions of neuroimaging evolution and effective epilepsy management strategies remain limited. This case presents novel findings: it identifies a previously unreported...
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