The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis.

ABSTRACT:

Background and purpose

Acute necrotizing encephalopathy (ANE) is a rare and severe type of parainfectious encephalopathy. The pathogenesis and genetic features of ANE remain underinvestigated. In this study we aimed to characterize the genetic profiles of ANE, including novel variants and pathways.

Methods

We conducted a retrospective cohort study of 16 ANE patients and 7 controls, collecting clinical data, cerebrospinal fluid (CSF) findings, neuroimaging findings, and treatment information. Whole-exome sequencing (WES) was performed to investigate potential function-impacting genetic mutations in RANBP2, CPT II, and RNH1. Enrichment analyses were conducted to explore the associated pathways.

Results

The median age of the ANE patients was 21 years

SUBMITTER: Geng C 

PROVIDER: S-EPMC12303680 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature