Structural brain MRI abnormalities in <i>SCN1A</i>-, <i>SCN2A</i>-, <i>SCN3A</i>-, and <i>SCN8A</i>-related epilepsies: a cohort study.

ABSTRACT:

Purpose

To characterize the prevalence and patterns of structural brain magnetic resonance imaging (MRI) abnormalities in children with genetically confirmed SCN1A-, SCN2A-, SCN3A-, or SCN8A-related epilepsy and to identify genotype-specific imaging features.

Methods

We retrospectively analyzed brain MRI findings from a single-center cohort of 139 pediatric patients with pathogenic variants of SCN1A (n = 114), SCN2A (n = 17), SCN3A (n = 1), or SCN8A (n = 7), evaluated between 2010 and 2023. MRI abnormalities were categorized using a standardized classification framework and compared across the genotypes.

Results

MRI abnormalities were identified in 52 of the 139 patients (37.4%). The m

SUBMITTER: Ahn D 

PROVIDER: S-EPMC12819171 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature