Identification of Genetic Variants in Status Epilepticus Associated With Fever.

ABSTRACT:

Purpose

Status epilepticus associated with fever (SEF) is often encountered in pediatric emergency departments, and some patients develop neurological emergencies, such as acute encephalopathy (AE). Although numerous genetic variants of developmental and epileptic encephalopathy (DEE) have been reported, the frequency of these disease-associated variants of SEF is unknown. The first aim of this study was to investigate the associated genetic variants of SEF. The second aim was to compare the variations in genes between SEF and DEE.

Method

This retrospective, clinical observational study included patients with SEF or DEE who visited Kobe University Hospital or Kobe University affiliated hospitals and provided consent for a genetic diagnosis of SEF or DEE between January 1, 20

SUBMITTER: Hanafusa H 

PROVIDER: S-EPMC11802276 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature