Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus.

ABSTRACT:

Introduction

Febrile infection-related epilepsy syndrome (FIRES) is a severe childhood epilepsy with refractory status epilepticus after a typically mild febrile infection. The etiology of FIRES is largely unknown, and outcomes in most individuals with FIRES are poor.

Methods

Here, we reviewed the current state-of-the art genetic testing strategies in individuals with FIRES. We performed a systematic computational analysis to identify individuals with FIRES and characterize the clinical landscape using the Electronic Medical Records (EMR). Among 25 individuals with a confirmed FIRES diagnosis over the last decade, we performed a comprehensive review of genetic testing and other diagnostic testing.

Results

Management included use of steroids and intravenous immunoglobu

SUBMITTER: deCampo D 

PROVIDER: S-EPMC10106651 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature