Early mortality in STXBP1-related disorders.

ABSTRACT:

Introduction

Pathogenic variants in STXBP1 cause a spectrum of disorders mainly consisting of developmental and epileptic encephalopathy (DEE), often featuring drug-resistant epilepsy. An increased mortality risk occurs in individuals with drug-resistant epilepsy and DEE, with sudden unexpected death in epilepsy (SUDEP) often the major cause of death. This study aimed to identify the rate and causes of mortality in STXBP1-related disorders.

Methods

Through an international call, we analyzed data on individuals with STXBP1 pathogenic variants, who passed away from causes related to their disease.

Results

We estimated a mortality rate of 3.2% (31/966), based on the STXBP1 Foundation and the STXBP1 Global Connect registry. In total, we analyzed data on 40 individuals (23

SUBMITTER: Furia F 

PROVIDER: S-EPMC11828786 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature