The role of sodium channels in sudden unexpected death in pediatrics.

ABSTRACT:

Background

Sudden Unexpected Death in Pediatrics (SUDP) is a tragic event, likely caused by the complex interaction of multiple factors. The presence of hippocampal abnormalities in many children with SUDP suggests that epilepsy-related mechanisms may contribute to death, similar to Sudden Unexplained Death in Epilepsy. Because of known associations between the genes SCN1A and SCN5A and sudden death, and shared mechanisms and patterns of expression in genes encoding many voltage-gated sodium channels (VGSCs), we hypothesized that individuals dying from SUDP have pathogenic variants across the entire family of cardiac arrhythmia- and epilepsy-associated VGSC genes.

Methods

To address this hypothesis, we evaluated whole-exome sequencing data from infants and children with SUDP

SUBMITTER: Rochtus AM 

PROVIDER: S-EPMC7434613 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature