The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.

ABSTRACT:

Background

Sudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characterize genetic variation in an SDY cohort using whole genome sequencing.

Methods

The SDY Case Registry is a National Institutes of Health/Centers for Disease Control and Prevention surveillance effort to discern the prevalence, causes, and risk factors for SDY. The SDY Case Registry prospectively collected clinical data and DNA biospecimens from SDY cases < 20 years of age. SDY cases were collected from medical examiner and coroner offices spanning 13 US jurisdictions from 2015 to 2019. The cohort included 211 children (median age 0.33 year; range 0-20 years),

SUBMITTER: Puckelwartz MJ 

PROVIDER: S-EPMC10792876 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature