학술논문
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young
Document Type
article
Author
Megan J. Puckelwartz; Lorenzo L. Pesce; Edgar J. Hernandez; Gregory Webster; Lisa M. Dellefave-Castillo; Mark W. Russell; Sarah S. Geisler; Samuel D. Kearns; Felix Karthik; Susan P. Etheridge; Tanner O. Monroe; Tess D. Pottinger; Prince J. Kannankeril; M. Benjamin Shoemaker; Darlene Fountain; Dan M. Roden; Meghan Faulkner; Heather M. MacLeod; Kristin M. Burns; Mark Yandell; Martin Tristani-Firouzi; Alfred L. George; Elizabeth M. McNally
Source
Genome Medicine, Vol 16, Iss 1, Pp 1-13 (2024)
Subject
Language
English
ISSN
1756-994X
Abstract
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