The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young
Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar Javier Hernandez, Gregory Webster, Lisa M. Dellefave‐Castillo, Mark W. W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix Karthik, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, Moore Benjamin Shoemaker, Darlene F. Fountain, , Elizabeth M. McNally
This study identifies genetic variants in epilepsy, cardiomyopathy, and arrhythmia genes in a sudden death in the young cohort, finding enrichment of damaging variants and a correlation with younger age at death.
Genome Medicine · Jan 16, 2024Peer-reviewedGenetic & Genomic Medicine