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

Megan J PuckelwartzLorenzo L PesceEdgar J HernandezGregory WebsterLisa M Dellefave-CastilloMark W RussellSarah S GeislerSamuel D KearnsFelix KarthikSusan P EtheridgeTanner O MonroeTess D PottingerPrince J KannankerilM Benjamin ShoemakerDarlene FountainDan M RodenMeghan FaulknerHeather M MacLeodKristin M BurnsMark YandellMartin Tristani-FirouziAlfred L GeorgeElizabeth M McNally

Published in: Genome medicine (2024)

While damaging cardiomyopathy and arrhythmia genes are recognized contributors to SDY, we also observed an enrichment in epilepsy-related genes in the SDY cohort and a correlation between rare epilepsy variation and younger age at death. These findings emphasize the importance of considering epilepsy genes when evaluating SDY.

Keyphrases

genome wide
heart failure
temporal lobe epilepsy
gene expression
copy number
middle aged
transcription factor