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 K EtheridgeSusan P EtheridgeTanner O MonroeTess D PottingerPrince J KannankerilM Benjamin ShoemakerDarlene FountainDan M RodenHeather MacLeodKristin M BurnsMark YandellMartin Tristani-FirouziAlfred L GeorgeElizabeth M McNallyPublished in: medRxiv : the preprint server for health sciences (2023)
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.