13073_2024_1284_MOESM1_ESM.docx (529.13 kB)
Additional file 1 of The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young
journal contribution
posted on 2024-01-17, 05:01 authored by 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. McNallyAdditional File 1: Table S1. Detailed Cause of Death. Table S2. Epilepsy Gene panels. Table S3. Cardiomyopathy and Arrhythmia Gene panels. Table S4. Pathogenic and Likely pathogenic, Mendelian variants as ranked by GEM. Table S5. Enrichment of variants in epilepsy or cardiac genes in the SDY cohort compared to an ancestry and sex matched 1000 genomes cohort. Table S6. Linear regression of age at death against number of rare epilepsy variants. Figure S1. Summary of exclusion and inclusion criteria for the SDY Case Registry. Figure S2. The SDY cohort had enriched GEM-damaging (A) epilepsy and (B) CMAR2 gene burden compared to a sex- and ancestry-matched control cohort.
