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Article

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.

Proceedings of the National Academy of Sciences of the United States of America - 28 Dec 2021

Halvorsen Matthew, Gould Laura, Wang Xiaohan, Grant Gariel, Moya Raquel, Rabin Rachel, Ackerman Michael J, Tester David J, Lin Peter T, Pappas John G, Maurano Matthew T, Goldstein David B, Tsien Richard W, Devinsky Orrin

Abstract excerpt

Sudden unexplained death in childhood (SUDC) is an understudied problem. Whole-exome sequence data from 124 "trios" (decedent child, living parents) was used to test for excessive de novo mutations (DNMs) in genes involved in cardiac arrhythmias, epilepsy, and other disorders. Among decedents, nonsynonymous DNMs were enriched in genes associated with cardiac and seizure disorders relative to controls (odds ratio...

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Share to Arrhythmias, Cardiac
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34930847
DOI: 10.1073/pnas.2115140118
PMCID: PMC8719874

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