Molecular autopsy identifies the Na V 1.5 p.Leu96Pro variant causing sodium current loss-of-function in unexplained sudden cardiac death.

Forensic Sci Int GenetJul 21, 2026 (epub)
Case ReportCardiologyMedical Genetics

Albert Rigat Pujolas, Rebecca Martínez-Moreno, David Carreras et al.

✦ AI-curated · Sources linked

Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Molecular autopsy can identify candidate variants in unexplained sudden cardiac death (SUD), but functional evidence is often required to support pathogenic interpretation and family risk assessment. Here, we investigated the functional consequences of the SCN5A c.287 T > C (Na V 1.5_p.Leu96Pro) variant, identified in a 29-year-old man who died of SUD.

Source

PubMed · PMID 42492110

Published in Forensic Sci Int Genet. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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