Project description:Q373fs variant of RBM20 affects splicing of cardiac genes that are causative for sudden death Human sudden death case and animal experiment
Project description:Sudden unexplained death in childhood (SUDC) is death of a child over one year of age that is unexplained after review of clinical history, circumstances of death, and complete autopsy with ancillary testing. Multiple etiologies may cause SUDC, with parallels to sudden unexpected death in epilepsy (SUDEP) in SUDC with a history of febrile seizures, suggesting possible abnormalities in hippocampus and cortex. To identify molecular signaling pathways underlying SUDC, we performed label-free quantitative mass spectrometry on microdissected frontal cortex, hippocampal dentate gyrus (DG), and cornu ammonis (CA1-3) in SUDC (n=19) and pediatric control cases (n=19) with an explained cause of death.
