Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.

Forensic science international. Genetics - 1 Jul 2024

Krebs-Drouot Lila, Schalk Audrey, Schaefer Elise, Keyser Christine, Gonzalez Angela, Calmels Nadège, Wardé Marie-Thérèse Abi, Oertel Laetitia, Acquaviva C Écile, Mandel Jean-Louis, Farrugia Audrey

Abstract excerpt

INTRODUCTION: Sudden Unexplained Death in Childhood (SUDC) needs to be fully assessed considering its impact on the family, parents and siblings. Inborn Errors of Metabolism (IEM) such as Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) should be taken into consideration when SUDC occurres. Our aim is to present a family with two successive SUDC and to discuss the post-mortem genetics investigations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acyl-CoA Dehydrogenase
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Death, Sudden

Share to Genetic Testing

Share to Lipid Metabolism, Inborn Errors

Share to Pedigree

Share to Recurrence

Share to Siblings

Source

Identifiers

PMID: 38518711
DOI: 10.1016/j.fsigen.2024.103028

Genes

ACADM
TECRL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.PMID 38518711Read ↗

Molecular autopsy in sudden cardiac deathSemantic proximity Read ↗

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic InvestigationSemantic proximity Read ↗

[Postmortem genetic analysis following sudden cardiac death : Background, approach, and future].Semantic proximity Read ↗

From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy.Semantic proximity Read ↗

Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained deathSemantic proximity Read ↗

Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.Semantic proximity Read ↗

Molecular autopsy in a cohort of infants died suddenly at rest.Semantic proximity Read ↗

Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular AutopsySemantic proximity Read ↗

Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis.Semantic proximity Read ↗

Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis.Semantic proximity Read ↗

Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young.Semantic proximity Read ↗

The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the youngSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.