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

Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants.

Brain & development - 1 Feb 2020

Hata Yukiko, Oku Yuko, Taneichi Hiromichi, Tanaka Tomomi, Igarashi Noboru, Niida Yo, Nishida Naoki

Abstract excerpt

AIM: Dravet syndrome (DS) is characterized by high epilepsy-related premature mortality with a markedly young age at death, however, autopsy report of sudden unexpected death with DS has been fewer than expected. METHODS: We report two autopsy cases with sudden unexpected death from DS. Case 1 was a 13-year-old male who drowned in a bathtub, and Case 2 was a 3-year-old female who died while sleeping. In Case 1,...

Read the complete abstract on PubMed

Topics

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

Share to Autopsy
Share to Child, Preschool
Share to Death, Sudden

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsies, Myoclonic

Share to Epilepsy

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to NAV1.1 Voltage-Gated Sodium Channel

Source

Identifiers

PMID: 31677916
DOI: 10.1016/j.braindev.2019.10.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants.PMID 31677916Read ↗

Mortality in Dravet syndrome.Semantic 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 ↗

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 ↗

Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A.Semantic proximity Read ↗

Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People.Semantic proximity Read ↗

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention.Semantic proximity Read ↗

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

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

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

Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers.Semantic proximity Read ↗

Sudden Unexpected Death after a mild trauma: The complex forensic interpretation of cardiac and genetic findings.Semantic proximity Read ↗

Epilepsy-related sudden unexpected death: targeted molecular analysis of inherited heart disease genes using next-generation DNA sequencing.Semantic proximity Read ↗

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