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

Leaky RyR2 channels unleash a brainstem spreading depolarization mechanism of sudden cardiac death.

Proceedings of the National Academy of Sciences of the United States of America - 16 Aug 2016

Aiba Isamu, Wehrens Xander H T, Noebels Jeffrey L

Abstract excerpt

Cardiorespiratory failure is the most common cause of sudden unexplained death in epilepsy (SUDEP). Genetic autopsies have detected "leaky" gain-of-function mutations in the ryanodine receptor-2 (RyR2) gene in both SUDEP and sudden cardiac death cases linked to catecholaminergic polymorphic ventricular tachycardia that feature lethal cardiac arrhythmias without structural abnormality. Here we find that a human...

Read the complete abstract on PubMed

Topics

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

Share to Brain Stem
Share to Calcium
Share to Death, Sudden, Cardiac

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroencephalography

Share to Excitatory Postsynaptic Potentials

Share to Homeostasis

Share to Ryanodine Receptor Calcium Release Channel

Share to Synaptic Transmission

Source

Open in PubMed Open full text

Identifiers

PMID: 27482086
DOI: 10.1073/pnas.1605216113
PMCID: PMC4995941

Genes

RYR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Leaky RyR2 channels unleash a brainstem spreading depolarization mechanism of sudden cardiac death.PMID 27482086Read ↗

Spreading depolarization in the brainstem mediates sudden cardiorespiratory arrest in mouse SUDEP models.Semantic proximity Read ↗

The Crucial Interplay Between the Lungs, Brain, and the Heart to Understand Epilepsy Linked SUDEP: A Literature ReviewSemantic proximity Read ↗

Arrhythmogenic mechanism of a novel ryanodine receptor mutation underlying sudden cardiac death.Semantic proximity Read ↗

The Role of Loss-of-Function KCNH2 Variants in Cardiac Arrhythmias, Seizures and the Risk of Sudden Unexpected Death in Epilepsy.Semantic proximity Read ↗

Mechanisms of sudden unexplained death in epilepsy.Semantic proximity Read ↗

A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors.Semantic proximity Read ↗

Disordered breathing in a mouse model of Dravet syndromeSemantic proximity Read ↗

Sudden unexpected death in epilepsy: ongoing challenges in finding mechanisms and prevention.Semantic proximity Read ↗

Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy.Semantic proximity Read ↗

Patient-derived cells demonstrate that mutated RyR2 calcium leak underlies autism spectrum disorder and inherited arrhythmiasSemantic proximity Read ↗

Molecular Deconstruction of the Medullary Raphe Magnus in the rat: Transcriptional Responses to Repeated SeizuresSemantic proximity Read ↗

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome.Semantic proximity Read ↗

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