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

RYR1-related malignant hyperthermia with marked cerebellar involvement - a paradigm of heat-induced CNS injury?

Neuromuscular disorders : NMD - 1 Feb 2015

Forrest Katharine M L, Foulds Nicola, Millar John S, Sutherland Paul D, Pappachan V John, Holden Samantha, Mein Rachael, Hopkins Philip M, Jungbluth Heinz

Abstract excerpt

Heat-induced CNS injury has been recognized for more than 50 years but the biological basis for the marked selectivity of CNS damage is currently uncertain. We present clinical, imaging, autopsy and genetic findings of a 14-year-old male who developed fatal cerebellar swelling in the course of a malignant hyperthermia (MH) episode caused by triggering anaesthetics. Unaccustomed intense exercise in the days prior...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Cerebellum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to RYR1 gene

Share to Magnetic Resonance Imaging

Share to Mutation

Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 25466363
DOI: 10.1016/j.nmd.2014.10.008

Genes

RYR1

Variants

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

RYR1-related malignant hyperthermia with marked cerebellar involvement - a paradigm of heat-induced CNS injury?PMID 25466363Read ↗

Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature.Semantic proximity Read ↗

Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?Semantic proximity Read ↗

RYR1-Related Rhabdomyolysis: A Spectrum of Hypermetabolic States Due to Ryanodine Receptor Dysfunction.Semantic proximity Read ↗

Malignant Hyperthermia: A Killer If Ignored.Semantic proximity Read ↗

Malignant hyperthermia: still an issue for neuromuscular diseases?Semantic proximity Read ↗

Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.Semantic proximity Read ↗

Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.Semantic proximity Read ↗

Advances in malignant hyperthermia: novel insights into heat-induced Ca2+ release as a thermal signaling.Semantic proximity Read ↗

Considerations for diverse RYR1 variants in malignant hyperthermia susceptible patients: a report of two cases.Semantic proximity Read ↗

Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study.Semantic proximity Read ↗

Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations.Semantic proximity Read ↗

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.Semantic proximity Read ↗

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