The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.

Heat stroke and the liver: mechanisms of injury and therapeutic strategies.

When Parkinson's disease encounters high fever: two case reports and literature review.

Heat stroke associated with novel leukaemia inhibitory factor receptor gene variant in a Chinese infant.

A Diagnostic Dilemma-Severe Hyperthermia and Rigidity in a Young Man with Polysubstance Use: A Case Report.

Efficacy of emapalumab in treating 3 pediatric patients with epstein-barr virus-associated hemophagocytic lymphohistiocytosis complicated by multiple organ dysfunction.

Desflurane Safety Revisited: A Pharmacovigilance Study Detecting Potential Safety Signals from FAERS Data.

Reverse Shapiro Syndrome Presenting as Fever of Unknown Origin: A Case Report and Review of the Literature.

Neuroleptic Malignant Syndrome in an Institutionalized Geriatric Patient Following Antipsychotic Switch to Quetiapine: A Fatal Outcome.

Novel heterozygous mutation in MYH3 causes contractures, pterygia, and spondylocarpostarsal fusion syndrome 1: A case report.

Serotonin Syndrome Without Overdose: Polypharmacy-Induced Toxicity in a Medically Stable Young Adult.

Development of a preclinical testing platform for clinically relevant therapy for Dravet syndrome.

Sudden Death Due To Excited Delirium Syndrome: From Pathophysiology To Postmortem Assessment: Case Reports.

Diagnostic Value of Botryoid Nuclei as a Biomarker of Severe Hyperthermia and Systemic Inflammation in Heatstroke and Neuroleptic Malignant Syndrome: A Challenge of Climate Change.

The evolving genetic landscape of neuromuscular fetal akinesias.

Single-cell sequencing reveals the same heterogeneity of neutrophils in heatstroke-induced lung and liver injury.

The Incidence of Volatile Anesthesia Porcine Stress Syndrome in Pigs (Sus scrofa domesticus) Gives Implications for Physiology during Anesthesia.

Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report.

Intermittent Sinus Pause/Asystole in the Setting of Anticholinergic Overdose.

Tranexamic Acid Neurotoxicity After Nebulization and BAL.

Bruck syndrome in pregnancy.

Serotonin Syndrome Induced by Fentanyl Alone in an Adult Patient After Cardiac Surgery: A Case Report.

Concomitant Administration of Ozanimod and Serotonergic Antidepressants in Patients With Ulcerative Colitis or Relapsing Multiple Sclerosis.

Turn Up the Heat: A Case Report of Malignant Hyperthermia During Ambulatory Surgery.

Multiple Pterygium Syndrome (Escobar Syndrome): A Rare Form of Prenatal Myasthenia Presenting With Arthrogryposis Multiplex Congenita.

Heatstroke Comorbid with SARS-CoV-2 Infection: A Case Report and Literature Review.

Physiological role for S-nitrosylation of RyR1 in skeletal muscle function and development.

Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.

When a Critically Ill Child is Oceans Away From a PICU: A Military Pediatric CCAT Mission.

Microwave ablation for recurrent primary hyperparathyroidism in four patients with multiple endocrine neoplasia type 1: a case series report.

A 4-Year-Old Boy with an Accidentally Detected Mutation in the RET Proto-Oncogene and Mutation in the Gene Encoding the Ryanodine Receptor1 (RyR1)-Case Report.

Concurrent administration of serotonergic antidepressants and ozanimod in participants with relapsing multiple sclerosis from the open-label extension DAYBREAK trial.

Serotonergic Medication Error: A Case Report of Serotonin Syndrome.

Nursing care of patients with relapsed and refractory multiple myeloma treated with B-cell mature antigen-targeted universal chimeric antigen receptor T cells.

Management of a trauma patient with alcohol withdrawal who developed neuroleptic malignant syndrome in Korea: a case report.

A case report of liver abscesses caused by Fusobacterium necrophorum in immunocompetent patient and review of the literature.

Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome - A case series from the West Midlands, UK.

[Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene].

Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myasthenia.

Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.

Salmonella Enteritidis Fatal Septicemia with Meningoencephalitis in a Tiger (Panthera tigris) Cub.

High risk and low prevalence diseases: Serotonin syndrome.

A case report and literature review: diagnosis and treatment of human immunodeficiency virus coinfected with visceral leishmania by metagenomic next-generation sequencing in China.

Life-span characterization of epilepsy and comorbidities in Dravet syndrome mice carrying a targeted deletion of exon 1 of the Scn1a gene.

Heat stroke in dogs: Literature review.

Hyperthermia and Serotonin: The Quest for a "Better Cyproheptadine".

Postoperative hyperthermia-induced multiple organ failure in a child with Down syndrome: a case report.

Neuroleptic malignant-like syndrome associated multiple system atrophy: report on three cases.

Thermal dysregulation in patients with multiple sclerosis during SARS-CoV-2 infection. The potential therapeutic role of exercise.

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

The endocannabinoid system impacts seizures in a mouse model of Dravet syndrome.

Escitalopram, bupropion, lurasidone, lamotrigine and possible vortioxetine overdose presented with serotonin syndrome and diffuse encephalopathy: A case report.

Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome.

Case report: Spinal anesthesia for cesarean section in a parturient with Potocki-Lupski syndrome.

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.

Successful Treatment of Severe Gamma-Hydroxybutyric Acid Withdrawal Syndrome With Dantrolene.

Cardiac anomalies associated with Escobar syndrome: A case report and a review of the literature.

Cannabigerolic acid, a major biosynthetic precursor molecule in cannabis, exhibits divergent effects on seizures in mouse models of epilepsy.

Drugs of Abuse: Sympathomimetics.

Dantrolene repurposed to treat sepsis or septic shock and COVID-19 patients.

A systematic review of stereotactic radiofrequency ablation for hypothalamic hamartomas.

Thyroid storm in a dog secondary to thyroid carcinoma.

A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.

The Role of α-Synuclein in Methamphetamine-Induced Neurotoxicity.

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.

Could dantrolene be explored as a repurposed drug to treat COVID-19 patients by restoring intracellular calcium homeostasis?

Transdermal opioid patch in treatment of paroxysmal autonomic instability with dystonia with multiple cerebral insults: A case report.

Anesthesia for Stüve-Wiedemann syndrome: a rare adult patient case report.

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Spinal anesthesia in a patient with Schwartz-Jampel syndrome.

Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example.

Underlying Serotonin Syndrome, Masked by Community-Acquired Pneumonia and Myocardial Ischemia.

[General anesthesia for Crisponi syndrome: case report].

Focal and generalized seizure activity after local hippocampal or cortical ablation of NaV 1.1 channels in mice.

A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.

Anesthesia Challenges in the Management of Freeman-Sheldon Syndrome: Report of Two Cases and Literature Review.

Infusion of chimeric antigen receptor T cells against dual targets of CD19 and B-cell maturation antigen for the treatment of refractory multiple myeloma.

Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.

Complications encountered in the treatment of primary and secondary hyperparathyroidism with microwave ablation - a retrospective study.

Admission Body Temperature in Critically Ill Patients as an Independent Risk Predictor for Overall Outcome.

[Research progress in the heatstroke-induced myocardial injury].

Phenobarbital-induced anticonvulsant hypersensitivity syndrome in a cat.

Citalopram overdose and severe serotonin syndrome in an intermediate metabolizing patient.

Lethal multiple pterygium syndrome.

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

C57BL/6J and C57BL/6N substrains differentially influence phenotype severity in the Scn1a +/- mouse model of Dravet syndrome.

Multiple Small Bowel Perforations Secondary to Tumor Lysis-a Complication of Pseudomyxoma Peritonei in a Patient Undergoing Intraperitoneal Chemotherapy.

Liver Transplantation for Fulminant Hepatic Failure Due to Heat Stroke: A Case Report.

Escobar Syndrome-An Multidisciplinary Approach for an Excellent Outcome With 3 Years of Follow-Up.

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

Bladder wall and surrounding tissue necrosis following bilateral superselective embolization of internal iliac artery branches due to uncontrollable haematuria related to bladder tumor: case report.

Local hyperthermia cleared multifarious viral warts in a patient with Cushing's syndrome.

Growth-Friendly Spine Surgery in Escobar Syndrome.

Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family.

Thermoregulation in epilepsy.

Consideration of Occult Infection and Sepsis Mimics in the Sick Patient Without an Apparent Infectious Source.

Oskar Kobyliński (1856-1926) and the first description of Noonan syndrome in the medical literature.

Multiple, Independent T Cell Lymphomas Arising in an Experimentally FIV-Infected Cat during the Terminal Stage of Infection.

Non-pharmacological interventions for treating chronic prostatitis/chronic pelvic pain syndrome.

Rhabdomyolysis in Stuve-Wiedemann syndrome.

A successful anesthetic approach in a patient with Schwartz-Jampel syndrome.

Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome.

The synthetic neuroactive steroid SGE-516 reduces seizure burden and improves survival in a Dravet syndrome mouse model.

Retrospective evaluation of 155 adult equids and 21 foals with tetanus in Western, Northern, and Central Europe (2000-2014). Part 1: Description of history and clinical evolution.

Hypothermia due to Antipsychotic Medication: A Systematic Review.

Comparative Assessment of the Heart's Functioning by Using the Akabane Test and Classical Methods of Instrumental Examination.

Anaesthetic management of a patient with multiple pterygium syndrome for elective caesarean section.

Serum histones as biomarkers of the severity of heatstroke in dogs.

Risk factors for development of postoperative cerebellar mutism syndrome in children after medulloblastoma surgery.

[Mutation analysis for a Chinese family affected with Escobar syndrome by whole exome sequencing].

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.

[Surgical management of spinal deformity in a patient with Escobar syndrome: review of the literature].

Anesthetic Outcomes of Children With Arthrogryposis Syndromes: No Evidence of Hyperthermia.

Pharmacology and Toxicology of N-Benzylphenethylamine ("NBOMe") Hallucinogens.

Continuous fetal head flexion as a marker for prenatal diagnosis of lethal multiple pterygium syndrome: a case report.

Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features: A Case Report.

Escobar (multiple pterygium) syndrome: Multidisciplinary approach to a very rare syndrome.

Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.

Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Potential Mimic of Neuroleptic Malignant Syndrome.

Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman-Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction.

Challenges in a large mixed drug overdose patient.

β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function.

Treatment of Dravet Syndrome.

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

Perioperative Diagnosis and Treatment of Serotonin Syndrome Following Administration of Methylene Blue.

A Case of Freeman-Sheldon Syndrome: Anesthetic Challenges.

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.

Cardiorespiratory control and cytokine profile in response to heat stress, hypoxia, and lipopolysaccharide (LPS) exposure during early neonatal period.

[Fatal hyperpyrexia in an adolescent patient with severe burns after a traffic accident].

A case of malignant hyperthermia that was difficult to be differentiated from oral antipsychotic polypharmacy-associated neuroleptic malignant syndrome.

Bilateral congenital lumbar hernias in a patient with central core disease--A case report.

Sudden Cardiac Death and Post Cardiac Arrest Syndrome. An Overview.

Methamphetamine oxidative stress, neurotoxicity, and functional deficits are modulated by nuclear factor-E2-related factor 2.

Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years.

Stüve-Wiedemann syndrome in a neonate.

Animal models for mesiotemporal lobe epilepsy: The end of a misunderstanding?