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Worldwide Sodium Channel Conference, January 31st-February 2nd, 2024, Grindelwald, Switzerland.
Bioelectricity
December 2024
York Biomedical Research Institute, Department of Biology, University of York, Heslington, UK.
The following is a brief report of the inaugural Worldwide Sodium Channels Conference, held in Grindelwald, Switzerland, in January 2024. This excellent in-person conference followed the highly successful online Worldwide Sodium Channel Seminars series which started following the COVID-19 pandemic, in 2021. We present here our highlights of the 45 presentations delivered over the two-and-a-half-day conference, focusing on key outputs from each of the eight sessions.
View Article and Find Full Text PDFSevere Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of and Variants: A Case Report.
Neurol Genet
February 2025
Department of Neurology and.
Objectives: To report a case of adult-onset non-dystrophic myotonia complicated by recurrent episodes of laryngospasm.
Methods: The patient is a 35-year-old man who was admitted to our hospital for recurrent episodes of apnea requiring endotracheal intubation with mechanical ventilation. He underwent extensive evaluation, including EMG, laryngoscopy, muscle biopsy, and genetic testing, which revealed a diagnosis of non-dystrophic myotonia.
Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics.
Biomolecules
November 2024
Cardiogenetic Center, Rare Diseases and Medical Genetics Units, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Inherited cardiac channelopathies are major causes of sudden cardiac death (SCD) in young people. Genetic testing is focused on the identification of single-nucleotide variants (SNVs) by Next-Generation Sequencing (NGS). However, genetically elusive cases can carry copy number variants (CNVs), which need specific detection tools.
View Article and Find Full Text PDFDrug-Induced Type 1 Brugada Pattern: A Case Report.
Cureus
November 2024
Internal Medicine, University Hospitals Sussex NHS Foundation Trust, St Richard's Hospital, Chichester, GBR.
Article Synopsis
- Brugada syndrome is a genetic heart disorder characterized by abnormal heart rhythms, leading to fainting and potential sudden death, even in otherwise healthy individuals.
- A 33-year-old man was diagnosed with drug-induced type 1 Brugada pattern after experiencing syncopal episodes that mimicked seizures, with no history of heart issues or epilepsy.
- The antidepressant dosulepin was identified as the likely trigger for the condition, and a psychiatry consult was recommended to evaluate medication alternatives.
Small fiber neuropathy.
Int Rev Neurobiol
November 2024
Department of Neurology, Mental Health and Neuroscience Research Institute, Maastricht University Medical Center+, Maastricht, Netherlands.
Small fiber neuropathy (SFN) is a condition involving the small nerve fibers of the peripheral nervous system, specifically the thinly myelinated Aδ and unmyelinated C fibers. It is an increasingly acknowledged condition within the spectrum of neuropathic pain disorders, leading to a rise in diagnosed patients. SFN is characterized by neuropathic pain, that is often described as burning, and typically presents in the hands and feet ascending proximally.
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