SODIUM CHANNELOPATHIES: A REVIEW

Autor: M. Usha Rani, Mudduluru Revathi, Sai Shanmukh Vemparala
Rok vydání: 2023
Předmět:
Zdroj: GLOBAL JOURNAL FOR RESEARCH ANALYSIS. :126-130
Popis: Introduction: Sodium channelopathies are a group of genetic disorders characterized by abnormalities in sodium channels that can cause a wide range of cardiac and neurological symptoms. These disorders can be inherited in an autosomal dominant pattern and can be caused by mutations in various genes, including SCN5A, SCN1B, and SCN2B. A comprehensive literature search was conducted using PubMed, MEDLINE, and Google Methodology: Scholar to identify relevant articles published from March 2005 to November 2021. The following keywords were used: "sodium channelopathies", "sodium channels", "sodium channelopathy genetics", "sodium channelopathies-pathophysiology", "sodium channelopathies- their clinical presentations and management". Only articles written in English and reporting on human studies were included. The clinical presentation of these disorders can vary widely, Clinical features and management: ranging from asymptomatic to sudden cardiac death, and can be inuenced by factors such as age, gender, and comorbidities. Genetic testing can aid in the diagnosis and management of these disorders, and there are several treatment options available, including medications, implantable cardioverter-debrillators, and lifestyle modications. Conclusion: While signicant progress has been made in our understanding of sodium channelopathies in recent years, there is still much to learn about these complex disorders. Further research is needed to fully elucidate the underlying mechanisms of these disorders, identify novel therapeutic targets, and improve clinical outcomes for affected individuals. Nonetheless, the knowledge gained so far has provided valuable insights into the pathogenesis and management of these disorders, and has the potential to greatly improve the lives of those affected by sodium channelopathies.
Databáze: OpenAIRE