{"title":"Perioperative Management and Considerations for Patients With Voltage-Gated Sodium Channel Mutations: A Pediatric Case Report.","authors":"John F Fahy, Eric W Emerling, Lynne M Sterni","doi":"10.1213/XAA.0000000000001637","DOIUrl":null,"url":null,"abstract":"<p><p>A 13-year-old girl with a voltage-gated sodium channel mutation (SCN8A)-associated intractable epilepsy presented for bilateral mastectomy for painful juvenile fibroadenomatosis. Sodium channel mutations are more frequently diagnosed with continued advances in genetic testing. Understanding the effects of sodium channel mutations is important to provide safe anesthetic care to these patients. In this article, we discuss what is known regarding the physiology of SCN8A channels and the anesthetic considerations when caring for patients with an SCN8A mutation.</p>","PeriodicalId":7307,"journal":{"name":"A&A Practice","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"A&A Practice","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1213/XAA.0000000000001637","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
A 13-year-old girl with a voltage-gated sodium channel mutation (SCN8A)-associated intractable epilepsy presented for bilateral mastectomy for painful juvenile fibroadenomatosis. Sodium channel mutations are more frequently diagnosed with continued advances in genetic testing. Understanding the effects of sodium channel mutations is important to provide safe anesthetic care to these patients. In this article, we discuss what is known regarding the physiology of SCN8A channels and the anesthetic considerations when caring for patients with an SCN8A mutation.
期刊介绍:
A & A Case Reports, our new online journal publishing Case Reports, related Editorial Commentary, and Correspondence. Anesthesia & Analgesia 1 and Anesthesiology 2 recently announced that they were suspending publication of Case Reports. One reason is that Case Reports typically reduce the Impact Factor of a journal because they are rarely cited. Regardless of the merits of Impact Factor as a metric of journal worth, journals and their editors necessarily consider Impact Factor in strategic planning. At the same time, Case Reports are appreciated by readers for describing “real life” management of difficult or unusual cases not often encountered by practitioners. In a recent issue of Anesthesia & Analgesia, Steven Shafer1 identified many Case Reports whose publication launched productive careers dedicated to solving the puzzle posed by an unusual observation in a single patient.