安德森-塔维尔综合征

Q2 Medicine

Handbook of clinical neurology Pub Date : 2024-01-01 DOI:10.1016/B978-0-323-90820-7.00001-X

Jill A Goslinga, Louis J PtáČek, Rabi Tawil, Alexander Fay

{"title":"安德森-塔维尔综合征","authors":"Jill A Goslinga, Louis J PtáČek, Rabi Tawil, Alexander Fay","doi":"10.1016/B978-0-323-90820-7.00001-X","DOIUrl":null,"url":null,"abstract":"Andersen-Tawil syndrome (ATS) is one of the periodic paralyses, a set of skeletal muscle disorders that cause transient weakness of the arms and legs lasting minutes to many hours. Distinguishing features of ATS include facial and limb dysmorphisms, cardiac arrhythmia, difficulties with executive function, and association with dominant mutations in the potassium channel, KCNJ2. In this review, we discuss the key features of ATS, diagnostic testing, pathophysiology and treatment of ATS, and compare them with other periodic paralyses.","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"203 ","pages":"59-67"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Andersen-Tawil syndrome.\",\"authors\":\"Jill A Goslinga, Louis J PtáČek, Rabi Tawil, Alexander Fay\",\"doi\":\"10.1016/B978-0-323-90820-7.00001-X\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Andersen-Tawil syndrome (ATS) is one of the periodic paralyses, a set of skeletal muscle disorders that cause transient weakness of the arms and legs lasting minutes to many hours. Distinguishing features of ATS include facial and limb dysmorphisms, cardiac arrhythmia, difficulties with executive function, and association with dominant mutations in the potassium channel, KCNJ2. In this review, we discuss the key features of ATS, diagnostic testing, pathophysiology and treatment of ATS, and compare them with other periodic paralyses.\",\"PeriodicalId\":12907,\"journal\":{\"name\":\"Handbook of clinical neurology\",\"volume\":\"203 \",\"pages\":\"59-67\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Handbook of clinical neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1016/B978-0-323-90820-7.00001-X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Handbook of clinical neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/B978-0-323-90820-7.00001-X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

摘要

安徒生-塔维尔综合征（ATS）是周期性瘫痪的一种，这是一组骨骼肌疾病，可导致持续数分钟至数小时的一过性手脚无力。ATS 的显著特征包括面部和肢体畸形、心律失常、执行功能困难以及与钾通道 KCNJ2 的显性突变有关。在本综述中，我们将讨论 ATS 的主要特征、诊断测试、病理生理学和治疗，并将其与其他周期性瘫痪进行比较。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Andersen-Tawil syndrome.

Andersen-Tawil syndrome (ATS) is one of the periodic paralyses, a set of skeletal muscle disorders that cause transient weakness of the arms and legs lasting minutes to many hours. Distinguishing features of ATS include facial and limb dysmorphisms, cardiac arrhythmia, difficulties with executive function, and association with dominant mutations in the potassium channel, KCNJ2. In this review, we discuss the key features of ATS, diagnostic testing, pathophysiology and treatment of ATS, and compare them with other periodic paralyses.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Handbook of clinical neurology Medicine-Neurology (clinical)

CiteScore

4.10

自引率

0.00%

发文量

302

期刊介绍： The Handbook of Clinical Neurology (HCN) was originally conceived and edited by Pierre Vinken and George Bruyn as a prestigious, multivolume reference work that would cover all the disorders encountered by clinicians and researchers engaged in neurology and allied fields. The first series of the Handbook (Volumes 1-44) was published between 1968 and 1982 and was followed by a second series (Volumes 45-78), guided by the same editors, which concluded in 2002. By that time, the Handbook had come to represent one of the largest scientific works ever published. In 2002, Professors Michael J. Aminoff, François Boller, and Dick F. Swaab took on the responsibility of supervising the third (current) series, the first volumes of which published in 2003. They have designed this series to encompass both clinical neurology and also the basic and clinical neurosciences that are its underpinning. Given the enormity and complexity of the accumulating literature, it is almost impossible to keep abreast of developments in the field, thus providing the raison d''être for the series. The series will thus appeal to clinicians and investigators alike, providing to each an added dimension. Now, more than 140 volumes after it began, the Handbook of Clinical Neurology series has an unparalleled reputation for providing the latest information on fundamental research on the operation of the nervous system in health and disease, comprehensive clinical information on neurological and related disorders, and up-to-date treatment protocols.