Zobrazeno 1 - 10
of 616
pro vyhledávání: '"andersen tawil syndrome"'
Clinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome
Autor:
Jiaxuan Wang, Qianqian Qu, Xianzhao Zheng, Xiaoli Ma, Wenhao Cui, Zheng Lv, Cong Hu, Shiyao Li, Jiongbo Zhao, Haidong Lv
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
PurposeTo explore the clinical, muscle pathological, and pathogenic gene mutation characteristics of Andersen-Tawil Syndrome (ATS) and enhance the understanding of ATS among clinical practitioners.MethodsRetrospective analysis of clinical data and mu
Externí odkaz:
https://doaj.org/article/f59b5cafd35d476797c09df3e8fe5066
Autor:
Peipei Chen, Junyu Long, Tianrui Hua, Zhifa Zheng, Ying Xiao, Lianfeng Chen, Kang Yu, Wei Wu, Shuyang Zhang
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-21 (2024)
Abstract Objective Long QT syndrome type 7 (Andersen–Tawil syndrome, ATS), which is caused by KCNJ2 gene mutation, often leads to ventricular arrhythmia, periodic paralysis and skeletal malformations. The development, differentiation and electrophy
Externí odkaz:
https://doaj.org/article/ed48b40959dc4f98a6b107543862d660
Autor:
Maria Elena Onore, Esther Picillo, Paola D’Ambrosio, Salvatore Morra, Vincenzo Nigro, Luisa Politano
Publikováno v:
Biomolecules, Vol 14, Iss 4, p 507 (2024)
Andersen–Tawil syndrome (ATS) is a multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, prolonged QT interval, and facial dysmorphisms occurring in the first/second decade of life. High phenotypic variability and
Externí odkaz:
https://doaj.org/article/4fac10127a764752a311d7b1ad0baf95
Akademický článek
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Akademický článek
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Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Andersen-Tawil syndrome (ATS) is a rare periodic paralysis caused by the KCNJ2 gene mutation. Here, we report on an ATS patient misdiagnosed with myodystrophy. A 66-year-old man presented with a 60-year history of episodic weakness in the proximal mu
Externí odkaz:
https://doaj.org/article/aed347f006384dcd8b8f91deb0e3e975
Publikováno v:
Case Reports in Neurology, Vol 13, Iss 2, Pp 515-520 (2021)
We present a case report of a 13-year-old girl with Andersen-Tawil Syndrome (ATS), a rare genetic disorder which is characterized by dysmorphic features, ventricular arrhythmias, and frequent episodes of muscle paralysis that interfere with daily act
Externí odkaz:
https://doaj.org/article/37ad0c783dce46838aa14c4a8dd529a2
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
It is arduous to determine clinical solutions for Andersen-Tawil syndrome (ATS) in patients intolerant of β-blocker. Here, we present the case of a 7-year-old boy with periodic paralysis and dysmorphic features who experienced syncope four times dur
Externí odkaz:
https://doaj.org/article/bfa6c3ac8dbd4ec683e85077047a96ae
Publikováno v:
Journal of Education, Health and Sport, Vol 11, Iss 4, Pp 45-50 (2021)
The first case of a patient with periodic paralysis of muscles accompanied by ventricular arrhythmias was described in 1963 by Klein and colleagues[1]. In 1971, the team led by E.D. Andersen published a paper on the familial coexistence of neurologic
Externí odkaz:
https://doaj.org/article/2cce553c5788413bbf4c2b982b5c4bf8
Publikováno v:
Indian Pacing and Electrophysiology Journal, Vol 20, Iss 5, Pp 199-202 (2020)
Bidirectional ventricular tachycardia is a rare form of tachycardia. We hereby report a case of bidirectional ventricular tachycardia in an 8-year-old boy wherein careful clinical exami-nation led to the diagnosis of Andersen Tawil syndrome. The case
Externí odkaz:
https://doaj.org/article/ddbb588b06d94b05b82a6f8305c3ce73