Results 11 to 20 of about 2,073 (179)

When the U Wave Tells the Story: Andersen–Tawil Syndrome Unmasked [PDF]

Annals of Noninvasive Electrocardiology
A 26‐year‐old woman with recurrent syncope was diagnosed with Andersen‐Tawil syndrome (ATS) following abnormal electrocardiographic (ECG) findings.
Shasha Yu, Hang Lv
doaj   +3 more sources

Unlocking the Secrets of Andersen–Tawil Syndrome: The Role of Next-Generation Sequencing in a Family With Long QT Syndrome [PDF]

Cardiology Research and Practice
Background Andersen–Tawil syndrome (ATS) is a rare inheritable potassium channelopathy, accompanied by ventricular arrhythmias due to long QT intervals, muscle weakness, and dysmorphic features. Next‐generation sequencing can identify the genetic causes of the phenotype. Methods Whole‐exome sequencing (WES) was performed on a 12‐year‐old girl with long
Mansoor Namazi, Niloofar Naderi, Amir Askarinejad, Mohammad Dalili, Majid Maleki, Samira Kalayinia   +5 more
doaj   +3 more sources

Case Report of Andersen–Tawil Syndrome: Rare Presentation of a Rare Disease [PDF]

Annals of Indian Academy of Neurology
Andersen–Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life.
Himanshu Shakya, Shivangi Bhatnagar, Pratik Babel, Suman Kushwaha, Rajinder K Dhamija   +4 more
doaj   +2 more sources

Successful treatment of arrhythmia with β‐blocker and flecainide combination in pregnant patients with Andersen–Tawil syndrome: A case report and literature review [PDF]

Annals of Noninvasive Electrocardiology, 2021
Andersen–Tawil syndrome (ATS) is a rare disorder characterized by a triad of ventricular arrhythmia (VA), dysmorphic features, and periodic paralysis.
Pongprueth Rujirachun, Apichaya Junyavoraluk, Manop Pithukpakorn, Bhoom Suktitipat, Arjbordin Winijkul   +4 more
doaj   +2 more sources

Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic features [PDF]

European Journal of Case Reports in Internal Medicine
Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the KCNJ2 gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias.
Mustafa Shehzad, Dawood Shehzad, Muhammad Ahmad, Sundus Huma, Shaheer Minhas, Abdul Wassey   +5 more
doaj   +2 more sources

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients [PDF]

BMC Medical Genetics, 2017
Background Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a novel sequence variant (c.434A > 
Stefanie Scheiper, Brigitte Hertel, Britt-Maria Beckmann, Stefan Kääb, Gerhard Thiel, Silke Kauferstein   +5 more
doaj   +2 more sources

Andersen–Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1 [PDF]

Frontiers in Pharmacology, 2020
Andersen–Tawil syndrome (ATS) type-1 is associated with loss-of-function mutations in KCNJ2 gene. KCNJ2 encodes the tetrameric inward-rectifier potassium channel Kir2.1, important to the resting phase of the cardiac action potential.
Reem Handklo-Jamal, Eshcar Meisel, Eshcar Meisel, Daniel Yakubovich, Daniel Yakubovich, Leonid Vysochek, Roy Beinart, Roy Beinart, Michael Glikson, Michael Glikson, Julie R. McMullen, Nathan Dascal, Eyal Nof, Eyal Nof, Shimrit Oz, Shimrit Oz   +15 more
doaj   +2 more sources

Clinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome [PDF]

Frontiers in Neurology
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 muscle
Jiaxuan Wang, Qianqian Qu, Xianzhao Zheng, Xiaoli Ma, Wenhao Cui, Zheng Lv, Cong Hu, Shiyao Li, Jiongbo Zhao, Haidong Lv   +9 more
doaj   +2 more sources

Clinodactyly and syndactyly – diagnostic clues for Andersen-Tawil syndrome [PDF]

Arquivos de Neuro-Psiquiatria, 2014
A 38-year-old man was diagnosed, at the age of 18, with SCN4A-negative hyperkalaemic periodic paralysis. The diagnosis remained unchanged until his 8-year-old daughter suffered an exercise-induced syncope. Her EKG showed a polymorphic ventricular tachycardia.
Carlos Andrade, Joana Meireles, Miguel Leão, Fernando Silveira   +3 more
doaj   +3 more sources

Management and Treatment of Andersen-Tawil Syndrome (ATS) [PDF]

Neurotherapeutics, 2007
Andersen-Tawil syndrome (ATS) is characterized by periodic paralysis, cardiac arrhythmias, and distinct facial and skeletal features. The majority of patients with ATS (ATS1) have point mutations in the KCNJ2 gene, which encodes the inward-rectifying potassium channel known as Kir2.1.
V. Sansone, R. Tawil
openaire   +5 more sources