Results 11 to 20 of about 798 (112)

Andersen-Tawil syndrome with high-burden ventricular arrhythmias: a case report [PDF]

BMC Cardiovascular Disorders
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant genetic disorder. Its main clinical manifestations include severe ventricular arrhythmias (VA), periodic paralysis, and facial and skeletal dysplasia. Due to the lack of awareness of this disease,
Ruiting Feng, Jia Gao, Yuli Guo, Zengfu Zhang, Xiaohong Fu, Rui Wang, Min Guo   +6 more
doaj   +2 more sources

Delayed diagnosed atypical case of Andersen-Tawil syndrome [PDF]

Neurology International, 2019
Andersen-Tawil syndrome (ATS) is characterized by a triad of periodic paralysis, cardiac arrhythmias and distinctive dysmorphic features. Due to its rarity and high degree of clinical and phenotypic variability, a diagnosis of ATS can be very perplexing ...
Ahmet Z. Burakgazi
doaj   +2 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

Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes [PDF]

Biochemistry and Biophysics Reports, 2017
Andersen-Tawil syndrome (ATS) is a rare inherited channelopathy. The cardiac phenotype in ATS is typified by a prominent U wave and ventricular arrhythmia. An effective treatment for this disease remains to be established.
Yusuke Kuroda, Shinsuke Yuasa, Yasuhide Watanabe, Shogo Ito, Toru Egashira, Tomohisa Seki, Tetsuhisa Hattori, Seiko Ohno, Masaki Kodaira, Tomoyuki Suzuki, Hisayuki Hashimoto, Shinichiro Okata, Atsushi Tanaka, Yoshiyasu Aizawa, Mitsushige Murata, Takeshi Aiba, Naomasa Makita, Tetsushi Furukawa, Wataru Shimizu, Itsuo Kodama, Satoshi Ogawa, Norito Kokubun, Hitoshi Horigome, Minoru Horie, Kaichiro Kamiya, Keiichi Fukuda   +25 more
doaj   +2 more sources

Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience [PDF]

International Journal of Pediatrics & Adolescent Medicine, 2019
Andersen-Tawil syndrome (ATS) is a rare genetic disorder characterized by periodic paralysis, ventricular arrhythmia, and dysmorphic features. However, the classical features are not always seen in the syndrome; therefore, the diagnosis can be ...
Norah A. Alrashed, Waleed M. Al-Manea, Sahar A. Tulbah, Zuhair N. Al-Hassnan   +3 more
doaj   +2 more sources