Literature DB >> 26322597

Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen-Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT).

I Tully1, J Atherton2, L Hunt3, J Ingles4, C Semsarian4, J McGaughran3.   

Abstract

Entities:  

Keywords:  Andersen-Tawil Syndrome; Arrest; Arrhythmia; CPVT; KCNJ2; periodic paralysis

Mesh：

Substances：

Year:  2015        PMID： 26322597     DOI： 10.1016/j.ijcard.2015.07.069

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


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  4 in total

Review 1.  Inward rectifier potassium (Kir) channels in the retina: living our vision.

Authors:  Katie M Beverley; Bikash R Pattnaik
Journal:  Am J Physiol Cell Physiol       Date:  2022-08-01       Impact factor: 5.282

2.  Multivariate analysis of TU wave complex on electrocardiogram in Andersen-Tawil syndrome with KCNJ2 mutations.

Authors:  Hitoshi Horigome; Yasuhiro Ishikawa; Norito Kokubun; Masao Yoshinaga; Naokata Sumitomo; Lisheng Lin; Yoshiaki Kato; Yuri Tanabe-Kameda; Seiko Ohno; Masami Nagashima; Minoru Horie
Journal:  Ann Noninvasive Electrocardiol       Date:  2019-11-14       Impact factor: 1.468

3.  Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.

Authors:  Pauline Le Tanno; Mathilde Folacci; Jean Revilloud; Laurence Faivre; Gabriel Laurent; Lucile Pinson; Pascal Amedro; Gilles Millat; Alexandre Janin; Michel Vivaudou; Nathalie Roux-Buisson; Julien Fauré
Journal:  Front Genet       Date:  2021-11-25       Impact factor: 4.599

4.  Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.

Authors:  Stefanie Scheiper; Brigitte Hertel; Britt-Maria Beckmann; Stefan Kääb; Gerhard Thiel; Silke Kauferstein
Journal:  BMC Med Genet       Date:  2017-10-10       Impact factor: 2.103
  4 in total

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