Results 101 to 110 of about 20,847 (184)

Phenotypic Variability of Andersen–Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene—A New Family Case Report

Biomolecules
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.
Maria Elena Onore, Esther Picillo, Paola D’Ambrosio, Salvatore Morra, Vincenzo Nigro, Luisa Politano   +5 more
doaj   +1 more source

Clinodactyly and syndactyly – diagnostic clues for Andersen-Tawil syndrome

Arquivos de Neuro-Psiquiatria, 2014
Carlos Andrade, Joana Meireles, Miguel Leão, Fernando Silveira   +3 more
doaj   +1 more source

Atomic-level investigation of KCNJ2 mutations associated with ventricular arrhythmic syndrome phenotypes

Scientific Reports
KCNJ2 encodes the inward rectifying potassium channel (Kir2.1) that underlies I K1 which maintains the cardiac resting membrane potential and regulates excitability.
Saba Munawar, Corey L. Anderson, Louise Reilly, Ryan Woltz, Yusra Sajid Kiani, Nipavan Chiamvimonvat, Lee L. Eckhardt   +6 more
doaj   +1 more source

Andersen Syndrome [PDF]

, 2020
openaire   +1 more source

Paroxysmal limb weakness for ten years

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
DOI: 10.3969/j.issn.1672-6731.2017.07 ...
Meng-yu ZHANG, Yan XU, Jian-zhong SHEN, Yin-chang YANG, Bin PENG, Li-ying CUI   +5 more
doaj  

Rare Presentation of Wide QRS Tachycardia in a Patient in Their 40s

Annals of Noninvasive Electrocardiology
This article describes the case of a 40‐year‐old individual who presented with fulminant myocarditis. Initial ECG displayed sinus tachycardia with a heart rate of 117 bpm, QS complexes in leads V1–V3, ST‐segment depression in leads II, III, aVF, V5–V6 ...
Jing‐Xiu Li, Jing Wang, Xue‐Qi Li, Min Gao   +3 more
doaj   +1 more source

Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies

The Application of Clinical Genetics, 2013
Pi-Yin Hsiao,1 Hui-Chun Tien,2 Chu-Pin Lo,2 Jyh-Ming Jimmy Juang,3 Yi-Hsin Wang,2 Ruey J Sung41Institute of Life Sciences, National Central University, Taoyuan, Taiwan; 2Department of Financial and Computational Mathematics, Providence University ...
Hsiao PY, Tien HC, Lo CP, Juang JM, Wang YH, Sung RJ   +5 more
doaj  

Transcriptome and open chromatin analysis reveals the process of myocardial cell development and key pathogenic target proteins in Long QT syndrome type 7

Journal of Translational Medicine
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.
Peipei Chen, Junyu Long, Tianrui Hua, Zhifa Zheng, Ying Xiao, Lianfeng Chen, Kang Yu, Wei Wu, Shuyang Zhang   +8 more
doaj   +1 more source

Recurrent syncope in the Andersen Tawil syndrome – Cardiac or neurological?

Indian Pacing and Electrophysiology Journal, 2015
Michael David Fryer, Gerald Kaye, Susan Tomlinson   +2 more
doaj   +1 more source

Andersen-Tawil syndrome with sex-specific phenotype: usefulness of the long exercise test

Neurología (English Edition), 2020
S. Parra, D. Leal, R. Vilar, M. Mateo, J. Melero   +4 more
doaj   +1 more source