Results 61 to 70 of about 851 (125)

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  

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

General anesthesia using propofol infusion for implantation of an implantable cardioverter defibrillator in a pediatric patient with Andersen-Tawil syndrome: a case report. [PDF]

J Dent Anesth Pain Med, 2023
Park S, Heo W, Shin SW, Kim HJ, Yoo YM, Kim HY.   +5 more
europepmc   +1 more source

Kir2.1 dysfunction at the sarcolemma and the sarcoplasmic reticulum causes arrhythmias in a mouse model of Andersen-Tawil syndrome type 1. [PDF]

Nat Cardiovasc Res, 2022
Macías Á, González-Guerra A, Moreno-Manuel AI, Cruz FM, Gutiérrez LK, García-Quintáns N, Roche-Molina M, Bermúdez-Jiménez F, Andrés V, Vera-Pedrosa ML, Martínez-Carrascoso I, Bernal JA, Jalife J.   +12 more
europepmc   +1 more source

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

Mitochondrial DNA polymorphisms in Andersen–Tawil syndrome

Kardiologia Polska, 2020
Armando, Totomoch-Serra, Cesar A, Brito-Carreón, Maria, de L Muñoz, David, Cervantes-Barragan, Manlio F, Márquez   +4 more
openaire   +3 more sources

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

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  

Andersen-Tawil syndrome - a case report [PDF]

Neurologia Dziecięca, 2018
Katarzyna Wójcik-Borowska, Magdalena Chrościńska-Krawczyk, Ewa Zienkiewicz, Magdalena Małka, Maria Klatka   +4 more
openaire   +3 more sources

024 Andersen-Tawil syndrome: multi-system deep phenotyping of a large UK cohort

BMJ Neurology Open, 2021
Michael G Hanna, Vinojini Vivekanandam, Emma Matthews   +2 more
doaj   +1 more source