Results 41 to 50 of about 2,073 (179)

Child Neurology: Andersen-Tawil syndrome [PDF]

Neurology, 2020
Two images of patients in the article “Child Neurology: Andersen-Tawil syndrome” by Almuqbil and Srour,1 published online March 16, 2015, have been removed because the patients requested that their consent for publication be withdrawn. The removal of the images does not invalidate the paper because an extensive verbal description of the patients was ...
openaire   +2 more sources

Muscle channelopathies: A review

Annals of the Child Neurology Society, Volume 1, Issue 4, Page 273-288, December 2023., 2023
Abstract Background Muscle channelopathies are a rare and heterogeneous group of disorders that can be clinically challenging and functionally disabling. These disorders can present in both adult and pediatric age groups. These disorders have been known since the turn of the 20th century, with a steady evolution in terms of understanding the ...
Bridget R. McGowan, Abigail N. Schwaede, Lenika De Simone, Vamshi K. Rao   +3 more
wiley   +1 more source

Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome [PDF]

, 2011
Andersen-Tawil syndrome is characterized by periodic paralysis, ventricular ectopy and dysmorphic features. Approximately 60% of patients exhibit loss-of-function mutations in KCNJ2, which encodes the inwardly rectifying K(+) channel pore forming subunit
Cucilich, Phillip S, Marrus, Scott B, Nerbonne, Jeanne M, Wang, Wei   +3 more
core   +2 more sources

Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation

Muscle &Nerve, Volume 68, Issue 4, Page 439-450, October 2023., 2023
Abstract Introduction/Aims The periodic paralyses are muscle channelopathies: hypokalemic periodic paralysis (CACNA1S and SCN4A variants), hyperkalemic periodic paralysis (SCN4A variants), and Andersen‐Tawil syndrome (KCNJ2). Both episodic weakness and disabling fixed weakness can occur.
Vinojini Vivekanandam, Karen Suetterlin, Emma Matthews, John Thornton, Dipa Jayaseelan, Sachit Shah, Jasper M. Morrow, Tarek Yousry, Michael G. Hanna   +8 more
wiley   +1 more source

Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome:Insights from virtual human atria [PDF]

, 2017
Gain-of-function mutations in KCNJ2-encoded Kir2.1 channels underlie variant 3 (SQT3) of the short QT syndrome, which is associated with atrial fibrillation (AF).
Whittaker, Dominic G, Ni, Haibo, Harchi, Aziza El, Hancox, Jules C, Zhang, Henggui   +4 more
core   +10 more sources

Inwardly Rectifying Potassium Channel Kir2.1 and its “Kir-ious” Regulation by Protein Trafficking and Roles in Development and Disease

Frontiers in Cell and Developmental Biology, 2022
Potassium (K+) homeostasis is tightly regulated for optimal cell and organismal health. Failure to control potassium balance results in disease, including cardiac arrythmias and developmental disorders.
Natalie A. Hager, Ceara K. McAtee, Mitchell A. Lesko, Allyson F. O’Donnell   +3 more
doaj   +1 more source

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. [PDF]

, 2014
IntroductionAndersen-Tawil syndrome (ATS) is a potassium channelopathy affecting cardiac and skeletal muscle. Periodic paralysis is a presenting symptom in some patients, whereas, in others, symptomatic arrhythmias or prolongation of QT in ...
Bieganowska, Katarzyna, Bienias, Piotr, Kaminska, Anna, Kostera-Pruszczyk, Anna, Lee, Hsien-Yang, Miszczak-Knecht, Maria, Ploski, Rafal, Potulska-Chromik, Anna, Pruszczyk, Piotr, Ptáček, Louis J, Quinn, Emily, Szczałuba, Krzysztof   +11 more
core   +2 more sources

Transvenous ICD Implantation into a Coronary Sinus Branch: A Safe and Feasible Alternative to Deliver ICD after Tricuspid Valve Reconstruction

Case Reports in Cardiology, Volume 2023, Issue 1, 2023., 2023
Significant lead‐induced tricuspid regurgitation after cardiovascular implantable electronic devices is not uncommon. Absolute or relative contraindications to place the lead in the right ventricle after tricuspid valve (TV) surgery still remains a challenge.
M. Gruszczynski, A. Müller-Burri, A. Häussler, A. Breitenstein, H. Rodriguez Cetina Biefer, O. Dzemali, Marcio Barros   +6 more
wiley   +1 more source

Markedly reduced ventricular arrhythmia during the peripartum period in a pregnant woman with Andersen-Tawil syndrome

Journal of Arrhythmia, 2012
Andersen-Tawil syndrome (ATS), also known as long QT syndrome type 7, is a rare autosomal dominant disease caused by a KCNJ2 mutation. The characteristic triad of ATS is periodic paralysis, dysmorphic features, and ventricular arrhythmia.
Chizuko A. Kamiya, Wataru Shimizu, Yoshinari Kabayashi, Takekazu Miyoshi, Chinami Horiuchi, Takashi Umekawa, Kaoru Yamanaka, Reiko Neki, Shinji Katsuragi, Jun Yoshimatsu, Tomoaki Ikeda   +10 more
doaj   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources