×
About 145 results

ALLMedicine™ Andersen-tawil Syndrome Center

Research & Reviews  55 results

Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular...
https://doi.org/10.1093/brain/awab445
Brain : a Journal of Neurology; Vivekanandam V, Männikkö R et. al.

Dec 18th, 2021 - Andersen Tawil Syndrome (ATS) is a neurological channelopathy caused by mutations in the KCNJ2 gene that encodes the ubiquitously expressed Kir2.1 potassium channel. The syndrome is characterised by episodic weakness, cardiac arrythmias and dysmor...

Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?
https://doi.org/10.1016/j.ejmg.2021.104382
European Journal of Medical Genetics; van der Werf-'t Lam AS, van Haeringen A et. al.

Nov 9th, 2021 - Andersen-Tawil syndrome (ATS) and Noonan syndrome (NS) are both autosomal dominantly inherited disorders that share anomalies in the same body systems, i.e. cardiovascular system, skeleton, growth, and face morphology. Here we report a patient mee...

Catheter ablation of frequent monomorphic ventricular arrhythmias in Andersen-Tawil syn...
https://doi.org/10.1007/s10840-021-01077-w 10.1172/JCI15183 10.1007/s00424-010-0820-6 10.1097/crd.0000000000000326 10.1016/j.jacc.2020.02.033 10.1016/j.hrthm.2019.03.002 10.1161/01.CIR.0000088781.99943.95 10.1161/CIRCGENETICS.111.962316 10.1253/circj.cj-12-1460 10.1093/europace/eut160 10.1016/j.acmx.2013.12.007 10.1016/j.hrcr.2015.06.011 10.1016/j.hrcr.2016.11.009 10.1016/j.jelectrocard.2021.07.004 10.2174/1573403x10666140514102528 10.1016/j.jjcc.2017.01.009 10.1111/j.1540-8159.1989.tb01905.x 10.1016/j.nurt.2007.01.005 10.1161/CIRCULATIONAHA.104.472498 10.1093/europace/eun180 10.1111/j.1540-8167.2007.00910.x 10.1016/j.hrthm.2010.11.038 10.1093/europace/eux351 10.1161/01.cir.0000019906.35135.a3 10.1016/j.jns.2015.02.027 10.5152/NSN.2018.11013 10.1515/jpem-2019-0276 10.1212/WNL.0b013e31828cf8d0 10.1016/j.nmd.2018.03.006 10.1038/273389a0 10.1111/j.1540-8167.1997.tb01834.x 10.1016/0002-8703(69)90250-6 10.1016/j.hrthm.2010.12.021 10.1161/CIRCRESAHA.107.148064 10.1111/j.1442-200x.2005.02024.x 10.1016/j.hrthm.2006.07.021 10.1016/j.jelectrocard.2008.02.023 10.1056/NEJMra032426 10.1093/europace/eut428 10.1093/europace/eut326 10.1016/j.hrthm.2019.01.034 10.1161/CIRCEP.116.004549
Journal of Interventional Cardiac Electrophysiology : an ... Keegan R, Onetto L et. al.

Oct 20th, 2021 - Andersen-Tawil syndrome type 1 is a rare autosomal dominant disease caused by a KCNJ2 gene mutation and clinically characterized by dysmorphic features, periodic muscular paralysis, and frequent ventricular arrhythmias (VAs). Although polymorphic ...

Failure of radiofrequency catheter ablation and success of flecainide to suppress prema...
https://doi.org/10.1016/j.jelectrocard.2021.07.004
Journal of Electrocardiology; Yilmaz S, Kanat S

Jul 27th, 2021 - This case report presents a 33-year-old woman with premature ventricular contractions (PVCs). Her genetic testing was positive for KCNJ2 missense mutation at chr17:68171832;NM_000891.2. This mutation was compatible with Andersen-Tawil syndrome. We...

Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switche...
https://doi.org/10.1016/j.nmd.2021.04.001
Neuromuscular Disorders : NMD; Gupta A, Iyadurai S et. al.

Jun 4th, 2021 - Andersen-Tawil syndrome is a rare, autosomal dominant, multisystem disorder for which the majority of cases are caused by pathogenic variants in the KCNJ2 gene. The syndrome is characterized by the clinical triad of episodic paralysis, cardiac con...

see more →

Clinicaltrials.gov  2 results

Characteristics of Andersen-Tawil Syndrome
https://clinicaltrials.gov/ct2/show/NCT00521794

Jan 16th, 2013 - ATS is an ion channel disorder that causes episodes of muscle weakness and potentially life-threatening heart arrhythmias for which no treatment has been identified. The majority of ATS cases are caused by a mutation in the KCNJ2 gene; other cases...

Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome
https://clinicaltrials.gov/ct2/show/NCT00839501

Jan 20th, 2012 - ATS is an ion channel disorder that causes episodes of muscle weakness and potentially life-threatening heart arrhythmias. The majority of ATS cases are caused by a mutation in the KCNJ2 gene, which is linked to potassium channels in the heart, br...

see more →

News  1 results

Periodic Paralysis: Shedding Light on a Rare Neurologic Disorder
https://www.medscape.com/viewarticle/903922

Oct 29th, 2018 - Like many rare disorders, periodic paralysis can go undiagnosed and be easily misinterpreted as a wide variety of neurologic or other disorders. But with increased awareness of the unique symptoms of this disorder and how to manage them, patients ...

see more →