ALLMedicine™ Andersen-tawil Syndrome Center
Research & Reviews 47 results
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...
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...
Handbook of Clinical Neurology; Franklin WH, Laubham M
Feb 27th, 2021 - This chapter describes what a channelopathy is and how mutations in the genes result in different types of clinical abnormalities. It provides a description of common types of cardiac channelopathies with examples of how there are some areas of ov...
Military Medicine; Ransom JL, Wong KC et. al.
Feb 20th, 2021 - Bidirectional ventricular tachycardia (VT) is a rare ventricular dysrhythmia with a limited differential diagnosis that includes digitalis toxicity, catecholaminergic polymorphic VT, aconite poisoning, and genetic channelopathy syndromes, specific...
American Journal of Medical Genetics. Part A; Dolci C, Sansone VA et. al.
Dec 29th, 2020 - Andersen-Tawil syndrome (ATS) is a rare potassium channelopathy causing periodic paralysis, cardiac arrhythmias, and dysmorphic features. A detailed analysis of the face could facilitate diagnosis of ATS, as approximately 30% of patients do not sh...