Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.04.001
Abstract: 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,… read more here.
Keywords: andersen tawil; marked reduction; paralytic attacks; tawil syndrome ... See more keywords
Bidirectional Ventricular Tachycardia in a Young Female: A Case of Andersen-Tawil Syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Military medicine"
DOI: 10.1093/milmed/usab076
Abstract: 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, specifically, Andersen-Tawil syndrome (ATS). We present a case… read more here.
Keywords: bidirectional ventricular; young female; andersen tawil; ventricular tachycardia ... See more keywords
Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Neurology"
DOI: 10.1111/ene.15369
Abstract: Andersen–Tawil syndrome (ATS) is a skeletal muscle channelopathy caused by KCNJ2 mutations, characterized by a clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphism. The muscle phenotype, particularly the atypical forms with prominent permanent weakness… read more here.
Keywords: phenotypical variability; andersen tawil; variability atypical; presentations french ... See more keywords
Abstract 14836: Dual Dysfunction of Kir2.1 at the Sarcolemma and the Sarcoplasmic Reticulum Underlies Arrhythmogenesis in a Mouse Model of the Andersen-Tawil Syndrome Type 1
Sign Up to like & getrecommendations! Published in 2020 at "Circulation"
DOI: 10.1161/circ.142.suppl_3.14836
Abstract: Introduction: Andersen-Tawil syndrome type 1 (ATS1) is associated with fatal cardiac arrhythmias. However, the underlying mechanisms are poorly understood. Hypothesis: Cardiac-specific expression of trafficking deficient Kir2.1 channels in mice in-vivo recapitulates the cardiac electrical phenotype… read more here.
Keywords: syndrome type; 314 315; kir2 314; mouse model ... See more keywords