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About 123 results

ALLMedicine™ Andersen-tawil Syndrome Center

Research & Reviews  47 results

Neurologic complications of genetic channelopathies.
https://doi.org/10.1016/B978-0-12-819814-8.00014-7
Handbook of Clinical Neurology; Franklin WH, Laubham M

Feb 26th, 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...

Bidirectional Ventricular Tachycardia in a Young Female: A Case of Andersen-Tawil Syndr...
https://doi.org/10.1093/milmed/usab076
Military Medicine; Ransom JL, Wong KC et. al.

Feb 19th, 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...

Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophoto...
https://doi.org/10.1002/ajmg.a.62040
American Journal of Medical Genetics. Part A; Dolci C, Sansone VA et. al.

Dec 28th, 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...

Obstetric management of a patient with Andersen-Tawil syndrome: A case report.
https://doi.org/10.1111/jog.14553
The Journal of Obstetrics and Gynaecology Research Refere... Inagaki M, Tatsumi T et. al.

Nov 18th, 2020 - Andersen-Tawil syndrome (ATS) is a rare hereditary long QT syndrome type 7 caused by a missense mutation in the KCNJ2 gene. ATS is characterized by ventricular arrhythmia, periodic limb paralysis and minor external malformations. Although only thr...

Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have ...
https://doi.org/10.1016/j.braindev.2020.10.010
Brain & Development; Hiraide T, Fukumura S et. al.

Nov 17th, 2020 - The periodic paralyses are a group of skeletal muscle channelopathies caused by variants in several ion channel genes. Potassium Inwardly Rectifying Channel Subfamily J Member 5 (KCNJ5) encodes the G-protein-activated inwardly rectifying potassium...

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Clinicaltrials.gov  2 results

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

Jan 15th, 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 19th, 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...

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