Andersen Tawil Syndrome

Common Name(s)

Andersen Tawil Syndrome, Andersen-Tawil Syndrome, Andersen syndrome

Andersen-Tawil syndrome is a type of long QT syndrome and is also considered a rare form of periodic paralysis. It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities. Physical abnormalities associated with this condition typically affect the head, face, and limbs. There are two different types of Andersen-Tawil syndrome. Type 1 is caused by changes in the KCNJ2 gene, while the cause of type 2 is not yet known. Andersen-Tawil syndrome is inherited in an autosomal dominant pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Andersen Tawil Syndrome" for support, advocacy or research.

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Periodic Paralysis International

Our Mission statement is to disseminate timely, medically accurate and useful information, to provide supportive services, and to encourage research which enhances the quality of life for people with the skeletal muscle ion channelopathies classified as the periodic paralyses.

Last Updated: 12 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Andersen Tawil Syndrome" for support, advocacy or research.

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Periodic Paralysis International

Our Mission statement is to disseminate timely, medically accurate and useful information, to provide supportive services, and to encourage research which enhances the quality of life for people with the skeletal muscle ion channelopathies classified as the periodic paralyses.

http://hkpp.org

Last Updated: 12 Feb 2013

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General Resources

SADS Foundation Website

Information on living with SADS, diagnosis, treatment, prevention, and advocacy/education.

Updated 29 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Andersen Tawil Syndrome" returned 12 free, full-text research articles on human participants. First 3 results:

Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome.
 

Author(s): Scott B Marrus, Phillip S Cuculich, Wei Wang, Jeanne M Nerbonne

Journal: Channels (Austin). ;5(6):500-9.

 

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 Kir2.1. Here, we report the ...

Last Updated: 10 Feb 2012

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Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome.
 

Author(s): Guiscard Seebohm, Nathalie Strutz-Seebohm, Oana N Ursu, Regina Preisig-Müller, Marylou Zuzarte, Elaine V Hill, Marie-Cécile Kienitz, Said Bendahhou, Michael Fauler, Daniel Tapken, Niels Decher, Anthony Collins, Karin Jurkat-Rott, Klaus Steinmeyer, Frank Lehmann-Horn, Jürgen Daut, Jeremy M Tavaré, Lutz Pott, Wilhelm Bloch, Florian Lang

Journal: FASEB J.. 2012 Feb;26(2):513-22.

 

Inward rectifier potassium channels of the Kir2 subfamily are important determinants of the electrical activity of brain and muscle cells. Genetic mutations in Kir2.1 associate with Andersen-Tawil syndrome (ATS), a familial disorder leading to stress-triggered periodic paralysis and ...

Last Updated: 1 Feb 2012

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A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome.
 

Author(s): Takahiro Doi, Takeru Makiyama, Takeshi Morimoto, Yoshisumi Haruna, Keiko Tsuji, Seiko Ohno, Masaharu Akao, Yoshiaki Takahashi, Takeshi Kimura, Minoru Horie

Journal: Circ Cardiovasc Genet. 2011 Jun;4(3):253-60.

 

Mutations in KCNJ2, a gene encoding the inward rectifier K(+) channel Kir2.1, are associated with Andersen-Tawil syndrome (ATS), which is characterized by (1) ventricular tachyarrhythmias associated with QT (QU)-interval prolongation, (2) periodic paralysis, and (3) dysmorphic features.

Last Updated: 15 Jun 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Andersen Tawil Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.