Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome

Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations. However, when extracardiac symptoms are atypical or absent, the patient can be diagnosed with Catecholamin...

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Bibliographic Details
Main Authors: Pauline Le Tanno, Mathilde Folacci, Jean Revilloud, Laurence Faivre, Gabriel Laurent, Lucile Pinson, Pascal Amedro, Gilles Millat, Alexandre Janin, Michel Vivaudou, Nathalie Roux-Buisson, Julien Fauré
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-11-01
Series:Frontiers in Genetics
Subjects:
catecholaminergic polymorphic ventricular tachycardia
Andersen-Tawil syndrome
Kir2.1 channel
Pierre Robin sequence
functionnal characterization
KCNJ2 variants
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.773177/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.773177/full

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