E-ISSN 2636-865X
Case report
A case with classical triad of Andersen Tawil Sydrome and KCNJ2:c,919A>G mutation
1 Department of Neurology, Near East University School of Medicine, Nicosia, Cyprus  
2 Department of Neurology, Near East University School of Medicine, Nicosia; Department of Neurology, Krenia University School of Medicine, Kyrenia, Cyprus  
3 Department of Neurology, Near East University School of Medicine, Nicosia, Cyprus, Department of Neurology, Krenia University School of Medicine, Kyrenia, Cyprus  
4 Department of Cardiology, Near East University School of Medicine, Nicosia, Cyprus  
Neurol Sci Neurophysiol 2018; 35: 151-153
DOI: 10.5152/NSN.2018.11013
Key Words: Andersen-Tawil Syndrome, periodic paralysis, ventricular arrhythmia, dysmorphic features
Abstract

Andersen-Tawil Syndrome (ATS) is a rare channelopathy with distinctive features of periodic paralytic attacks, ventricular arrhythmias with long QT interval and dysmorphic features. The syndrome shows a high degree of phenotypic heterogeneity. Diagnosis can be confirmed by genetic testing where KCNJ2 is the most common causative gene. Here, we report a young patient with classical triad of ATS carrying KCNJ2:c,919A>G mutation, a mutation which was previously reported in only one patient who had no cardiac involvement. To our knowledge, our case is the first reported case with ventricular arrhythmias due to KCNJ2:c,919A>G (pMet307Val) mutation, and reflects the clinical heterogeneity of the disease when compared with previous reports.


You may cite this article as
: Diker S, Gelener P, Mut S, Kemal H. A case with classical triad of Andersen Tawil Sydrome  and KCNJ2:c,919A>G mutation. Neurol Sci Neurophysiol 2018; 35(3): 151-153.

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