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Journals / Neurological sciences and neurophysiology (Online) / 2018 / Cilt: 35 - Sayı: 3

A case with classical triad of Andersen Tawil Sydrome and KCNJ2:c,919A>G mutation

Sevda DİKER
Pınar Gelener
Senem MUT
Hatice KEMAL
Pages
151–153
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Andersen-Tawil Syndrome (ATS) is a rare channelopathy with distinctive features of periodic paralytic attacks, ventricular arrhythmias with long QT interval and dysmorphic features.
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Key Findings & Data:Diagnosis can be confirmed by genetic testing where KCNJ2 is the most common causative gene.
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Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

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.

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Cite This Article

DİKER, S., Gelener, P., MUT, S., KEMAL, H. (2018). A case with classical triad of Andersen Tawil Sydrome and KCNJ2:c,919A>G mutation. Neurological sciences and neurophysiology (Online), Cilt: 35 - Sayı: 3, 151–153. https://ajindex.com/articles/290604

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References (1)

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