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Dergiler / 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
Sayfa
151–153
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

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 Maddede Bu Makale

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Amaç & Hipotez: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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Temel Bulgular & Veri:Diagnosis can be confirmed by genetic testing where KCNJ2 is the most common causative gene.
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Sonuç & Katkı: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.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

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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Bu Makaleye Atıf Yap

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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  1. Tawil R, Ptacek LJ, Pavlakis SG, et al. Andersen’s syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 1994; 35: 326-330. [CrossRef] Sansone V, Tawil R. Management and treatment of Andersen-Tawil Syndrome (ATS). Neurotherapeutics 2007; 4: 233-237. [CrossRef] Plaster NM, Tawil R, Tristani-Firouzi M, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes ofAndersen’s syndrome. Cell 2001; 105: 511-509. [CrossRef] Fournier E, Arzel M, Sternberg D, et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004; 56: 650-661. [CrossRef] Hosaka Y, Hanawa H, Washizuka T, et al. Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome. J Mol Cell Cardiol 2003; 35: 409-415. [CrossRef] Sansone V, Griggs RC, Meola G, et al. Andersen’s syndrome: a distinct periodic paralysis. Ann Neurol 1997; 42: 305-312. [CrossRef] Cannon SC. An expanding view for the molecular basis of familial periodic paralysis. Neuromuscul Disord 2002; 12: 533-543. [CrossRef] Oz Tuncer G, Teber S, Kutluk MG, Albayrak P, Deda G. Andersen-Tawil Syndrome with early onset myopathy: 2 cases. J Neuromuscul Dis 2017; 4: 93-95. [CrossRef] Adams DS, Uzel SG, Akagi J, et al. Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen–Tawil Syndrome. J Physiol 2016; 594: 3245-3470. [CrossRef] Liu XL, Huang XJ, Luan XH, et al. Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation. J Neurol Sci 2015; 352: 105-106. [CrossRef]