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57. Neurophysiology in Andersen–Tawil syndrome with KCNJ2 mutation

✍ Scribed by Norito Kokubun; Momoka Nishibayashi; Tsubasa Sada; Takeshi Miyamoto; Hideo Yamanouchi; Koichi Hirata

Book ID
119217923
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
40 KB
Volume
120
Category
Article
ISSN
1388-2457

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Genotype-phenotype correlations of KCNJ2
Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome
✍ Yoshisumi Haruna; Atsushi Kobori; Takeru Makiyama; Hidetada Yoshida; Masaharu Ak 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 455 KB

Andersen-Tawil syndrome (ATS) is a rare inherited disorder characterized by periodic paralysis, mild dysmorphic features, and QT or QU prolongation with ventricular arrhythmias in electrocardiograms (ECGs). Mutations of KCNJ2, encoding the human inward rectifying potassium channel Kir 2.1, have been