J Korean Neurol Assoc.
2006 Jun;24(3):265-269.
Two Families of Andersen's Syndrome with Cardiac Arrhythmia, Periodic Paralysis, and KCNJ2 Gene Mutations
- Affiliations
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- 1Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. sunwooin@yumc.yonsei.ac.kr
- 2Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea.
- 3Department of Biological Science, Kongju National University, Gongju, Korea.
- 4Department of Neurology, National Medical Center, Seoul, Korea.
Abstract
- Andersen's syndrome is a rare autosomal dominant disorder characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias. This syndrome is known to be a type of potassium channelopathies with a mutation in the KCNJ2 (Kir2.1) gene. Here, we present two families with genetically confirmed Andersen's syndrome through clinical and electrophysiological findings. They showed all features of the triad, and one of them had a novel mutation c.307G>A (Met307Ile).
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