J Korean Neurol Assoc. 2006 Jun;24(3):265-269. Korean. Case Report.
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. email@example.com
Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea.
Department of Biological Science, Kongju National University, Gongju, Korea.
Department of Neurology, National Medical Center, Seoul, Korea.
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).