Two Families of Andersen's Syndrome with Cardiac Arrhythmia, Periodic Paralysis, and KCNJ2 Gene Mutations.
- Author:
Bum Chun SUH
1
;
Byung Ok CHOI
;
Ki Wha CHUNG
;
Seung Min KIM
;
Yeon Kyung JUNG
;
Sang Beom KIM
;
Il Nam SUNWOO
Author Information
1. Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. sunwooin@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Andersen's syndrome;
Periodic paralysis;
Exercise test
- MeSH:
Arrhythmias, Cardiac*;
Channelopathies;
Exercise Test;
Humans;
Paralysis*;
Potassium
- From:Journal of the Korean Neurological Association
2006;24(3):265-269
- CountryRepublic of Korea
- Language:Korean
-
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).
