Two Families of Andersen’s Syndrome with Cardiac Arrhythmia, Periodic Paralysis, and KCNJ2 Gene Mutations

J Korean Neurol Assoc > Volume 24(3); 2006 > Article

Journal of the Korean Neurological Association 2006;24(3): 265-269.

심부정맥, 주기성마비 및 KCNJ2유전자 돌연변이를 가진 안데르센 증후군 2가계

서범천, 최병옥a 정기화b 김승민 정연경c 김상범a 선우일남

연세대학교 의과대학 신경과학교실, 이화여자대학교 의과대학 신경과학교실a, 공주대학교 생명과학과b, 국립의료원 신경과c

Two Families of Andersen’s Syndrome with Cardiac Arrhythmia, Periodic Paralysis, and KCNJ2 Gene Mutations

Bum Chun Suh

Department of Neurology, Yonsei University College of Medicine, Seoul; Department of Neurology, Ewha Womans University College of Medicinea, Seoul; Department of Biological Science, Kongju National Universityb, Gongju; Department of Neurology, National Medical Centerc, 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).KeyWords:Andersen‘s syndrome, Periodic paralysis, Exercise test