Two Families of Andersen's Syndrome with Cardiac Arrhythmia, Periodic Paralysis, and KCNJ2 Gene Mutations
Journal of the Korean Neurological Association
; : 265-269, 2006.
Article
in Ko
| WPRIM
| ID: wpr-9069
Responsible library:
WPRO
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).
Key words
Full text:
1
Index:
WPRIM
Main subject:
Paralysis
/
Arrhythmias, Cardiac
/
Potassium
/
Exercise Test
/
Channelopathies
Limits:
Humans
Language:
Ko
Journal:
Journal of the Korean Neurological Association
Year:
2006
Type:
Article