Key result
Arg528His mutations in the CACNA1S gene, including de novo mutations, were identified in three out of four Korean families with hypokalaemic periodic paralysis.
Population
5 Korean patients with hypokalaemic periodic paralysis (hypoPP) from 4 families
Design
Case_series
Authors
Loading...
May support CACNA1S screening in Korean HypoPP families; leaves open broader applicability pending validation.
Observational (n=5)
De novo Arg528His mutations in the CACNA1S gene can cause hypokalaemic periodic paralysis in Korean patients, explaining sporadic cases without family history.
Kim et al. (2001) conducted an observational in Hypokalaemic periodic paralysis (n=5). CACNA1S gene mutation screening was evaluated on Detection of CACNA1S gene mutations. Arg528His mutations in the CACNA1S gene, including de novo mutations, were identified in three out of four Korean families with hypokalaemic periodic paralysis.