Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene

J Med Genet. 2008 Oct;45(10):686-8. doi: 10.1136/jmg.2008.059766.


We report a precocious and atypical form of hypokalaemic periodic paralysis, with clinical manifestations at birth and first episodes of paralysis occurring as early as 1 year of age, although onset of this disease usually occurs between 5-35 years. Extensive molecular analysis showed that the disease was caused by a novel de novo p.Arg897Ser mutation in the CACNA1S gene. The mutation mapped to a new region of the protein, the S4 voltage sensing segment of domain III, at odds with previously reported mutations that exclusively affected domains II and IV.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Calcium Channels / genetics*
  • Calcium Channels, L-Type
  • Child, Preschool
  • Chromosome Mapping
  • DNA Mutational Analysis
  • Humans
  • Hypokalemic Periodic Paralysis / genetics*
  • Male
  • Mutation*


  • CACNA1S protein, human
  • Calcium Channels
  • Calcium Channels, L-Type