Referenced in: none

Automatically associated channels: Cav1.1 , Kir6.2

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

Authors: S Chabrier, N Monnier, J Lunardi

Journal, date & volume: J. Med. Genet., 2008 Oct , 45, 686-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/18835861

Abstract
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.