Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.
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.
Chabrier
S
S
Laboratoire de Biochimie et Génétique Moléculaire, CHU Grenoble, BP 217, 38043 Grenoble cedex 9, France. jlunardi@chu-grenoble.fr
Monnier
N
N
Lunardi
J
J
D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type; D002675:Child, Preschool; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics*; D008297:Male; D009154:Mutation
C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type