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.
Laboratoire de Biochimie et Génétique Moléculaire, CHU Grenoble, BP 217, 38043 Grenoble cedex 9, France. jlunardi@chu-grenoble.fr
S
S
Chabrier
N
N
Monnier
J
J
Lunardi
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