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Journal articles
Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.
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.
Cited literature [10 references]
https://www.hal.inserm.fr/inserm-00516347
Contributor : Nathalie Roux-Buisson <>
Submitted on : Thursday, September 9, 2010 - 12:21:03 PM
Last modification on : Thursday, March 5, 2020 - 3:07:59 PM
Long-term archiving on: : Friday, December 2, 2016 - 8:02:42 AM
Contributor : Nathalie Roux-Buisson <>
Submitted on : Thursday, September 9, 2010 - 12:21:03 PM
Last modification on : Thursday, March 5, 2020 - 3:07:59 PM
Long-term archiving on: : Friday, December 2, 2016 - 8:02:42 AM