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Article

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

Journal of medical genetics - 1 Oct 2008

Chabrier S, Monnier N, Lunardi J

Abstract excerpt

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...

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Identifiers

PMID: 18835861
DOI: 10.1136/jmg.2008.059766

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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