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Article

Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.

Neuromuscular disorders : NMD - 1 May 2007

Houinato Dismand, Laleye Anatole, Adjien Constant, Adjagba Marius, Sternberg Damien, Hilbert Pascale, Vallat Jean-Michel, Darboux Raphaël Barthélémy, Funalot Benoît, Avode Dossou Gilbert

Abstract excerpt

Hypokalaemic periodic paralysis (HypoKPP) is a skeletal muscle channelopathy caused by mutations in calcium (CACNA1S) and sodium (SCN4A) channel subunits. A small number of causative mutations have been found in European and Asian patients, but not in African patients yet. We have identified a la...

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Identifiers

PMID: 17418573
DOI: 10.1016/j.nmd.2007.01.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17418573-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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