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

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dc.contributor.authorHouinato, Dismand
dc.contributor.authorPreux, Pierre-Marie
dc.contributor.authorADJIEN, KODJO CONSTANT
dc.contributor.authorADJAGBA, MAHOUNA PHILIPPE DOTOU
dc.contributor.authorSternberg, Damien
dc.contributor.authorHilbert, Pascale
dc.contributor.authorVallat, Jean-Michel
dc.contributor.authorDARBOUX, RAPHAËL BARTHÉLÉMY
dc.contributor.authorFunalot, Benoît
dc.contributor.authorAVODE, DOSSOU GILBERT
dc.date.accessioned2026-06-02T16:06:57Z
dc.date.available2026-06-02T16:06:57Z
dc.date.issued2007
dc.description.abstractHypokalaemic 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 large Beninese family in which HypoKPP segregated over five generations and was caused by the CACNA1S R1239H mutation. We report on the clinical and histopathological spectrum of the disorder in this family. A later age at onset (15.8+/-8.8years), and particular triggering factors due to specific African life conditions seem to be characteristic of our observation.
dc.identifier.doi10.1016/j.nmd.2007.01.020
dc.identifier.otherBECDB-2505
dc.identifier.urihttps://dspace.uac.bj/handle/123456789/2541
dc.language.isofr
dc.relation.ispartofNeuromuscular disorders: NMD
dc.subjectHypokalaemic
dc.subjectparalysis
dc.subjectCACNA1S R1239H mutation
dc.subjectAfrican
dc.titleHypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family
dc.typeArticle

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