title: Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
abstract: 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 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.
authors.affiliation: UFR de Neurologie, Faculté des Sciences de la Santé, Cotonou, Benin.
authors.forename: Dismand
authors.initials: D
authors.lastname: Houinato
authors.forename: Anatole
authors.initials: A
authors.lastname: Laleye
authors.forename: Constant
authors.initials: C
authors.lastname: Adjien
authors.forename: Marius
authors.initials: M
authors.lastname: Adjagba
authors.forename: Damien
authors.initials: D
authors.lastname: Sternberg
authors.forename: Pascale
authors.initials: P
authors.lastname: Hilbert
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Vallat
authors.forename: Raphaël Barthélémy
authors.initials: RB
authors.lastname: Darboux
authors.forename: Benoît
authors.initials: B
authors.lastname: Funalot
authors.forename: Dossou Gilbert
authors.initials: DG
authors.lastname: Avode
mesh_terms: D000293:Adolescent; D000328:Adult; D000349:Africa; D001120:Arginine / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006639:Histidine / Q000235:genetics*; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics* / Q000473:pathology; D008297:Male; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation; D020864:Calcium Channels, N-Type
chemical_list: D001120:Arginine; D015220:Calcium Channels; D006639:Histidine; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type