Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
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.
Houinato
Dismand
D
UFR de Neurologie, Faculté des Sciences de la Santé, Cotonou, Benin.
Laleye
Anatole
A
Adjien
Constant
C
Adjagba
Marius
M
Sternberg
Damien
D
Hilbert
Pascale
P
Vallat
Jean-Michel
JM
Darboux
Raphaël Barthélémy
RB
Funalot
Benoît
B
Avode
Dossou Gilbert
DG
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
D001120:Arginine; D015220:Calcium Channels; D006639:Histidine; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type