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 i [...]
HOUINATO DISMAND [1], PREUX PIERRE-MARIE [1], ADJIEN KODJO CONSTANT [3], ADJAGBA MAHOUNA PHILIPPE DOTOU [4], STERNBERG DAMIEN [5], HILBERT PASCALE [6], VALLAT JEAN-MICHEL [7], DARBOUX RAPHAËL BARTHÉLÉMY [8], FUNALOT BENOÎT [9], AVODE DOSSOU GILBERT [10],