| Titre |
Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family |
| Auteurs |
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],
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| Journal: |
Neuromuscular disorders: NMD |
| Catégorie Journal: |
Nationale |
| Impact factor: |
0 |
| Volume Journal: |
17 |
| DOI: |
10.1016/j.nmd.2007.01.020 |
| Resume |
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. |
| Mots clés |
Hypokalaemic, paralysis, CACNA1S R1239H mutation, African |
| Pages |
419 - 422 |
| Fichier |
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