Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.
J Med Genet
; 45(10): 686-8, 2008 Oct.
Article
en En
| MEDLINE
| ID: mdl-18835861
ABSTRACT
We report a precocious and atypical form of hypokalaemic periodic paralysis, with clinical manifestations at birth and first episodes of paralysis occurring as early as 1 year of age, although onset of this disease usually occurs between 5-35 years. Extensive molecular analysis showed that the disease was caused by a novel de novo p.Arg897Ser mutation in the CACNA1S gene. The mutation mapped to a new region of the protein, the S4 voltage sensing segment of domain III, at odds with previously reported mutations that exclusively affected domains II and IV.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Canales de Calcio
/
Parálisis Periódica Hipopotasémica
/
Mutación
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
J Med Genet
Año:
2008
Tipo del documento:
Article
País de afiliación:
Francia