Progress of protocadherin 19(PCDH19)gene related epilepsy / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 1908-1911, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-665610
ABSTRACT
PCDH19 gene related epilepsy is an unusual X - linked disease that females and mosaic males are affected,while hemizygous males are not. Recently,the number of reports about PCDH19 gene related epilepsy is in-creasing,and PCDH19 gene has become one of the most important epilepsy genes. Now,the structure and function of PCDH19 gene and protein,the inheritance and pathogenesis,clinical features,treatment and genotype/ phenotype asso-ciated with PCDH19 gene related epilepsy,were reviewed.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Applied Clinical Pediatrics
Ano de publicação:
2017
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS