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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Applied Clinical Pediatrics
Year:
2017
Type:
Article
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