Progress of protocadherin 19(PCDH19)gene related epilepsy
10.3760/cma.j.issn.2095-428X.2017.24.017
- VernacularTitle:原钙黏蛋白19(PCDH19)基因相关癫痫研究进展
- Author:
Aijie LIU
1
;
Yuehua ZHANG
Author Information
1. 100034,北京大学第一医院儿科
- Keywords:
Protocadherin 19 gene;
Mutation;
Treatment
- From:
Chinese Journal of Applied Clinical Pediatrics
2017;32(24):1908-1911
- CountryChina
- Language:Chinese
-
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.
