Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report

Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report

Abstract Background The link between the protocadherin-19 (PCDH19) gene and epilepsy suggests that an unusual form of X-linked inheritance affects females but is transmitted through asymptomatic males. Individuals with epilepsy associated with mutations in the PCDH19 gene display generalized or foca...

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Bibliographic Details
Main Authors: Yuxia Tan, Mei Hou, Shaochun Ma, Peipei Liu, Shungang Xia, Yu Wang, Liping Chen, Zongbo Chen
Format: Article
Language:English
Published: BioMed Central 2018-06-01
Series:BMC Medical Genetics
Subjects:
PCDH19
Infantile epilepsy
Clinical manifestations
Gene variations
Online Access:http://link.springer.com/article/10.1186/s12881-018-0621-x

Internet

http://link.springer.com/article/10.1186/s12881-018-0621-x

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