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

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 focal seizur...

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Detalles Bibliográficos
Autores principales: Tan, Yuxia, Hou, Mei, Ma, Shaochun, Liu, Peipei, Xia, Shungang, Wang, Yu, Chen, Liping, Chen, Zongbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987650/
https://www.ncbi.nlm.nih.gov/pubmed/29866057
http://dx.doi.org/10.1186/s12881-018-0621-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987650/
https://www.ncbi.nlm.nih.gov/pubmed/29866057
http://dx.doi.org/10.1186/s12881-018-0621-x

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