Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsy

OBJECTIVE: Albeit the gene of PCDH19-FE was ascertained, the correlation of gene mutation, PCDH19 protein structure, and phenotype heterogeneity remained obscure. This study aimed to report a five-generation pedigree of seven female patients of PCDH19-FE and tried to explore whether two variants wer...

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Detalles Bibliográficos
Autores principales: Zhou, Wenjuan, Ouyang, Yuzhen, Ji, Yuqiao, Xi, Qiong, Zhao, Lingling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10034091/
https://www.ncbi.nlm.nih.gov/pubmed/36970538
http://dx.doi.org/10.3389/fneur.2023.1107904

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10034091/
https://www.ncbi.nlm.nih.gov/pubmed/36970538
http://dx.doi.org/10.3389/fneur.2023.1107904

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