Cargando…
PCDH19-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review
Mutations in PCDH19 are associated with epilepsy, intellectual disability and behavioral disturbances, mostly related to females. The unique X-linked pattern of inheritance affects females predominantly, while usually is transmitted through asymptomatic males. Recently, new research has demonstrated...
Autores principales: | Yang, Xiao, Chen, Jing, Zheng, BiXia, Liu, Xianyu, Cao, Zixuan, Wang, Xiaoyu |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203462/ https://www.ncbi.nlm.nih.gov/pubmed/32425876 http://dx.doi.org/10.3389/fneur.2020.00311 |
Ejemplares similares
-
Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy
por: Chen, Guilan, et al.
Publicado: (2022) -
PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency
por: Chen, Yi, et al.
Publicado: (2022) -
Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsy
por: Zhou, Wenjuan, et al.
Publicado: (2023) -
Gene and Phenotype Expansion of Unexplained Early Infantile Epileptic Encephalopathy
por: Liu, Xianyu, et al.
Publicado: (2021) -
Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy
por: Gursoy, Semra, et al.
Publicado: (2020)