Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy

The clinical features of the PCDH19 gene mutation include febrile epilepsy ranging from mild to severe, with or without intellectual disability, cognitive impairment, and psych-behavioral disorders, but there has been little research on males with the mosaic mutation of PCDH19. This study reported a...

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Detalles Bibliográficos
Autores principales: Chen, Guilan, Zhou, Hang, Lu, Yan, Wang, You, Li, Yingsi, Xue, Jiaxin, Cheng, Ken, Huang, Ruibin, Han, Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556843/
https://www.ncbi.nlm.nih.gov/pubmed/36247776
http://dx.doi.org/10.3389/fneur.2022.992781

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556843/
https://www.ncbi.nlm.nih.gov/pubmed/36247776
http://dx.doi.org/10.3389/fneur.2022.992781

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