A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci

Familial focal epilepsy with variable foci is an autosomal dominant disorder characterized by partial epilepsy with variable foci. In this study, we report a six-generation with segregation of the mutation present in four generations Chinese family presenting with focal epilepsy with variable foci....

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Detalles Bibliográficos
Autores principales: Li, Youzhi, Zhao, Xu, Wang, Shanshan, Xu, Ke, Zhao, Xin, Huang, Shanshan, Zhu, Suiqiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633433/
https://www.ncbi.nlm.nih.gov/pubmed/34868250
http://dx.doi.org/10.3389/fgene.2021.766354

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633433/
https://www.ncbi.nlm.nih.gov/pubmed/34868250
http://dx.doi.org/10.3389/fgene.2021.766354

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