Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review

Mutations in the disheveled, Egl-10 and domain-containing protein 5 (DEPDC5) recently have been identified as a common cause of focal epilepsy syndromes. The association between phenotype and genotype of DEPDC5 mutation has not been adequately characterized. We studied four families with familial fo...

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Detalles Bibliográficos
Autores principales: Zhang, Xuan, Huang, Zhaoyang, Liu, Jianghong, Li, Mingyu, Zhao, Xiaoling, Ye, Jing, Wang, Yuping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8258162/
https://www.ncbi.nlm.nih.gov/pubmed/34239491
http://dx.doi.org/10.3389/fneur.2021.641019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8258162/
https://www.ncbi.nlm.nih.gov/pubmed/34239491
http://dx.doi.org/10.3389/fneur.2021.641019

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