DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect

To explore the phenotype spectrum of DEPDC5 variants and the possible mechanisms underlying phenotypical variation, we performed targeted next-generation sequencing in 305 patients with focal epilepsies and 91 patients with generalized epilepsies. Protein modeling was performed to predict the effect...

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Detalles Bibliográficos
Autores principales: Liu, Liu, Chen, Zi-Rong, Xu, Hai-Qing, Liu, De-Tian, Mao, Yong, Liu, Han-Kui, Liu, Xiao-Rong, Zhou, Peng, Lin, Si-Mei, Li, Bin, He, Na, Su, Tao, Zhai, Qiong-Xiang, Meng, Heng, Liao, Wei-Ping, Yi, Yong-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432260/
https://www.ncbi.nlm.nih.gov/pubmed/32848577
http://dx.doi.org/10.3389/fnins.2020.00821

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