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

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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Bibliographic Details
Main Authors: Liu Liu, Zi-Rong Chen, Hai-Qing Xu, De-Tian Liu, Yong Mao, Han-Kui Liu, Xiao-Rong Liu, Peng Zhou, Si-Mei Lin, Bin Li, Na He, Tao Su, Qiong-Xiang Zhai, Heng Meng, Wei-Ping Liao, Yong-Hong Yi
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-08-01
Series:Frontiers in Neuroscience
Subjects:
DEPDC5
focal epilepsy
febrile seizures
genotype–phenotype correlation
molecular sub-regional effect
Online Access:https://www.frontiersin.org/article/10.3389/fnins.2020.00821/full

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https://www.frontiersin.org/article/10.3389/fnins.2020.00821/full

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