DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Sei...
DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect
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Author / Creator
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 and Yi, Yong-Hong
Publisher
Lausanne: Frontiers Research Foundation
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English
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Lausanne: Frontiers Research Foundation
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Contents
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 effects of missense mutations. All previously reported e...
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DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect
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TN_cdi_doaj_primary_oai_doaj_org_article_1b5a226905c6458c8167853cff9b7962
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1b5a226905c6458c8167853cff9b7962
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ISSN
1662-453X,1662-4548
E-ISSN
1662-453X
DOI
10.3389/fnins.2020.00821
