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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
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...
Αποθηκεύτηκε σε:
Κύριοι συγγραφείς: | , , , , , , , , , , , , , , , |
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Μορφή: | Artigo |
Γλώσσα: | Inglês |
Έκδοση: |
Frontiers Media S.A.
2020-08-01
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Σειρά: | Frontiers in Neuroscience |
Θέματα: | |
Διαθέσιμο Online: | https://www.frontiersin.org/article/10.3389/fnins.2020.00821/full |
Ετικέτες: |
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