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Custom Vector Construction> | … MIR144 trap and MIR451 trap, each cloned into pUC57, were purchased from GenScript (Piscataway, NJ, USA) and trap sequences were subcloned into a lentivector driving miR trap expression from a bidirectional phosphoglycerate kinase (biPGK) promoter (Brown et al, 2006 … | Get A Quote |
Febrile seizures (FS) are the most common seizure syndrome and are potentially a prelude to more severe epilepsy. Although zinc (Zn(2+)) metabolism has previously been implicated in FS, whether or not variation in proteins essential for Zn(2+) homeostasis contributes to susceptibility is unknown. Synaptic Zn(2+) is co-released with glutamate and modulates neuronal excitability. SLC30A3 encodes the zinc transporter 3 (ZNT3), which is primarily responsible for moving Zn(2+) into synaptic vesicles. Here we sequenced SLC30A3 and discovered a rare variant (c.892C > T; p.R298C) enriched in FS populations but absent in population-matched controls. Functional analysis revealed a significant loss-of-function of the ... More