Figure 5: Immunofluorescence microscopy for KCC2 mutants.
From: Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
L311H, L426P and G551D substitutions impair cell-surface expression of KCC2. HEK293 cells were co-transfected with KCC2-FLAG and HsRed-NLS and immunostained using anti-FLAG and AlexaFluor 488 antibodies. KCC2 WT is detected at the cell surface of intact cells (a) whereas KCC2-L311H, -L426P and -G551D display very little cell surface expression (b–d) Expression of KCC2-WT,-L311H,-L426P and -G551D is detected in permeabilised cells (e–h) Scale bar is 20 μm.
