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. 2016 Dec 14;25(2):216–221. doi: 10.1038/ejhg.2016.145

Figure 2.

Figure 2

Truncating SIK1 sequence variations decreased MEF2C protein levels compared with wild type. (a) Representative western blot of MEF2C protein levels in human neurons at 20 weeks gestation. (b) Differential MEF2C protein levels were observed depending on SIK1 genotype. The kinase-dead p.(Lys56Met) mutant, as well as the truncating SIK1 epilepsy-causing mutants p.(Glu247*) and p.(Gln633*), showed significantly reduced MEF2C protein levels normalized to β-actin. The missense SIK1 sequence variation p.(Pro287Thr) showed MEF2C protein levels similar to wild type. *P = 0.02, **P = 0.02, and ***P = 0.02.