At DIV13–15, C522R levels were significantly lower than wild-type, whereas L446F levels again showed a trend towards reduced levels (not significantly different from wild-type and C522R) ( Fig. 2 B and Supplementary Fig. 2B ).
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Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission.
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Munc18 L446F levels showed a clear trend towards a reduction (not significant), albeit less severe than for Munc18 C552R .