STXBP1 and epilepsy: In addition, favourable responses were seen among children with epilepsy due to variants in synapse-related genes (5/7 = 71%) including STXBP1, STX1B and cell growth, division and proliferation-related genes (19/32 = 59%) including SMC1A and mTOR pathway genes DEPDC5, BRAF, TSC1 and TSC2. In contrast, children carrying variants in genes related to cell structural integrity (DYNC1H1), extracellular matrix (COL4A1), protein biosynthesis and degradation-related (UFSP2, MAGEL2, PIGT) were non-responders (P < 0.05).