Figure 7.
Distinct biophysical changes yield divergent pathological outcomes. Cartoon depicting the potential impact of the mutations. Each mutation can impact VDI (blue), CDI (green), and/or activation (purple), leading to LQTS. However, only large increases in channel activation appear to contribute to neurodevelopmental deficits. Note the E1496K mutation is labeled in gray as it resides outside the S6 region; nonetheless, it fits within this scheme as a VDI altering mutation.