Peters, C. et al. Temperature-dependent changes in neuronal dynamics in a patient with an SCN1A mutation and hyperthermia induced seizures.
It is well documented that cells with SCN1A mutations exhibit abnormal electrical activity when subjected to increased temperature. This activity can sometimes be described as loss of function, and sometimes it can be described as gain of function. This study characterized a particular mutation (c3818C>T) in depth by studying its effects not only in a human patient, but also in cells from Chinese hamsters. The authors then plugged the detailed temperature-dependent electrical data into a computational model, and were able to predict the effects of the mutation on the neuronal dynamics.
Sci. Rep. 6, 31879; doi: 10.1038/srep31879 (2016). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007485/