During this session, we hear from Dr. Hammer about how inheritance and mosaicism happen and what we are learning about cases of inherited SCN8A.
In this update, we discuss some of the genetics behind SCN8A including:
– A genetics 101
– De novo versus inherited mutations
– What the c. and p. mean on genetic reports
– Different types of genetic mutations (missense, splice, nonsense, frameshift, etc.)
– Gain-of-function and loss-of-function
And much more!