Download ChannelopQues

Channelopathies Discussion Questions
1. What are channelopathies? What channels are involved? What properties of channels
are altered by channel mutations. How would you know a patient’s symptoms were
caused by a channelopathy?
2. How can mutations in one gene cause several different phenotypic syndromes in
patients? Give examples of the genes and syndromes in your answer.
3. How can mutations in different genes in patients cause similar symptoms? Give
examples of the genes and syndromes in your answer.
4. What is the difference between mutations that cause a gain of function and a loss of
function? Give specific examples of a mutation and its effect for each. How can a gain of
function mutation result in both an increase in excitability and inexcitability in neurons?
5. What CNS disorders are known currently to be caused by channelopathies? Why do
some channelopathies cause specific clinical symptoms in brain function, but not general
symptoms for the rest of the body?
6. Why might a channelopathy cause clinical symptoms in children, which disappear as
the child becomes an adult? What is the value to the patient in getting evidence that their
symptoms are due to a channelopathy?