Molecular characteristics

UNC80 is a gene that produces a protein essential for the proper function of a sodium channel found in neurons. Neurons, the cells in our brain and spinal cord, communicate through electrical signals to allow us to function properly. To produce and transmit electrical signals, neurons use channels that move charged particles (such as sodium and potassium), into and out of the cell.

UNC80 mutations cause the production of an abnormal sodium channel, thus disrupting the proper transduction of signals from one neuron to another, producing the signs and symptoms described in the previous sections.