Gain-of-Function Mutation Met136Val in SCN8A is not a Common Cause of
Trigeminal Neuralgia
Abstract
Classical trigeminal neuralgia (cTN) is a neuropathic pain disorder
marked by evoked and spontaneous attacks in the distribution of the
trigeminal nerve, and the disorder is further associated with periods of
complete remission and subsequent recurrence in most patients. A
mutation in SCN8A, a sodium channel gene that codes for the Nav1.6
protein, was reported in a 64-year-old white female that presented with
classical trigeminal neuralgia. The Met136Val change produced a
significant increase in peak transient and resurgent currents of Nav1.6,
reduced the threshold for action potential in trigeminal ganglia
neurons, and enhanced the neuronal evoked response and the fraction of
neurons that fire at a higher rate than those expressing wild type
channels. We sequenced 123 individuals with a diagnosis of trigeminal
neuralgia and did not detect the mutation, suggesting its frequency is
lower than 1% in the population.