In both cases, these changes in excitability are typically due to mutation of the sodium channel •
Primary erythromelalgia is caused by mutation of the voltage-gated sodium channel α-subunit gene SCN9A.
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There are 10 known mutations in the voltage-gated sodium channel α-subunit NaV1.7 encoding gene, SCN9A.
The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities.
Doctors on the Children's Hospital in Westmead, Australia have told journalists that they would test 50% more infants for the gene, if they could conduct the test on site.
A recent study revealed dysfunction of a particular sodium channel (Nav1.7) in a significant portion of the patient population with an idiopathic small fiber neuropathy.
Nav1.7 |