X-Nico

unusual facts about Nav1.7|NaVNaV1.7.



Erythromelalgia

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.

There are 10 known mutations in the voltage-gated sodium channel α-subunit NaV1.7 encoding gene, SCN9A.

NAV1

The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities.

Nav1.1

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.

Small fiber peripheral neuropathy

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.


see also