[HTML][HTML] Size matters: Erythromelalgia mutation S241T in Nav1. 7 alters channel gating
A Lampert, SD Dib-Hajj, L Tyrrell… - Journal of biological …, 2006 - ASBMB
The Nav1. 7 sodium channel is preferentially expressed in most nociceptive dorsal root
ganglion neurons and in sympathetic neurons. Inherited erythromelalgia (IEM, also known
as erythermalgia), an autosomal dominant neuropathy characterized by burning pain in the
extremities in response to mild warmth, has been linked to mutations in Nav1. 7. Recently, a
substitution of Ser-241 by threonine (S241T) in the domain I S4-S5 linker of Nav1. 7 was
identified in a family with IEM. To investigate the possible causative role of this mutation in …
ganglion neurons and in sympathetic neurons. Inherited erythromelalgia (IEM, also known
as erythermalgia), an autosomal dominant neuropathy characterized by burning pain in the
extremities in response to mild warmth, has been linked to mutations in Nav1. 7. Recently, a
substitution of Ser-241 by threonine (S241T) in the domain I S4-S5 linker of Nav1. 7 was
identified in a family with IEM. To investigate the possible causative role of this mutation in …